Testing Criteria

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Testing criteria Disorders Genes Date
Deafness, Autosomal Recessive 1A
  • Deafness, Autosomal Recessive 1A
    • Gap Junction Protein, Beta 2, 26kda
  • gap junction protein, beta 2
    • connexin 26
    • gap junction protein, 26-kd
    • gap junction protein, beta 2, 26kDa
    • gap junction protein, beta 2, 26kda (connexin 26)
    • gap junction protein, beta-2
  • gap junction protein, beta 6
    • connexin 30
    • gap junction protein, beta 6 (connexin 30)
    • gap junction protein, beta 6, 30kDa
    • gap junction protein, beta-6
2012
Deafness, X-linked 2
  • Deafness, X-Linked 2
    • Deafness, Conductive, With Stapes Fixation
    • Deafness, Mixed, With Perilymphatic Gusher
    • Nance Deafness
    • Perilymphatic Gusher-Deafness Syndrome
    • Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear
  • POU class 3 homeobox 4
    • POU domain class 3, transcription factor 4
2012
Dementia Disorders 16 Gene Panel
  • Alzheimer Disease 3
    • Alzheimer Disease 3, Early-Onset
    • Alzheimer Disease, Familial, 3
  • Alzheimer Disease 4
    • Alzheimer Disease, Familial, 4
  • Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia
    • Frontotemporal Dementia With Tdp43 Inclusions, Tardbp-Related, Included
    • Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Tardbp-Related, Included
    • Ftld-Tdp, Tardbp-Related, Included
  • Amyotrophic Lateral Sclerosis 14, With Or Without Frontotemporal Dementia
  • Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia
  • Cerebral Amyloid Angiopathy, ITM2B-Related, 1
    • Cerebral Amyloid Angiopathy, British Type
    • Dementia, Familial British
    • Presenile Dementia With Spastic Ataxia
  • Cerebral Amyloid Angiopathy, ITM2B-Related, 2
    • Cerebellar Ataxia, Cataract, Deafness, And Dementia Or Psychosis
    • Dementia, Familial Danish
    • Familial Danish Dementia
    • Heredopathia Ophthalmootoencephalica
  • Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy
    • Casil
    • Dementia, Hereditary Multi-Infarct Type
  • Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
    • Cerebrovascular Disease With Thin Skin, Alopecia, And Disc Disease
    • MAEDA Syndrome
    • Subcortical Vascular Encephalopathy, Progressive
  • Creutzfeldt-Jakob Disease
    • Creutzfeldt-Jakob Disease, Familial
  • Fatal Familial Insomnia
    • Insomnia, Fatal Familial
  • Frontotemporal Dementia
    • Dementia, Frontotemporal, With Parkinsonism
    • Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex
    • Frontotemporal Dementia With Parkinsonism
    • Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
    • Frontotemporal Lobar Degeneration
    • Frontotemporal Lobe Dementia
    • Ftdp17
    • Multiple System Tauopathy With Presenile Dementia
    • Pick Complex, Included
    • Wilhelmsen-Lynch Disease
  • Frontotemporal Dementia, Chromosome 3-Linked
    • Dementia, Familial Nonspecific
  • Frontotemporal Lobar Degeneration With TDP43 Inclusions, GRN-Related
    • Dementia, Hereditary Dysphasic Disinhibition
    • Frontotemporal Dementia With TDP43 Inclusions, Grn-Related
    • Frontotemporal Dementia, Ubiquitin-Positive
    • Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions
    • FTLD-TDP, GRN-Related
  • Huntington Disease-Like 1
    • Huntington-Like Neurodegenerative Disorder 1
    • Huntington-Like Neurodegenerative Disorder, Autosomal Dominant
    • Prion Disease, Early-Onset, With Prominent Psychiatric Features
  • Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
    • Lower Motor Neuron Degeneration With Paget-Like Bone Disease
    • Multisystem Proteinopathy 1
    • Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone
    • Pagetoid Amyotrophic Lateral Sclerosis
    • Pagetoid Neuroskeletal Syndrome
  • Kuru, Susceptibility To
  • Leukoencephalopathy, Diffuse Hereditary, With Spheroids
    • Dementia, Familial, Neumann Type
    • Gliosis, Familial Progressive Subcortical
    • Leukoencephalopathy With Neuroaxonal Spheroids, Autosomal Dominant
    • Subcortical Gliosis Of Neumann
  • Parkinson-Dementia Syndrome
    • Steele-Richardson-Olszewski Syndrome, Atypical, Included
    • Supranuclear Palsy, Progressive, 1, Atypical, Included
  • Pick Disease Of Brain
    • Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions
    • Lobar Atrophy Of Brain
  • Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy
    • Brain-Bone-Fat Disease
    • Dementia, Prefrontal, With Bone Cysts
    • Dementia, Progressive, With Lipomembranous Polycystic
    • Nasu-Hakola Disease
    • Osteodysplasia
    • Presenile Dementia With Bone Cysts
  • Spongiform Encephalopathy With Neuropsychiatric Features
  • Supranuclear Palsy, Progressive, 1
    • Steele-Richardson-Olszewski Syndrome
  • amyloid beta precursor protein
    • alzheimer disease 1, included
    • amyloid beta (A4) precursor protein
    • amyloid of aging and alzheimer disease
    • cerebral vascular amyloid peptide
    • protease nexin II, included
  • charged multivesicular body protein 2B
    • charged multivesicular body protein 2B
    • chromatin modifying protein 2B
    • chromatin-modifying protein 2B
    • vacuolar protein sorting 2, yeast, homolog of, B
  • colony stimulating factor 1 receptor
    • CD115 antigen
    • McDonough feline sarcoma viral (v-fms) oncogene homolog
    • oncogene fms
    • v-fms mcdonough feline sarcoma viral oncogene homolog, formerly
  • FUS RNA binding protein
    • fused in sarcoma
    • heterogeneous nuclear ribonucleoprotein p2
    • translocated in liposarcoma
  • granulin precursor
  • HTRA serine peptidase 1
    • Htra, e. coli, homolog of
    • protease, serine, 11
    • protease, serine, 11 (IGF binding)
  • integral membrane protein 2B
  • microtubule associated protein TAU
    • microtubule-associated protein TAU
    • tauopathy and respiratory failure, included
  • notch 3
    • notch homolog 3 (drosophila)
    • notch, drosophila, homolog of, 3
  • presenilin 1
    • presenilin 1 (alzheimer disease 3)
    • ps1
    • s182
  • presenilin 2
    • presenilin 2
    • presenilin 2 (alzheimer disease 4)
  • prion protein
    • prion protein (p27-30)
    • prion-related protein
  • TAR DNA binding protein
  • triggering receptor expressed on myeloid cells 2
    • triggering receptor expressed on myeloid cells 2a
  • TYRO protein tyrosine kinase binding protein
    • DNAX-activation protein 12
    • killer activating receptor associated protein
  • valosin containing protein
    • CDC48, yeast, homolog of
    • valosin-containing protein
2013
Dementia Disorders 27 Gene Panel
  • Alzheimer Disease
    • Alzheimer Disease, Familial
    • Alzheimer Disease, Familial, 1, Included
    • Presenile And Senile Dementia
  • Alzheimer Disease 3
    • Alzheimer Disease 3, Early-Onset
    • Alzheimer Disease, Familial, 3
  • Alzheimer Disease 4
    • Alzheimer Disease, Familial, 4
  • Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia
    • Frontotemporal Dementia With Tdp43 Inclusions, Tardbp-Related, Included
    • Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Tardbp-Related, Included
    • Ftld-Tdp, Tardbp-Related, Included
  • Amyotrophic Lateral Sclerosis 14, With Or Without Frontotemporal Dementia
  • Amyotrophic Lateral Sclerosis 15, With Or Without Frontotemporal Dementia
  • Amyotrophic Lateral Sclerosis 21
    • Myopathy, Distal, 2
    • Vpcal Cord And Pharyngeal Dysfunction With Distal Myopathy
  • Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemoral Dementia
    • 0
  • Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia
  • Cerebral Amyloid Angiopathy, APP-Related
    • Amyloidosis, Cerebroarterial, App-Related
    • Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant
    • Cerebral Amyloid Angiopathy, App-Related, Arctic Variant
    • Cerebral Amyloid Angiopathy, App-Related, Dutch Variant
    • Cerebral Amyloid Angiopathy, App-Related, Flemish Variant
    • Cerebral Amyloid Angiopathy, App-Related, Iowa Variant
    • Cerebral Amyloid Angiopathy, App-Related, Italian Variant
  • Cerebral Amyloid Angiopathy, ITM2B-Related, 1
    • Cerebral Amyloid Angiopathy, British Type
    • Dementia, Familial British
    • Presenile Dementia With Spastic Ataxia
  • Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy
    • Casil
    • Dementia, Hereditary Multi-Infarct Type
  • Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
    • Cerebrovascular Disease With Thin Skin, Alopecia, And Disc Disease
    • MAEDA Syndrome
    • Subcortical Vascular Encephalopathy, Progressive
  • Cerebrotendinous Xanthomatosis
    • Cerebral Cholesterinosis
  • Frontotemporal Dementia
    • Dementia, Frontotemporal, With Parkinsonism
    • Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex
    • Frontotemporal Dementia With Parkinsonism
    • Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
    • Frontotemporal Lobar Degeneration
    • Frontotemporal Lobe Dementia
    • Ftdp17
    • Multiple System Tauopathy With Presenile Dementia
    • Pick Complex, Included
    • Wilhelmsen-Lynch Disease
  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
    • 0
  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
    • 0
  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
    • 0
  • Frontotemporal Dementia, Chromosome 3-Linked
    • Dementia, Familial Nonspecific
  • Frontotemporal Lobar Degeneration With TDP43 Inclusions, GRN-Related
    • Dementia, Hereditary Dysphasic Disinhibition
    • Frontotemporal Dementia With TDP43 Inclusions, Grn-Related
    • Frontotemporal Dementia, Ubiquitin-Positive
    • Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions
    • FTLD-TDP, GRN-Related
  • Gerstmann-Straussler Disease
    • Amyloidosis, Cerebral, With Spongiform Encephalopathy
    • Cerebellar Ataxia, Progressive Dementia, And Amyloid Deposits In CNS
    • Encephalopathy, Subacute Spongiform, Gerstmann-Straussler Type
    • Gerstmann-Straussler-Scheinker Disease
    • Prion Dementia
  • Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
    • Lower Motor Neuron Degeneration With Paget-Like Bone Disease
    • Multisystem Proteinopathy 1
    • Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone
    • Pagetoid Amyotrophic Lateral Sclerosis
    • Pagetoid Neuroskeletal Syndrome
  • Leukoencephalopathy, Diffuse Hereditary, With Spheroids
    • Dementia, Familial, Neumann Type
    • Gliosis, Familial Progressive Subcortical
    • Leukoencephalopathy With Neuroaxonal Spheroids, Autosomal Dominant
    • Subcortical Gliosis Of Neumann
  • Mast Syndrome
    • Spastic Paraplegia 21, Autosomal Recessive
  • Neuropathy, Hereditary Sensory, Type IE
    • Neuropathy, Hereditary Sensory, with Hearing Loss and Dementia
  • Perry Syndrome
    • Parkinsonism With Alveolar Hypoventilation And Mental Depression
  • Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy
    • Brain-Bone-Fat Disease
    • Dementia, Prefrontal, With Bone Cysts
    • Dementia, Progressive, With Lipomembranous Polycystic
    • Nasu-Hakola Disease
    • Osteodysplasia
    • Presenile Dementia With Bone Cysts
  • amyloid beta precursor protein
    • alzheimer disease 1, included
    • amyloid beta (A4) precursor protein
    • amyloid of aging and alzheimer disease
    • cerebral vascular amyloid peptide
    • protease nexin II, included
  • charged multivesicular body protein 2B
    • charged multivesicular body protein 2B
    • chromatin modifying protein 2B
    • chromatin-modifying protein 2B
    • vacuolar protein sorting 2, yeast, homolog of, B
  • coiled-coil-helix-coiled-coil-helix domain containing 10
    • C22orf16
    • chromosome 22 open reading frame 16
  • colony stimulating factor 1 receptor
    • CD115 antigen
    • McDonough feline sarcoma viral (v-fms) oncogene homolog
    • oncogene fms
    • v-fms mcdonough feline sarcoma viral oncogene homolog, formerly
  • cytochrome P450, family 27, subfamily A, member 1
    • cytochrome P450, family 27, subfamily A, polypeptide 1
    • cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1
    • cytochrome P450, subfamily XXVIIA, polypeptide 1
    • sterol 27-hydroxylase
  • DNA methyltransferase 1
    • CXXC finger protein 9
    • DNA (cytosine-5-)-methyltransferase 1
    • DNA cytosine-5-methyltransferase
    • DNA methyltransferase
  • dynactin subunit 1
    • dynactin 1
    • dynactin 1 (p150, Glued (Drosophila) homolog)
    • p150(glued), drosophila, homolog of
  • FUS RNA binding protein
    • fused in sarcoma
    • heterogeneous nuclear ribonucleoprotein p2
    • translocated in liposarcoma
  • granulin precursor
  • heterogeneous nuclear ribonucleoprotein A2/B1
    • 0
  • HTRA serine peptidase 1
    • Htra, e. coli, homolog of
    • protease, serine, 11
    • protease, serine, 11 (IGF binding)
  • integral membrane protein 2B
  • matrin 3
    • KIAA0723
    • MGC9105
    • myopathy, distal 2
  • microtubule associated protein TAU
    • microtubule-associated protein TAU
    • tauopathy and respiratory failure, included
  • notch 3
    • notch homolog 3 (drosophila)
    • notch, drosophila, homolog of, 3
  • presenilin 1
    • presenilin 1 (alzheimer disease 3)
    • ps1
    • s182
  • presenilin 2
    • presenilin 2
    • presenilin 2 (alzheimer disease 4)
  • prion protein
    • prion protein (p27-30)
    • prion-related protein
  • sequestosome 1
    • OSIL
    • oxidative stress induced like
    • Paget disease of bone 3
  • SPG21, maspardin
    • acidic cluster protein, 33-KD
    • maspardin
    • spastic paraplegia 21 (autosomal recessive, Mast syndrome)
    • SPG21 gene
  • TANK binding kinase 1
    • TANK-binding kinase 1
  • TAR DNA binding protein
  • triggering receptor expressed on myeloid cells 2
    • triggering receptor expressed on myeloid cells 2a
  • tubulin alpha 4A
    • TUBA1
    • tubulin, alpha 1
    • tubulin, alpha 1 (testis specific)
  • TYRO protein tyrosine kinase binding protein
    • DNAX-activation protein 12
    • killer activating receptor associated protein
  • ubiquilin 2
  • valosin containing protein
    • CDC48, yeast, homolog of
    • valosin-containing protein
2016
Dent Diseases 2 Gene Panel
  • Dent Disease 1
    • Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones
    • Nephrolithiasis 2
    • Nephrolithiasis, X-Linked Recessive, Type 2
  • Dent Disease 2
  • chloride voltage-gated channel 5
    • chloride channel 5
    • chloride channel, voltage-gated, k2
    • chloride channel, voltage-sensitive 5
    • clc5
    • nephrolithiasis 1 (x-linked)
    • nephrolithiasis 2, x-linked
  • OCRL, inositol polyphosphate-5-phosphatase
    • Lowe oculocerebrorenal syndrome
    • Lowe syndrome
    • ocrl gene
    • oculocerebrorenal syndrome of Lowe
    • phosphatidylinositol 4,5-bisphosphate 5-phosphatase, deficiency of
2016
Developmental Disorders 1308 Gene Exome Panel
  • 17-Beta Hydroxysteroid Dehydrogenase III Deficiency
    • 17-Ketosteroid Reductase Deficiency Of Testis
    • 17-KSR Deficiency
    • Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency
    • Pseudohermaphroditism, Male, With Gynecomastia
  • 2-Aminoadipic 2-Oxoadipic Aciduria
  • 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
    • HL Deficiency
    • HMG-CoA Lyase Deficiency
    • HMGCL Deficiency
    • Hydroxymethylglutaric Aciduria
  • 3-Hydroxy-3-Methylglutaryl-CoA Synthase-2 Deficiency
    • HMGCS2 Deficiency
    • Mitochondrial HMG-CoA Synthase Deficiency
  • 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
    • HADH Deficiency
    • SCHAD Deficiency, Formerly
  • 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency
    • Beta-Hydroxyisobutyryl Coa Deacylase Deficiency
    • Hibch Deficiency
    • Methacrylic Acid Toxicity
    • Methacrylic Aciduria
    • Valine Metabolic Defect
  • 3-Methylcrotonyl-CoA Carboxylase 1 Deficiency
    • 3-Methylcrotonylglycinuria I
    • MCC1 Deficiency
    • MCCD Type 1
    • Methylcrotonylglycinuria Type I
  • 3-Methylcrotonyl-CoA Carboxylase 2 Deficiency
    • 3-Methylcrotonylglycinuria II
    • MCC2 Deficiency
    • Methylcrotonylglycinuria, Type II
  • 3-Methylglutaconic Aciduria, Type I
    • 3-Methylglutaconyl-Coa Hydratase Deficiency
    • 3-Mg-Coa-Hydratase Deficiency
    • Mga, Type I
  • 3MC Syndrome 1
    • Oculopalatoskeletal Syndrome|Craniosynostosis With Lid Anomalies|Michels Syndrome, Formerly
  • 3MC Syndrome 2
    • Ptosis Of Eyelids With Diastasis Recti And Hip Dysplasia|Oculo-Skeletal-Abdominal Syndrome|Osa Syndrome|Carnevale Syndrome, Formerly
  • 46,XX Sex Reversal 3
    • 46,Xx Sex Reversal, Sox3-Related
    • Chromosome Xq26 Duplication Syndrome
  • 46,XX Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
    • Serkal Syndrome
  • 46,XY Sex Reversal 3
    • 46,XY Gonadal Dysgenesis, Complete Or Partial, With Or Without Adrenal Failure
    • 46,XY Sex Reversal, Partial or Complete, NR5A1-Related 4
    • Sex Reversal, XY, With Or Without Adrenal Failure Disorder Of Sex Development, 46,XY
  • 46,XY Sex Reversal 6
    • 46,XY Gonadal Dysgenesis, Partial Or Complete, MAP3K1-Related
    • 46,XY Sex Reversal, Partial Or Complete, MAP3K1-Related
  • 46,XY Sex Reversal 9
    • 46,XY sex reversal, ZFPM2-related
  • Aarskog-Scott Syndrome
    • Aarskog Syndrome, X-Linked
    • Faciodigitogenital Syndrome
    • Faciogenital Dysplasia
  • ABCD Syndrome
    • Albinism, Black Lock, Cell Migration Disorder Of The Neurocytes Of The Gut, And Deafness
  • Achalasia-Addisonianism-Alacrima Syndrome
    • ACTH-Resistant Adrenal Insufficiency, Achalasia And Alacrima
    • Addisonian-Achalasia Syndrome
    • Alacrima-Achalasia-Addisonianism
    • Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder
    • Allgrove Syndrome
    • Glucocorticoid Deficiency And Achalasia
    • Hypoadrenalism With Achalasia
    • Triple-A Syndrome
  • Achondrogenesis, Type Ia
    • Achondrogenesis, Houston-Harris Type
  • Achondrogenesis, Type Ib
    • Achondrogenesis, Fraccaro Type
  • Achondrogenesis, Type II
    • Achondrogenesis, Langer-Saldino Type
    • Achondrogenesis, Type 2
    • Achondrogenesis, Type Ib, Formerly
    • Chondrogenesis Imperfecta
  • Achondroplasia
  • Acrocallosal Syndrome
    • Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum
    • Schinzel Acrocallosal Syndrome
  • Acrocapitofemoral Dysplasia
  • Acrodysostosis-1, with or without Hormone Resistance
  • Acrodysostosis-2, with or without Hormone Resistance
  • Acrofacial Dysostosis 1, Nager Type
    • Afd, Nager Type
    • Mandibulofacial Dysostosis, Treacher Collins Type, With Limb Anomalies
    • Nager Acrofacial Dysostosis
    • Nager Syndrome
  • Acromelic Frontonasal Dysostosis
  • Acromesomelic Dysplasia, Hunter-Thompson Type
    • Acromesomelic Dwarfism
  • Acromesomelic Dysplasia, Maroteaux Type
    • St. Helena Dysplasia
  • ACTH-Independent Macronodular Adrenal Hyperplasia
  • Acyl-CoA Dehydrogenase, Short-Chain, Deficiency Of
    • ACADS Deficiency
    • Lipid-Storage Myopathy Secondary To Short-Chain Acyl-CoA Dehydrogenase Deficiency
    • SCAD Deficiency
    • SCADH Deficiency
  • Acyl-CoA Dehydrogenase, Very Long-Chain, Deficiency Of
    • VLCAD Deficiency
  • Adams-Oliver Syndrome 1
    • Absence Defect Of Limbs, Scalp, And Skull
    • Aplasia Cutis Congenita With Terminal Transverse Limb Defects
    • Congenital Scalp Defects With Distal Limb Reduction Anomalies
  • Adams-Oliver Syndrome 2
  • Adams-Oliver Syndrome 3
  • Adenylosuccinase Deficiency
    • Adenylosuccinate Lyase Deficiency
    • ADSL Deficiency
  • Adrenoleukodystrophy
    • Addison Disease And Cerebral Sclerosis
    • Adrenomyeloneuropathy
    • Bronze Schilder Disease
    • Melanodermic Leukodystrophy
    • Siemerling-Creutzfeldt Disease
  • ADULT Syndrome
    • Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome
  • Agammaglobulinemia 7, Autosomal Recessive
    • Agammaglobulinemia, Autosomal Recessive, Due To PIK3R1 Defect
  • Agenesis of the Corpus Callosum with Peripheral Neuropathy
    • Andermann Syndrome
    • Charlevoix Disease
    • Corpus Callosum, Agenesis Of, With Neuronopathy
    • Polyneuropathy, Sensorimotor, With Or Without Agenesis Of The Corpus Callosum
  • Agnathia-Otocephaly Complex
    • Dysgnathia Complex Agnathia-Holoprosencephaly
    • Holoprosencephaly-Agnathia
    • Otocephaly
  • AICAR Transformylase/IMP Cyclohydrolase Deficiency
    • Aica-Ribosuria Due To Atic Deficiency
    • Atic Deficiency
  • Aicardi-Goutieres Syndrome 1
    • Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis
  • Aicardi-Goutieres Syndrome 2
  • Aicardi-Goutieres Syndrome 3
  • Aicardi-Goutieres Syndrome 4
  • Aicardi-Goutieres Syndrome 6
  • Aicardi-Goutieres Syndrome 7
  • Alacrima, Achalasia, And Mental Retardation Syndrome
    • 0
  • Alagille Syndrome 1
    • Alagille Syndrome
    • Alagille-Watson Syndrome
    • Arteriohepatic Dysplasia
    • Cholestasis With Peripheral Pulmonary Stenosis
    • Hepatic Ductular Hypoplasia, Syndromatic
  • Alazami syndrome
    • Facial Dysmorphism, Intellectual Disability, and Primordial Dwarfism
  • Albinism, Ocular, With Sensorineural Deafness
    • Waardenburg Syndrome, Type 2, with Ocular Albinism, Autosomal Recessive
  • Albinism, Oculocutaneous, Type Ia
    • Albinism I
    • Oculocutaneous Albinism, Type I
    • Oculocutaneous Albinism, Tyrosinase-Negative
  • Albinism, Oculocutaneous, Type III
    • Albinism III
    • Oculocutaneous Albinism, Type III
    • Rufous Oculocutaneous Albinism
    • Xanthism
  • Alexander Disease
  • Allan-Herndon-Dudley Syndrome
    • Allan-Herndon Syndrome
    • Mental Retardation And Muscular Atrophy
    • Mental Retardation, X-Linked, With Hypotonia
    • Monocarboxylate Transporter 8 Deficiency
    • T3 Resistance
    • Triiodothyronine Resistance
  • Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
    • Ane Syndrome
  • Alpha-Methylacetoacetic Aciduria
    • 2-Methyl-3-Hydroxybutyric Acidemia|Beta-Ketothiolase Deficiency
    • 3-Ketothiolase Deficiency
    • 3-KTD Deficiency
    • 3-Oxothiolase Deficiency
    • Mat Deficiency
    • Mitochondrial Acetoacetyl-CoA Thiolase Deficiency
    • T2 Deficiency
  • Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
    • Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type
    • ATR-X Syndrome
  • Alport Syndrome, Autosomal Dominant
  • Alport Syndrome, Autosomal Recessive
  • Alstrom Syndrome
    • Alss
  • Alternating Hemiplegia Of Childhood 1
  • Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
    • Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins And Other Congenital Anomalies
    • Pulmonary Hypertension, Familial Persistent, Of The Newborn
  • Amelogenesis Imperfecta, Type IG
    • Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome; AIGFS
    • Amelogenesis Imperfecta, Hypoplastic, With Nephrocalcinosis
    • Enamel-Renal Syndrome
    • Enamel-Renal-Gingival Syndrome
  • AMME Complex
    • Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis
    • Ats-Mr
    • Chromosome Xq22.3 Telomeric Deletion Syndrome
  • Anaemia, Congenital Dyserythropoietic, Type II
    • Anemia, Congenital Dyserythropoietic, Type II
    • Dyserythropoietic Anaemia, Congenital, Type II
    • Dyserythropoietic Anaemia, Hempas Type
    • Dyserythropoietic Anemia, Congenital, Type II
    • Dyserythropoietic Anemia, Hempas Type
    • Hereditary Erythroblastic Multinuclearity With Positive Acidified-Serum Test
  • Anaemia, Congenital Dyserythropoietic, Type IV
    • Anemia, Congenital Dyserythropoietic, Type IV
    • CDA, Type IV
  • Anaemia, Sideroblastic, And Spinocerebellar Ataxia
    • Anemia, Sideroblastic, And Spinocerebellar Ataxia
  • Androgen Insensitivity Syndrome
    • Androgen Receptor Deficiency
    • Ar Deficiency
    • Dhtr Deficiency
    • Dihydrotestosterone Receptor Deficiency
    • Testicular Feminization Syndrome
  • Anemia, Sideroblastic, 2, Pyridoxine-Refractory
    • Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive
  • Aniridia 1
    • Aniridia
    • Aniridia II, Formerly
  • Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
    • Aec Syndrome
    • Hay-Wells Syndrome
  • Anterior Segment Dysgenesis 1
    • Anterior Segment Mesenchymal Dysgenesis
    • Anterior Segment Ocular Dysgenesis
  • Anterior Segment Dysgenesis 2
    • Aphakia, Congenital Primary
  • Anterior Segment Dysgenesis 3
    • Iridogoniodysgenesis Anomaly, Autosomal Dominant
    • Iridogoniodysgenesis, Type 1
  • Anterior Segment Dysgenesis 4
    • IRID2
    • Iridogoniodysgenesis Syndrome
    • Iridogoniodysgenesis, Type 2
    • Iris Hypoplasia With Early-Onset Glaucoma, Autosomal Dominant
  • Anterior Segment Dysgenesis 5
    • Peters Anomaly
  • Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
    • Antley-Bixler Syndrome
    • Multisynostotic Osteodysgenesis With Long Bone Fractures
    • Osteodysgenesis, Multisynostotic, With Fractures
    • Trapezoidocephaly-Synostosis Syndrome
  • Aortic Aneurysm, Familial Thoracic 6
    • Familial Thoracic Aortic Aneurysm With Livedo Reticularis And Iris Flocculi
  • Aortic Valve Disease 1
    • Aortic Stenosis, Calcific
    • Aortic Valve Disease
    • Aortic Valve, Bicuspid
    • Aortic Valve, Calcification Of
    • Bicuspid Aortic Valve
  • Apert Syndrome
    • Acrocephalosyndactyly, Type I
    • Acrocephalosyndactyly, Type II, Included
    • Acs I
    • Acs II, Included
    • Apert-Crouzon Disease
    • Vogt Cephalodactyly, Included
  • Argininemia
    • ARG1 Deficiency
    • Arginase Deficiency
    • Hyperargininemia
  • Argininosuccinic Aciduria
    • Argininosuccinase Deficiency
    • Argininosuccinate Lyase Deficiency
    • Argininosuccinic Acid Lyase Deficiency
    • ASL Deficiency
  • Arterial Calcification, Generalized, Of Infancy, 1
    • Arterial Calcification, Idiopathic Infantile
    • Arteriopathy, Occlusive Infantile
    • GACI
    • Idiopathic Infantile Arterial Calcification
  • Arterial Calcification, Generalized, Of Infancy, 2
  • Arterial Tortuosity Syndrome
    • Arterial Tortuosity
  • Arthrogryposis, Distal, Type 2a
    • Craniocarpotarsal Dysplasia
    • Craniocarpotarsal Dystrophy
    • Freeman-Sheldon Syndrome
    • Whistling Face-Windmill Vane Hand Syndrome
  • Arthrogryposis, Distal, Type 2b
    • Arthrogryposis Multiplex Congenita, Distal, Type 2B
    • Arthrogryposis Multiplex Congenita, Distal, Type II, With Craniofacial Abnormalities
    • Freeman-Sheldon Syndrome Variant
    • Sheldon-Hall Syndrome
  • Arthrogryposis, Distal, Type 3
    • Arthrogryposis Multiplex Congenita, Distal, Type Iia
    • Camptodactyly, Cleft Palate, And Clubfoot
    • Gordon Syndrome
  • Arthrogryposis, Distal, Type 5d
  • Arthrogryposis, Distal, Type 7
    • Hecht Syndrome
    • Mouth, Inability To Open Completely, And Short Finger-Flexor Tendons
    • Trismus-Pseudocamptodactyly Syndrome
  • Arthrogryposis, Distal, Type 9
    • Beals Syndrome
    • Contractural Arachnodactyly, Congenital
  • Arthrogryposis, Renal Dysfunction, And Cholestasis 1
    • Arc Syndrome
    • Arthrogryposis, Renal Dysfunction, And Cholestasis
  • Arthrogryposis, Renal Dysfunction, And Cholestasis 2
  • Aspartylglucosaminuria
    • Aga Deficiency|Glycoasparaginase
    • Aspartylglucosaminidase Deficiency
    • Aspartylglycosaminuria
    • Glycosylasparaginase Deficiency
  • Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
    • Ataxia-Oculomotor Apraxia 1
    • Ataxia-Oculomotor Apraxia Syndrome
    • Ataxia-Telangiectasia-Like Syndrome
    • Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia
  • Ataxia-Telangiectasia
    • AT, Complementation Group A, Included
    • AT, Complementation Group C, Included
    • AT, Complementation Group D, Included
    • At, Complementation Group E, Included
    • ATaxia-Telangiectasia Variant, Included
    • Louis-Bar Syndrome
  • Ataxia-Telangiectasia-Like Disorder 1
    • Ataxia-Telangiectasia-Like Disorder
  • Atelosteogenesis, Type I
    • Giant Cell Chondrodysplasia
    • Spondylohumerofemoral Hypoplasia
  • Atelosteogenesis, Type II
    • Neonatal Osseous Dysplasia I
  • Atelosteogenesis, Type III
  • Athabaskan Brainstem Dysgenesis Syndrome
    • Bosley-Salih-Alorainy Syndrome
    • Navajo Brainstem Syndrome
  • Atpase, H+ Transporting, Lysosomal, Accessory Protein 1
    • Atp6ip1
    • Atp6s1
    • Vacuolar Atpase Subunit 1|Ac45
  • Atrial Septal Defect 2
  • Atrial Septal Defect 4
  • Atrial Septal Defect 6
  • Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
    • Asd With Or Without Atrioventricular Conduction Defects
  • Atrial Septal Defect 9
  • Atrichia With Papular Lesions
    • Papular Atrichia
  • Atrioventricular Septal Defect 5
  • Aural Atresia, Congenital
    • Aural Atresia, Congenital, With Hyposmia
  • Auriculocondylar Syndrome 1
    • Question Mark Ears Syndrome
  • Auriculocondylar Syndrome 3
  • Autism
    • Autism Spectrum Disorder, Included
    • Autism, Susceptibility To, 1, Included
    • Autistic Disorder
  • Autism, Susceptibility To, 15
  • Autism, Susceptibility To, 16
    • Autism With Or Without Seizures
  • Autism, Susceptibility To, 17
  • Autism, Susceptibility To, X-Linked 2
    • Mental Retardation, X-Linked, Included
  • Autism, Susceptibility To, X-Linked 4
    • Chromosome Xp22 Deletion Syndrome
  • Autoimmune Disease, Multisystem, With Facial Dysmorphism
  • Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
    • Autoimmune Polyendocrine Syndrome, Type
    • Autoimmune Polyendocrine Syndrome, Type I
    • Autoimmune Polyendocrinopathy Syndrome, Type I
    • Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant, Included
    • Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
    • Autoimmune Polyglandular Syndrome, Type I
    • Hypoadrenocorticism With Hypoparathyroidism And Superficial Moniliasis
    • Polyglandular Autoimmune Syndrome, Type I
    • Polyglandular Deficiency Syndrome, Persian-Jewish Type, Included
  • Autoinflammation, Antibody Deficiency, And Immune Dysregulation, PLCG2-Associated
  • Autoinflammation, Lipodystrophy, And Dermatosis Syndrome
    • Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy And Elevated Temperature Syndrome
    • Joint Contractures, Muscular Atrophy, Microcytic Anemia, And Panniculitis-Induced Lipodystrophy
    • Nakajo-Nishimura Syndrome
  • Avascular Necrosis Of Femoral Head, Primary, 1
    • Avascular Necrosis Of Femoral Head, Primary
    • Femoral Head, Aseptic Necrosis Of
    • Femoral Head, Avascular Necrosis Of
    • Ischemic Necrosis Of Femoral Head
    • Osteonecrosis Of Femoral Head
  • Axenfeld-Rieger Syndrome, Type 1
    • Rieger Syndrome, Type 1
  • Axenfeld-Rieger Syndrome, Type 3
    • Anterior Chamber Cleavage Syndrome
    • Anterior Segment Mesenchymal Dysgenesis
    • Axenfeld-Rieger Anomaly With Or Without Cardiac Defects And/or Sensorineural Hearing Loss
    • Rieger Syndrome, Type 3
  • Bainbridge-Ropers Syndrome
  • Baller-Gerold Syndrome
    • Craniosynostosis With Radial Defects
    • Craniosynostosis-Radial Aplasia Syndrome
  • Bannayan-Riley-Ruvalcaba Syndrome
    • Bannayan-Zonana Syndrome
    • Macrocephaly, Multiple Lipomas, And Hemangiomata
    • Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata
    • Riley-Smith Syndrome, Included
    • Ruvalcaba-Myhre-Smith Syndrome
  • Baraitser-Winter Syndrome 1
    • Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation
  • Bardet-Biedl Syndrome 1
  • Bardet-Biedl Syndrome 10
  • Bardet-Biedl Syndrome 11
  • Bardet-Biedl Syndrome 12
  • Bardet-Biedl Syndrome 13
  • Bardet-Biedl Syndrome 14
  • Bardet-Biedl Syndrome 15
  • Bardet-Biedl Syndrome 2
  • Bardet-Biedl Syndrome 3
  • Bardet-Biedl Syndrome 4
  • Bardet-Biedl Syndrome 5
  • Bardet-Biedl Syndrome 7
  • Bardet-Biedl Syndrome 8
  • Bardet-Biedl Syndrome 9
  • Barth Syndrome
    • 3-@methylglutaconicaciduria, Type II
    • Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria
    • Mga, Type II
  • Bartter Syndrome, Type 4a, Neonatal With Sensorineural Deafness
    • Bartter Syndrome, Infantile, With Sensorineural Deafness
    • Bartter Syndrome, Type 4a
  • Bartter Syndrome, Type 4b, Neonatal, With Sensorineural Deafness
    • Bartter Syndrome, Type 4b
  • Basal Cell Nevus Syndrome
    • Fifth Phacomatosis
    • Gorlin Syndrome
    • Gorlin-Goltz Syndrome
    • Hydrocephalus, Costovertebral Dysplasia, And Sprengel Anomaly, Included
    • Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
    • Nevoid Basal Cell Carcinoma Syndrome
  • Beare-Stevenson Cutis Gyrata Syndrome
    • Cutis Gyrata Syndrome Of Beare And Stevenson
  • Beckwith-Wiedemann Syndrome
    • Beckwith-Wiedemann Syndrome Chromosome Region, Included
    • Emg Syndrome
    • Exomphalos-Macroglossia-Gigantism Syndrome
    • Wiedemann-Beckwith Syndrome
  • Biotinidase Deficiency
    • Btd Deficiency
    • Multiple Carboxylase Deficiency, Juvenile-Onset
    • Multiple Carboxylase Deficiency, Late-Onset
  • Birk-Barel Mental Retardation Dysmorphism Syndrome
    • Birk-Barel Syndrome
    • Mental Retardation With Hypotonia And Facial Dysmorphism
  • Blepharophimosis, Ptosis, And Epicanthus Inversus
    • Bpes With Duane Retraction Syndrome, Included
    • Bpes With Ovarian Failure, Included
    • Bpes Without Ovarian Failure, Included
    • Bpes, Type I, Autosomal Recessive, Included
    • Bpes, Type I, Included
    • Bpes, Type II, Included
  • Bloom Syndrome
  • Bohring-Opitz Syndrome
    • Bohring Syndrome
    • C-Like Syndrome
    • Opitz Trigonocephaly-Like Syndrome
  • Bone Fragility With Contractures, Arterial Rupture, And Deafness
    • LH3 Deficiency
    • Lysyl Hydroxylase 3 Deficiency
  • Bone Marrow Failure Syndrome 2
  • Bone Mineral Density Quantitative Trait Locus 1
  • Boomerang Dysplasia
  • Borjeson-Forssman-Lehmann Syndrome
    • Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type|Borjeson Syndrome|Mental Retardation, Epilepsy, And Endocrine Disorders
  • Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
  • Bpi Fold-Containing Protein, Family B, Member 6
    • Bactericidal Permeability-Increasing Protein-Like 3
  • Brachydactyly, Type A1
    • Farabee-Type Brachydactyly
  • Brachydactyly, Type A2
    • Brachymesophalangy II
    • Mohr-Wriedt Type Brachydactyly
  • Brachydactyly, Type B1
    • Brachydactyly, Type B
  • Brachydactyly, Type B2
  • Brachydactyly, Type C
    • Brachydactyly, Haws Type
  • Brachydactyly, Type D
    • Stub Thumb
  • Brachydactyly, Type E1
    • Brachydactyly, Type E
  • Brachydactyly-Syndactyly Syndrome
  • Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
    • Semd, Pakistani Type
    • Spondylodysplasia And Premature Pubarche
    • Spondyloepimetaphyseal Dysplasia, Pakistani Type
  • Brain Malformations And Urinary Tract Defects
    • Chromosome 1p32-p31 Deletion Syndrome
  • Branchiooculofacial Syndrome
    • BOF Syndrome
    • Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, And Premature Aging
    • Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
    • Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome
  • Branchiootic Syndrome 3
    • Bo Syndrome 3
  • Branchiootorenal Syndrome 1
    • Bor Syndrome
    • Branchiootorenal Dysplasia
    • Melnick-Fraser Syndrome
  • Branchiootorenal Syndrome 2
  • Breasts and/or Nipples, Aplasia or Hypoplasia of, 2
    • 0
  • Brown-Vialetto-Van Laere Syndrome 1
    • Bulbar Palsy, Progressive, With Sensorineural Deafness
    • Pontobulbar Palsy With Deafness
  • Bruck Syndrome 2
    • Osteogenesis Imperfecta With Congenital Joint Contractures
  • Brugada Syndrome 5
  • Brunner Syndrome
  • Buschke-Ollendorff Syndrome
    • Dermatofibrosis Lenticularis Disseminata With Osteopoikilosis
    • Dermatofibrosis, Disseminated, With Osteopoikilosis
    • Dermatoosteopoikilosis
    • Osteopathia Condensans Disseminata
  • C Syndrome
    • Opitz Trigonocephaly Syndrome
    • Trigonocephaly Syndrome
  • Caffey Disease
  • Campomelic Dysplasia
    • Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal, Included
    • Acampomelic Campomelic Dysplasia, Included
    • Campomelic Dysplasia With Autosomal Sex Reversal, Included
    • Camptomelic Dysplasia, Included
  • Camptodactyly, Tall Stature, And Hearing Loss Syndrome
  • Canavan Disease
    • Acy2 Deficiency
    • Aminoacylase 2 Deficiency
    • Asp Deficiency
    • Aspa Deficiency
    • Aspartoacylase Deficiency
    • Canavan-Van Bogaert-Bertrand Disease
    • Spongy Degeneration Of Central Nervous System
  • Cantu Syndrome
    • Hypertrichotic Osteochondrodysplasia
  • Capicua, Drosophila, Homolog Of
    • KIAA0306
  • Capillary Malformation-Arteriovenous Malformation
  • Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
    • Carbamoyl Phosphate Synthetase I Deficiency
    • Cps I Deficiency
  • Carbonic Anhydrase VA Deficiency, Hyperammonemia Due To
  • Cardiac Valvular Dysplasia, X-Linked
    • Myxomatous Valvular Dystrophy, X-Linked
    • Valvular Heart Disease, Congenital
  • Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 1
    • Cytochrome C Oxidase Deficiency, Fatal Infantile, With Cardioencephalomyopathy
  • Cardiofaciocutaneous Syndrome 1
    • CFC Syndrome
  • Cardiomyopathy, Dilated, 1A
    • Cardiomyopathy, Congestive
    • Cardiomyopathy, Dilated, With Conduction Defect 1
    • Cardiomyopathy, Familial Idiopathic
    • Cardiomyopathy, Idiopathic Dilated
  • Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
    • Cardiomyopathy, Dilated, 1c, With Or Without Left Ventricular Noncompaction; CMD1C
    • Cardiomyopathy, Familial Hypertrophic, 24, Included; CMH24, Included
  • Cardiomyopathy, Dilated, 1X
    • Cardiomyopathy, Dilated, With Mild Or No Proximal Muscle Weakness
  • Cardiomyopathy, Dilated, 3B
    • Cardiomyopathy, Dilated, X-Linked
  • Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
    • Cardiogenital Syndrome
    • Cardiomyopathy With Primary Testicular Failure
    • Cardiomyopathy, Congestive, With Hypergonadotropic Hypogonadism
    • Cardiomyopathy, Dilated, With Premature Ovarian Failure
    • Genital Anomaly With Cardiomyopathy
    • Malouf Syndrome
    • Najjar Syndrome
  • Carney Complex Variant
  • Carnitine Deficiency, Systemic Primary
    • Carnitine Deficiency, Primary
    • Carnitine Deficiency, Systemic, Due To Defect In Renal Reabsorption Of Carnitine
    • Carnitine Transporter, Plasma-Membrane, Deficiency Of
    • Carnitine Uptake Defect
    • Systemic Carnitine Deficiency
  • Carnitine-Acylcarnitine Translocase Deficiency
    • Cact Deficiency
    • Carnitine-Acylcarnitine Carrier
    • Carnitine-Acylcarnitine Translocase
  • Carpenter Syndrome
    • Acps II
    • Acrocephalopolysyndactyly Type II
  • Cataract 1, Multiple Types
    • Cataract 1, Multiple Types, With Or Without Microcornea
    • Cataract, Duffy-Linked
    • Cataract, Zonular Pulverulent, 1
  • Cataract 10, Multiple Types
    • Cataract, Congenital Zonular, With Sutural Opacities
  • Cataract 11, Multiple Types
    • Cataract, Posterior Polar, 4
  • Cataract 12, Multiple Types
  • Cataract 17, Multiple Types
    • Cataract, Congenital Nuclear, Autosomal Recessive 3
  • Cataract 18
    • Cataract, Autosomal Recessive Congenital 2
  • Cataract 2, Multiple Types
    • Cataract 2, Multiple Types, With Or Without Microcornea
    • Cataract, Coppock-Like
  • Cataract 21, Multiple Types
    • Cataract 21, Multiple Types, With Or Without Microcornea
    • Cataract, Congenital, Cerulean Type, 4
    • Cataract, Pulverulent, Juvenile-Onset
  • Cataract 22, Multiple Types
    • Cataract, Congenital Nuclear, Autosomal Recessive 2
  • Cataract 23
    • Cataract 23, Lamellar
  • Cataract 3, Multiple Types
    • Cataract 3, Multiple Types, With Or Without Microcornea
    • Cataract, Congenital, Cerulean Type, 2
  • Cataract 36
    • Cataract, Autosomal Recessive Congenital 4
  • Cataract 4, Multiple Types
    • Cataract 4, Multiple Types, With Or Without Microcornea
    • Cataract, Congenital, Cerulean Type, 3
    • Cataract, Crystalline Aculeiform
    • Cataract, Nonnuclear Polymorphic Congenital
    • Cataract, Punctate, Progressive Juvenile-Onset
  • Cataract 40
    • Cataract 40 With Or Without Microcornea
    • Cataract, Congenital Total, With Posterior Sutural Opacities In Heterozygotes
    • Cataract, Congenital, X-Linked
  • Cataract 5, Multiple Types
    • Cataract, Lamellar
    • Cataract, Marner Type
  • Cataract 9, Multiple Types
    • Cataract 9, Multiple Types, With Or Without Microcornea
    • Cataract, Autosomal Dominant
    • Cataract, Autosomal Recessive Congenital 1
  • Caudal Duplication Anomaly
  • Cenani-Lenz syndactyly syndrome
    • Cenani Syndactylism
    • Cenani-Lenz Syndactyly
    • Syndactyly, Type VII
  • Central Hypoventilation Syndrome, Congenital
    • Autonomic Control, Congenital Failure Of
    • Cchs With Hirschsprung Disease, Included
    • Congenital Central Hypoventilation Syndrome
    • Haddad Syndrome, Included
    • Ondine Curse, Congenital
    • Ondine-Hirschsprung Disease, Included
  • Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
    • Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 3
  • Cerebellar Ataxia, Nonprogressive, With Mental Retardation
  • Cerebral Cavernous Malformations
    • Cavernous Angioma, Familial
    • Cavernous Angiomatous Malformations
    • Cavernous Malformations Of Cns And Retina, Included
    • Cerebral Capillary Malformations
    • Cerebral Cavernous Malformations 1, Included; Ccm1, Included
    • Hemangioma, Cavernous, Of Brain
    • Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations, Included
  • Cerebral Creatine Deficiency Syndrome 1
    • Creatine Deficiency Syndrome, X-Linked|Creatine Transporter Defect|Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia|Mental Retardation, X-Linked, With Creatine Transport Deficiency
  • Cerebral Creatine Deficiency Syndrome 2
    • Guanidinoacetate Methyltransferase Deficiency|Gamt Deficiency|Creatine Deficiency Syndrome Due To Gamt Deficiency
  • Cerebral Creatine Deficiency Syndrome 3
    • Arginine:Glycine Amidinotransferase Deficiency|Agat Deficiency|Gatm Deficiency|Creatine Deficiency Syndrome Due To Agat Deficiency
  • Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
    • Cednik Syndrome
  • Cerebral Palsy, Spastic Quadriplegic, 1
  • Cerebral Palsy, Spastic Quadriplegic, 2
  • Cerebrooculofacioskeletal Syndrome 1
    • COFS Syndrome
    • Pena-Shokeir Syndrome, Type II
  • Cerebrooculofacioskeletal Syndrome 2
  • Cerebrooculofacioskeletal Syndrome 4
  • Cerebroretinal Microangiopathy With Calcifications And Cysts
    • Coats Plus Syndrome
  • Ceroid Lipofuscinosis, Neuronal, 1
    • Ceroid Lipofuscinosis, Neuronal 1, Infantile
    • Ceroid Lipofuscinosis, Neuronal, 1, Variable Age At Onset
    • Infantile Neuronal Ceroid Lipofuscinosis
    • Neuronal Ceroid Lipofuscinosis, Infantile Finnish Type
    • Santavuori Disease
    • Santavuori-Haltia Disease
  • Ceroid Lipofuscinosis, Neuronal, 2
    • Ceroid Lipofuscinosis, Neuronal 2, Late Infantile
    • Ceroid Lipofuscinosis, Neuronal, 2, Variable Age At Onset
    • Jansky-Bielschowsky Disease
    • Ncl, Late Infantile
    • Neuronal Ceroid Lipofuscinosis, Late Infantile
  • Ceroid Lipofuscinosis, Neuronal, 3
    • Batten Disease
    • Ceroid Lipofuscinosis, Neuronal 3, Juvenile
    • Neuronal Ceroid Lipofuscinosis, Juvenile Type
    • Vogt-Spielmeyer Disease
  • Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive
  • Ceroid Lipofuscinosis, Neuronal, 5
    • Ceroid Lipofuscinosis, Neuronal, 5, Variable Age At Onset
    • Finnish Vlincl, Included
    • Neuronal Ceroid Lipofuscinosis, Late Infantile, Finnish Variant, Included
  • Ceroid Lipofuscinosis, Neuronal, 6
    • Ceroid Lipofuscinosis, Neuronal, 6, Variable Age At Onset
    • Neuronal Ceroid Lipofuscinosis, Late Infantile, Variant, Included
    • Vlincl, Included
  • Ceroid Lipofuscinosis, Neuronal, 7
  • Ceroid Lipofuscinosis, Neuronal, 8
  • Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
    • Northern Epilepsy|Epilepsy, Progressive, With Mental Retardation
  • Chanarin-Dorfman Syndrome
    • Chanarin-Dorfman Disease
    • Dorfman-Chanarin Syndrome
    • Ichthyosiform Erythroderma With Leukocyte Vacuolation
    • Ichthyotic Neutral Lipid Storage Disease
    • Neutral Lipid Storage Disease With Ichthyosis
    • Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation
  • Char Syndrome
    • Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits
  • Charcot-Marie-Tooth Disease, Axonal, Type 2B1
    • Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, B1
    • Charcot-Marie-Tooth Disease, Neuronal, Type 2B1
    • Charcot-Marie-Tooth Neuropathy, Type 2B1
  • Charcot-Marie-Tooth Disease, Recessive Intermediate B
    • Charcot-Marie-Tooth Neuropathy, Recessive Intermediate B
  • Charcot-Marie-Tooth Disease, Type 4J
    • Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4J
  • CHARGE Syndrome
    • Charge Association - Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Abnormalities
  • Chediak-Higashi Syndrome
  • Choanal Atresia And Lymphedema
  • Cholestasis, Progressive Familial Intrahepatic, 2
  • Chondrocalcinosis 2
    • Calcium Gout
    • Calcium Pyrophosphate Arthropathy
    • Calcium Pyrophosphate Dihydrate Deposition Disease
    • Chondrocalcinosis, Familial Articular
  • Chondrodysplasia Punctata 1, X-Linked Recessive
    • Chondrodysplasia Punctata, Brachytelephalangic
    • Cpxr
  • Chondrodysplasia Punctata 2, X-Linked Dominant
    • Conradi-Hunermann Syndrome
    • Conradi-Hunermann-Happle Syndrome
    • Happle Syndrome
  • Chondrodysplasia With Joint Dislocations, Gpapp Type
    • Gpapp Deficiency
  • Chondrodysplasia, Blomstrand Type
  • Chondrodysplasia, Grebe Type
    • Achondrogenesis, Brazilian
    • Achondrogenesis, Type Ii, Formerly
    • Acromesomelic Dysplasia, Grebe Type
    • Grebe Chondrodysplasia
    • Grebe Dysplasia
  • Chorea, Benign Hereditary
    • Bch
    • Hereditary Progressive Chorea Without Dementia
  • Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
    • Brain-Lung-Thyroid Syndrome
  • Choroideremia
    • Choroidal Sclerosis, Included
    • Tapetochoroidal Dystrophy, Progressive
  • Chromosome 2q37 Deletion Syndrome
    • Albright Hereditary Osteodystrophy-Like Syndrome
    • Brachydactyly-Mental Retardation Syndrome
  • Chudley-Mccullough Syndrome
    • Deafness, Autosomal Recessive 82
    • Deafness, Sensorineural, With Partial Agenesis Of The Corpus Callosum And Arachnoid Cysts
  • Ciliary Dyskinesia, Primary, 1
    • Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
    • Immotile Cilia Syndrome
    • Polynesian Bronchiectasis
  • Ciliary Dyskinesia, Primary, 17
    • Ciliary Dyskinesia, Primary, 17, With Or Without Situs Inversus
  • Ciliary Dyskinesia, Primary, 18
    • Ciliary Dyskinesia, Primary, 18, With Or Without Situs Inversus
  • Ciliary Dyskinesia, Primary, 19
    • Ciliary Dyskinesia, Primary, 19, With Or Without Situs Inversus
  • Ciliary Dyskinesia, Primary, 20
    • Ciliary Dyskinesia, Primary, 20, With Or Without Situs Inversus
  • Ciliary Dyskinesia, Primary, 22
    • Ciliary Dyskinesia, Primary, 22, With Or Without Situs Inversus
  • Ciliary Dyskinesia, Primary, 23
    • Ciliary Dyskinesia, Primary, 23, With Or Without Situs Inversus
  • Ciliary Dyskinesia, Primary, 25
  • Ciliary Dyskinesia, Primary, 27
  • Ciliary Dyskinesia, Primary, 28
  • Ciliary Dyskinesia, Primary, 29
    • Ciliary Dyskinesia, Primary, 29, Without Situs Inversus
  • Ciliary Dyskinesia, Primary, 30
    • Ciliary Dyskinesia, Primary, 30, With Or Without Situs Inversus
  • Ciliary Dyskinesia, Primary, 5
    • Ciliary Dyskinesia, Primary, 5, Without Situs Inversus
  • Citrullinemia, Classic
    • Argininosuccinate Synthetase Deficiency
    • ASS Deficiency
    • Citrullinemia, Type I
    • Citrullinuria
  • CK Syndrome
    • Mental Retardation, X-Linked, With Thin Body Habitus And Cortical Malformation
  • Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
    • Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 7, Included
    • Ectodermal Dysplasia, Cleft Lip And Palate, Mental Retardation, And Syndactyly
    • Ectodermal Dysplasia, Margarita Island Type
    • Ectodermal Dysplasia, Type 4
    • Orofacial Cleft 7, Included
    • Zlotogora-Ogur Syndrome
  • Cleft Palate With or Without Ankyloglossia, X-Linked
    • 0
  • Cleft Palate, Isolated
    • Cleft Palate
  • Cleidocranial Dysplasia
    • Cleidocranial Dysostosis
    • Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only, Included
    • Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly, Included
  • Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
  • COACH Syndrome
    • Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis
    • Joubert Syndrome With Congenital Hepatic Fibrosis
  • Cockayne Syndrome A
    • Cockayne Syndrome, Type A
  • Cockayne Syndrome B
    • Cockayne Syndrome, Type B
  • Cocoon Syndrome
    • Fetal Encasement Syndrome
  • Coenzyme Q10 Deficiency, Primary, 1
    • Coenzyme Q Deficiency 1
    • CoQ Deficiency 1
    • CoQ10 Deficiency, Primary, 1
    • Ubiquinone Deficiency 1
  • Coenzyme Q10 Deficiency, Primary, 2
  • Coenzyme Q10 Deficiency, Primary, 3
  • Coenzyme Q10 Deficiency, Primary, 5
  • Coffin-Lowry Syndrome
  • Coffin-Siris Syndrome 1
    • Coffin-Siris Syndrome
    • Fifth Digit Syndrome
    • Mental Retardation, Autosomal Dominant 12
  • Cognitive Impairment With Or Without Cerebellar Ataxia
  • Cohen Syndrome
    • Coh|Hypotonia, Obesity, And Prominent Incisors|Pepper Syndrome|Chs1, Formerly
  • Coloboma Of Optic Nerve
  • Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
    • Chime Syndrome
    • Glycosylphosphatidylinositol Biosynthesis Defect 5
    • Zunich Neuroectodermal Syndrome
  • Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
  • Combined Oxidative Phosphorylation Deficiency 1
    • Hepatoencephalopathy, Early Fatal Progressive
  • Combined Oxidative Phosphorylation Deficiency 10
    • Cardiomyopathy, Infantile Hypertrophic Mitochondrial, And Lactic Acidosis
  • Combined Oxidative Phosphorylation Deficiency 11
    • Encephaloneuromyopathy, Infantile, Due To Mitochondrial Translation Defect
  • Combined Oxidative Phosphorylation Deficiency 13
  • Combined Oxidative Phosphorylation Deficiency 4
  • Combined Oxidative Phosphorylation Deficiency 6
    • Encephalomyopathy, Mitochondrial, X-Linked
  • Cone-Rod Dystrophy 13
  • Cone-Rod Dystrophy 16
    • Retinal Dystrophy With Early Macular Involvement
  • Cone-Rod Dystrophy 20
  • Congenital Anomalies Of Kidney And Urinary Tract 1, Susceptibility To
    • Renal Hypodysplasia, Nonsyndromic, 1
  • Congenital Cataracts, Facial Dysmorphism, and Neuropathy
    • Cataract, Congenital, With Facial Dysmorphism And Neuropathy
  • Congenital Cataracts, Hearing Loss, And Neurodegeneration
  • Congenital Disorder Of Deglycosylation
    • Cdg Iv, Formerly
    • Congenital Disorder Of Glycosylation, Type Iv, Formerly
  • Congenital Disorder Of Glycosylation, Type Ia
    • Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia, Formerly
    • Jaeken Syndrome
    • Phosphomannomutase 2 Deficiency
  • Congenital Disorder of Glycosylation, Type Ic
    • Carbohydrate-Deficient Glycoprotein syndrome, Type I, With Deficient Glycosylationof Dolichol-linked Oligosaccharide
    • Carbohydrate-deficient Glycoprotein Syndrome, Type V
  • Congenital Disorder of Glycosylation, Type Id
    • 0
  • Congenital Disorder Of Glycosylation, Type If
    • Cdg If
  • Congenital Disorder of Glycosylation, Type Ii
    • 0
  • Congenital Disorder Of Glycosylation, Type IIb
    • Cdg Iib|Glucosidase I Deficiency
  • Congenital Disorder Of Glycosylation, Type IIc
    • Cdg Iic|Leukocyte Adhesion Deficiency, Type II|Rambam-Hasharon Syndrome
  • Congenital Disorder Of Glycosylation, Type IIk
    • Cdg Iik
  • Congenital Disorder Of Glycosylation, Type IIm
    • Epileptic Encephalopathy, Early Infantile, 22
  • Congenital Disorder Of Glycosylation, Type Ij
  • Congenital Disorder of Glycosylation, Type Ik
    • 0
  • Congenital Disorder Of Glycosylation, Type In
    • Cdg In
  • Congenital Disorder Of Glycosylation, Type Io
    • CDG Io
    • CDG1(DPM3)
  • Congenital Disorder of Glycosylation, Type Ip
    • 0
  • Congenital Disorder Of Glycosylation, Type Iq
    • Coloboma, Ocular, With Ichthyosis, Brain Malformations, And Endocrine Abnormalities CDG Iq
  • Congenital Disorder Of Glycosylation, Type Ir
  • Congenital Disorder Of Glycosylation, Type Iw
    • Cdg Iw
  • Congenital Disorder Of Glycosylation, Type Ix
    • Cdg Ix
  • Congenital Heart Defects, Multiple Types, 4
  • Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
    • CHILD Syndrome
    • Ichthyosiform Erythroderma, Unilateral, With Ipsilateral Malformations, Especially Absence Deformity Of Limbs
  • Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
    • Clove Syndrome
    • Cloves Syndrome
    • Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, And Skeletal/Spinal Abnormalities
  • Conotruncal Heart Malformations
    • Conotruncal Anomaly Face Syndrome, Included
    • Double-Outlet Right Ventricle, Included
    • Interrupted Aortic Arch, Included
    • Persistent Truncus Arteriosus, Included
    • Truncus Arteriosus Communis, Included
  • Corneal Dystrophy, Fuchs Endothelial, 4
    • Corneal Dystrophy, Fuchs Endothelial, Late-Onset
  • Corneal Dystrophy, Fuchs Endothelial, 6
    • Corneal Dystrophy, Fuchs Endothelial, Late-Onset
  • Corneal Dystrophy, Posterior Polymorphous, 3
  • Cornelia De Lange Syndrome 1
    • Brachmann-De Lange Syndrome
    • De Lange Syndrome
    • Typus Degenerativus Amstelodamensis
  • Cornelia De Lange Syndrome 2
    • Cdls, X-Linked
    • Cornelia De Lange Syndrome, X-Linked
  • Cornelia De Lange Syndrome 3
  • Cornelia De Lange Syndrome 4
  • Cornelia De Lange Syndrome 5
  • Corpus Callosum, Agenesis Of, With Abnormal Genitalia
    • ACC With Abnormal Genitalia
    • Proud Syndrome
  • Corpus Callosum, Agenesis Of, With Mental Retardation, Ocular Coloboma, And Micrognathia
    • Mental Retardation, X-Linked, Syndromic 28
  • Corpus Callosum, Partial Agenesis Of, X-Linked
  • Cortical Dysplasia, Complex, With Other Brain Malformations 2
  • Cortical Dysplasia, Complex, With Other Brain Malformations 3
  • Cortical Dysplasia, Complex, With Other Brain Malformations 5
  • Cortical Dysplasia, Complex, With Other Brain Malformations 7
    • Polymicrogyria, Symmetric Or Asymmetric
  • Cortical Dysplasia, Complex, With Other Brain Malformations 8
    • Polymicrogyria With Optic Nerve Hypoplasia
  • Costello Syndrome
    • Faciocutaneoskeletal Syndrome
    • Fcs Syndrome
  • Cowchock Syndrome
    • Charcot-Marie-Tooth Disease With Deafness and Mental Retardation
    • Charcot-Marie-Tooth Disease, X-Linked Recessive, 4
    • Neuropathy, Axonal Motor-Sensory, With Deafness and Mental Retardation
  • Cowden Syndrome 1
    • Cerebellar Granule Cell Hypertrophy And Megalencephaly, Included
    • Cerebelloparenchymal Disorder VI, Included
    • Cowden Disease
    • Cowden Syndrome
    • Cowden-Like Syndrome, Included
    • Dysplastic Gangliocytoma Of The Cerebellum, Included
    • Lhermitte-Duclos Disease, Included
    • Multiple Hamartoma Syndrome
  • Cranioectodermal Dysplasia 1
    • Levin Syndrome I
    • Sensenbrenner Syndrome
  • Cranioectodermal Dysplasia 2
  • Cranioectodermal Dysplasia 3
  • Cranioectodermal Dysplasia 4
  • Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
    • Cerebrofaciothoracic Dysplasia
  • Craniofacial-Deafness-Hand Syndrome
    • 0
  • Craniofrontonasal Syndrome
    • Craniofrontonasal Dysostosis
    • Craniofrontonasal Dysplasia
  • Craniolenticulosutural Dysplasia
    • Boyadjiev-Jabs Syndrome
  • Craniometaphyseal Dysplasia, Autosomal Dominant
    • Craniometaphyseal Dysplasia, Jackson Type
  • Craniosynostosis 1
  • Craniosynostosis 2
    • Craniosynostosis, Boston-Type
  • Craniosynostosis And Dental Anomalies
    • Kreiborg-Pakistani Syndrome
  • Crigler-Najjar Syndrome, Type I
    • Crigler-Najjar Syndrome
    • Hyperbilirubinemia, Crigler-Najjar Type I
  • Crouzon Syndrome
    • Craniofacial Dysostosis, Type I
    • Crouzon Craniofacial Dysostosis
    • Pseudo-Crouzon Syndrome, Included
  • Crouzon Syndrome With Acanthosis Nigricans
  • Crystallin, Alpha-A
    • Crystallin, Alpha-1
    • Heat-Shock Protein Beta-4
  • Currarino Syndrome
    • Currarino Triad
    • Sacral Agenesis Syndrome, Included
    • Sacral Agenesis, Hereditary, With Presacral Mass, Anterior Meningocele, And/or Teratoma, And Anorectal Malformation, Included
    • Scra1, Included
  • Cutis Laxa, Autosomal Dominant 1
  • Cutis Laxa, Autosomal Recessive, Type IIB
    • Cutis Laxa With Progeroid Features
  • Cutis Laxa, Autosomal Recessive, Type IIIA
    • Cutis Laxa, Corneal Clouding, And Mental Retardation
    • De Barsy Syndrome A
    • Progeroid Syndrome Of De Barsy
  • Cystinosis, Adult Nonnephropathic
    • Cystinosis, Benign Nonnephropathic
    • Cystinosis, Ocular Nonnephropathic
  • Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
    • Cystinosis, Intermediate
  • Cystinosis, Nephropathic
    • Cystinosin, Defect Of
    • Cystinosis, Infantile Nephropathic, Included
    • Lysosomal Cystine Transport Protein, Defect Of
  • D-Bifunctional Protein Deficiency
    • 17-Beta-Hydroxysteroid Dehydrogenase IV Deficiency
    • DBP Deficiency
    • PBFE Deficiency
    • Peroxisomal Bifunctional Enzyme Deficiency
  • Danon Disease
    • Antopol Disease
    • Glycogen Storage Disease IIb
    • Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly
    • Pseudoglycogenosis II
    • Vacuolar Cardiomyopathy And Myopathy, X-Linked
  • De Sanctis-Cacchione Syndrome
  • Deafness, Autosomal Dominant 10
  • Deafness, Autosomal Dominant 12
    • Deafness, Autosomal Dominant 8
  • Deafness, Autosomal Dominant 13
  • Deafness, Autosomal Dominant 17
    • Cochleosaccular Degeneration, Included
  • Deafness, Autosomal Dominant 23
  • Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
    • Dfna39/Dentinogenesis Imperfecta 1 Syndrome
    • Dfna39/Dgi1 Syndrome
    • Dgi1/Dfna39 Syndrome
  • Deafness, Autosomal Dominant 5
  • Deafness, Autosomal Recessive 12
  • Deafness, Autosomal Recessive 1A
    • Gap Junction Protein, Beta 2, 26kda
  • Deafness, Autosomal Recessive 2
    • Neurosensory Nonsyndromic Recessive Deafness 2
  • Deafness, Autosomal Recessive 21
  • Deafness, Autosomal Recessive 22
  • Deafness, Autosomal Recessive 29
  • Deafness, Autosomal Recessive 3
    • Neurosensory Nonsyndromic Recessive Deafness 3
  • Deafness, Autosomal Recessive 35
  • Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
  • Deafness, Autosomal Recessive 42
  • Deafness, Autosomal Recessive 48
  • Deafness, Autosomal Recessive 49
  • Deafness, Autosomal Recessive 53
  • Deafness, Autosomal Recessive 59
  • Deafness, Autosomal Recessive 63
  • Deafness, Autosomal Recessive 67
  • Deafness, Autosomal Recessive 70
  • Deafness, Autosomal Recessive 74
  • Deafness, Autosomal Recessive 77
  • Deafness, Autosomal Recessive 84A
    • Deafness, Autosomal Recessive 84
    • Deafness, Autosomal Recessive 84A, With Vestibular Dysfunction
  • Deafness, Autosomal Recessive 84B
  • Deafness, Autosomal Recessive 89
  • Deafness, Autosomal Recessive 9
    • Neurosensory Nonsyndromic Recessive Deafness 9
  • Deafness, Autosomal Recessive 91
  • Deafness, Autosomal Recessive 93
  • Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
    • Deafness, Congenital, With Labyrinthine Aplasia, Microtia, And Microdontia|Deafness With Lamm
  • Deafness, Dystonia, And Cerebral Hypomyelination
    • Contiguous ABCD1/DXS1375E Deletion sydrome, included
  • Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
    • Brachydactyly Due To Absence Of Distal Phalanges
    • Digitorenocerebral Syndrome
    • Door Syndrome
    • Drc Syndrome
    • Eronen Syndrome
  • Dentinogenesis Imperfecta 1
    • Dentinogenesis Imperfecta Without Osteogenesis Imperfecta
    • Dentinogenesis Imperfecta, Shields Type II
    • Dgi-II|Capdepont Teeth
    • Opalescent Dentin
    • Opalescent Teeth Without Osteogenesis Imperfecta
  • Denys-Drash Syndrome
    • Drash Syndrome
    • Nephropathy, Wilms Tumor, And Genital Anomalies
    • Wilms Tumor And Pseudo- Or True Hermaphroditism
  • Desanto-Shinawi syndrome
    • Developmental Delay, Behavioral Abnormalities, Facial Dysmorphism, And Ocular Abnormalities
  • Desbuquois Dysplasia 2
  • Desmosterolosis
  • Developmental Disorders 1308 Gene Exome Panel
  • Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
  • Diabetes Mellitus, Transient Neonatal, 1
    • Diabetes Mellitus, Transient Neonatal
  • Diabetes Mellitus, Transient Neonatal, 3
  • Diaphanospondylodysostosis
    • Vertebral Ossification, Defect In, With Nephrogenic Rests
  • Diaphragmatic Hernia 3
  • Diarrhea 2, With Microvillus Atrophy
    • Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities
    • Davidson Disease
    • Intractable Diarrhea Of Infancy
    • Microvillus Atrophy, Congenital
    • Microvillus Inclusion Disease
  • Diarrhea 6
  • Diarrhea 7
    • 0
  • Diastrophic Dysplasia
    • Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant, Included
  • DiGeorge Syndrome
    • Chromosome 22q Deletion Syndrome
    • Hypoplasia of Thymus and Parathyroids
    • Third and Fourth Pharyngeal Pouch Syndrome
  • Discs Large, Drosophila, Homolog Of, 3
    • Neuroendocrine Dlg
    • Synapse-Associated Protein 102
  • Donnai-Barrow Syndrome
    • Dbs/Foar Syndrome
    • Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria
    • Faciooculoacousticorenal Syndrome
  • Duane-Radial Ray Syndrome
    • Acrorenoocular Syndrome
    • Dr Syndrome
    • Duane Anomaly With Radial Ray Abnormalities And Deafness
    • Okihiro Syndrome
  • Dyggve-Melchior-Clausen Disease
  • Dynein, Cytoplasmic 1, Heavy Chain 1
    • Dnch1|Dynein, Cytoplasmic-Like
    • Dnchc1
    • Dynein Heavy Polypeptide, Cytoplasmic
  • Dyschromatosis Symmetrica Hereditaria
    • Dyschromatosis Symmetrica Hereditaria 1
    • Reticulate Acropigmentation Of Dohi
    • Symmetric Dyschromatosis Of The Extremities
  • Dyskeratosis Congenita, Autosomal Recessive, 1
  • Dyskeratosis Congenita, Autosomal Recessive, 3
  • Dyskeratosis Congenita, Autosomal Recessive, 5
  • Dyskeratosis Congenita, X-Linked
    • Zinsser-Cole-Engman Syndrome
  • Dyssegmental Dysplasia, Silverman-Handmaker Type
    • Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type
    • Dyssegmental Dwarfism, Silverman-Handmaker Type
  • Dystonia 12
    • Dystonia-Parkinsonism, Rapid-Onset
  • Dystonia 6, Torsion
    • Torsion Dystonia, Adult-Onset, Mixed Type
  • Dystonia, Dopa-Responsive
    • Dopa-Responsive Dystonia, Autosomal Dominant
    • Dystonia 5
    • Dystonia, Dopa-Responsive, Autosomal Dominant
    • Dystonia, Progressive, With Diurnal Variation
    • Dystonia-Parkinsonism With Diurnal Fluctuation
    • Segawa Syndrome, Autosomal Dominant
  • Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
    • Sepiapterin Reductase Deficiency
    • SPR Deficiency
  • Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
    • Christ-Siemens-Touraine Syndrome
    • CST Syndrome
    • Ectodermal Dysplasia 1
    • Ectodermal Dysplasia 1, Anhidrotic
    • Ectodermal Dysplasia, Anhidrotic
    • Ectodermal Dysplasia, Hypohidrotic
    • Ectodermal Dysplasia, Hypohidrotic, 1
    • Ectodermal Dysplasia, Hypohidrotic, X-Linked
  • Ectodermal Dysplasia 9, Hair/Nail Type
  • Ectodermal Dysplasia, Anhidrotic, With Immunodeficiency, Osteopetrosis, And Lymphedema
  • Ectodermal Dysplasia-Syndactyly Syndrome 1
  • Ectodermal Dysplasia/Short Stature Syndrome
  • Ectopia Lentis 1, Isolated, Autosomal Dominant
    • Ectopia Lentis, Familial
    • Ectopia Lentis, Isolated
    • Ectopia Lentis, Isolated, Autosomal Dominant
  • Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
    • Eec Syndrome 3
  • Ehlers-Danlos Syndrome With Progressive Kyphoscoliosis, Myopathy, And Hearing Loss
  • Ehlers-Danlos Syndrome, Hypermobility Type
    • Benign Hypermobility Syndrome
    • Ehlers-Danlos Syndrome, Type III
  • Ehlers-Danlos Syndrome, Musculocontractural Type 1
    • Adducted Thumb, Clubfoot, And Progressive Joint And Skin Laxity Syndrome
    • Adducted Thumb-Clubfoot Syndrome
    • Arthrogryposis, Distal, With Peculiar Facies And Hydronephrosis
    • Dundar Syndrome
    • Ehlers-Danlos Syndrome, Type VIb
  • Ehlers-Danlos Syndrome, Progeroid Type, 2
  • Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant
    • Eds IV
    • Ehlers-Danlos Syndrome, Arterial Type
    • Ehlers-Danlos Syndrome, Ecchymotic Type
    • Ehlers-Danlos Syndrome, Sack-Barabas Type
    • Ehlers-Danlos Syndrome, Vascular Type
  • Ehlers-Danlos Syndrome, Type VI
    • Eds VI
    • Ehlers-Danlos Syndrome, Kyphoscoliotic Type
    • Ehlers-Danlos Syndrome, Ocular-Scoliotic Type
    • Ehlers-Danlos Syndrome, Type VIa, Formerly
  • Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant
    • Arthrochalasis Multiplex Congenita EDS VII, Mutant Procollagen Type
    • EDS VIIB, Included
    • EDS7B, Included
    • Ehlers-Danlos Syndrome, Arthrochalasia Type Eds VIIA
  • Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive
    • Dermatosparaxis
    • Ehlers-Danlos Syndrome, Dermatosparaxis Type
  • Eiken Syndrome
    • Bone Modeling Defect Of Hands And Feet
    • Eiken Skeletal Dysplasia
  • Elejalde Disease
    • Neuroectodermal Melanolysosomal Disease
  • Ellis-Van Creveld Syndrome
    • Chondroectodermal Dysplasia
    • Mesoectodermal Dysplasia
  • Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
    • Emery-Dreifuss Muscular Dystrophy 2
    • Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant
    • Hauptmann-Thannhauser Muscular Dystrophy
    • Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant
    • Scapuloilioperoneal Atrophy With Cardiopathy
  • Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
    • Emery-Dreifuss Muscular Dystrophy 4 With Variable Features
  • Emery-Dreifuss Muscular Dystrophy 6, X-Linked, Included
  • Encephalopathy, Acute, Infection-Induced, Susceptibility to, 3
    • Encephalopathy, Acute Necrotizing, Susceptibility to
  • Encephalopathy, Ethylmalonic
  • Encephalopathy, Neonatal Severe, Due To MECP2 Mutations
  • Endosteal Hyperostosis, Autosomal Dominant
    • Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus
    • Osteosclerosis, Autosomal Dominant
  • Epidermolysis Bullosa Junctionalis With Pyloric Atresia
    • Aplasia Cutis Congenita With Gastrointestinal Atresia
    • Carmi Syndrome
    • Eb-Pa-Acc
    • Epidermolysis Bullosa, Junctional, With Pyloric Atresia
    • Epidermolysis Bullosa, Junctional, With Pyloric Atresia And Aplasia Cutis Congenita
    • Jeb-Pa
    • Junctional Epidermolysis Bullosa With Pyloric Atresia
  • Epidermolysis Bullosa Simplex With Pyloric Atresia
    • EBS With Pyloric Atresia
  • Epidermolysis Bullosa, Nonspecific, Autosomal Recessive
  • Epilepsy, Childhood Absence, Susceptibility To, 5
  • Epilepsy, Focal, With Speech Disorder And With Or Without Mental Retardation
    • Aphasia, Acquired, With Epilepsy
  • Epilepsy, Myoclonic, Familial Adult, 2
    • Benign Adult Familial Myoclonic Epilepsy 2
    • Cortical Myoclonic Tremor With Epilepsy, Familial, 2
    • Cortical Myoclonus and Epilepsy, Autosomal Dominant
  • Epilepsy, Nocturnal Frontal Lobe, 3
  • Epilepsy, Pyridoxine-Dependent
    • AASA Dehydrogenase Deficiency
    • Pyridoxine Dependency With Seizures
    • Pyridoxine-Dependent Epilepsy
  • Epilepsy, X-Linked, With Variable Learning Disabilities And Behavior Disorders
  • Epileptic Encephalopathy, Childhood-Onset
  • Epileptic Encephalopathy, Early Infantile, 1
    • Iinfantile Epileptic-Dyskinetic Encephalopathy
    • Infantile Spasm Syndrome, X-Linked 1
    • Ohtahara Syndrome, X-Linked
    • West Syndrome, X-Linked
  • Epileptic Encephalopathy, Early Infantile, 12
  • Epileptic Encephalopathy, Early Infantile, 13
  • Epileptic Encephalopathy, Early Infantile, 17
    • 0
  • Epileptic Encephalopathy, Early Infantile, 18
    • 0
  • Epileptic Encephalopathy, Early Infantile, 2
    • Infantile Spasm Syndrome, X-Linked 2
    • Rett Syndrome, Atypical, Cdkl5-Related
    • Rett Syndrome, Variant, With Infantile Spasms
  • Epileptic Encephalopathy, Early Infantile, 23
  • Epileptic Encephalopathy, Early Infantile, 24
  • Epileptic Encephalopathy, Early Infantile, 25
  • Epileptic Encephalopathy, Early Infantile, 27
  • Epileptic Encephalopathy, Early Infantile, 3
  • Epileptic Encephalopathy, Early Infantile, 31
    • 0
  • Epileptic Encephalopathy, Early Infantile, 33
    • 0
  • Epileptic Encephalopathy, Early Infantile, 36
    • Congenital Disorder Of Glycosylation, Type Is
  • Epileptic Encephalopathy, Early Infantile, 4
  • Epileptic Encephalopathy, Early Infantile, 43
    • 0
  • Epileptic Encephalopathy, Early Infantile, 5
  • Epileptic Encephalopathy, Early Infantile, 7
  • Epileptic Encephalopathy, Early Infantile, 8
    • Hyperekplexia And Epilepsy
  • Epileptic Encephalopathy, Early Infantile, 9
    • Epilepsy, Female-Restricted, With Mental Retardation
    • Juberg-Hellman Syndrome
  • Epiphyseal Dysplasia, Multiple, 1
  • Epiphyseal Dysplasia, Multiple, 2
  • Epiphyseal Dysplasia, Multiple, 3
    • Epiphyseal Dysplasia, Multiple, 3, With Myopathy, Included
  • Epiphyseal Dysplasia, Multiple, 4
    • Multiple Epiphyseal Dysplasia With Bilayered Patellae
    • Multiple Epiphyseal Dysplasia With Clubfoot
    • Multiple Epiphyseal Dysplasia, Autosomal Recessive
  • Epiphyseal Dysplasia, Multiple, 5
    • Microepiphyseal Dysplasia, Bilateral Hereditary
    • Multiple Epiphyseal Dysplasia, Matn3-Related
  • Epiphyseal Dysplasia, Multiple, 6
  • Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
    • Iddm-Med Syndrome
    • Med-Iddm Syndrome
    • Wolcott-Rallison Syndrome
  • Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
  • Epstein Syndrome
    • Macrothrombocytopenia, Nephritis, And Deafness
  • Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper IgE
    • Severe Dermatitis, Multiple Allergies, and Metabolic Wasting Syndrome
  • Exostoses, Multiple, Type II
  • Exudative Vitreoretinopathy 4
  • F-Box Only Protein 25
    • Fbx25
  • Facial Clefting, Oblique, 1
    • Oculomaxillofacial Dysplasia With Oblique Facial Clefts
  • Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs
    • Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
    • Traboulsi Syndrome
  • Facial Paresis, Hereditary Congenital, 3
  • Facioscapulohumeral Muscular Dystrophy 2
    • Facioscapulohumeral Muscular Dystrophy 2, Digenic
    • FSHD2, Digenic
    • Muscular Dystrophy, Facioscapulohumeral, Type 1B
    • Muscular Dystrophy, Facioscapulohumeral, Type 2
  • Failure Of Tooth Eruption, Primary
    • Dental Noneruption
    • Posterior Openbite Malocclusion, Familial
    • Primary Failure Of Eruption, Nonsyndromic
    • Primary Retention Of Teeth
    • Unerupted Second Primary Molar
  • Familial Cold Autoinflammatory Syndrome 3
    • Antibody Deficiency And Immune Dysregulation, Plcg2-Associated|Familial Atypical Cold Urticaria
  • Fanconi Anemia, Complementation Group A
    • Fanconi Anaemia
    • Fanconi Anaemia, Complementation Group A
    • Fanconi Anemia
  • Fanconi Anemia, Complementation Group B
    • Fanconi Anaemia, Complementation Group B
    • Fanconi Pancytopenia
  • Fanconi Anemia, Complementation Group C
    • Fanconi Anaemia, Complementation Group C
    • Fanconi Pancytopenia, Type 3
  • Fanconi Anemia, Complementation Group D1
    • Fanconi Anaemia, Complementation Group D1
  • Fanconi Anemia, Complementation Group D2
    • Fanconi Anaemia, Complementation Group D2
    • Fanconi Anemia, Complementation Group D
    • Fanconi Pancytopenia, Type 4
  • Fanconi Anemia, Complementation Group E
    • Fanconi Anaemia, Complementation Group E
  • Fanconi Anemia, Complementation Group F
    • Fanconi Anaemia, Complementation Group F
  • Fanconi Anemia, Complementation Group G
    • Fanconi Anaemia, Complementation Group G
  • Fanconi Anemia, Complementation Group I
    • Fanconi Anaemia, Complementation Group I
  • Fanconi Anemia, Complementation Group J
    • Fanconi Anaemia, Complementation Group J
  • Fanconi Anemia, Complementation Group L
    • Fanconi Anaemia, Complementation Group L
  • Fanconi Anemia, Complementation Group M
    • Fanconi Anaemia, Complementation Group M
  • Fanconi Anemia, Complementation Group N
    • Fanconi Anaemia, Complementation Group N
  • Fanconi Anemia, Complementation Group O
    • Fanconi Anaemia, Complementation Group O
  • Fanconi Anemia, Complementation Group P
    • Fanconi Anaemia, Complementation Group P
  • Fanconi Anemia, Complementation Group Q
  • Fanconi Renotubular Syndrome 4, with Maturity-Onset Diabetes Of The Young
    • FRTS4 with MODY
  • Fanconi-Bickel Syndrome
    • Fanconi Syndrome With Intestinal Malabsorption And Galactose Intolerance
    • Glycogen Storage Disease XI
    • Glycogenosis, Fanconi Type
    • Hepatic Glycogenosis With Amino Aciduria And Glucosuria
    • Hepatic Glycogenosis With Fanconi Nephropathy
    • Hepatorenal Glycogenosis With Renal Fanconi Syndrome
    • Pseudo-Phlorizin Diabetes
  • Farber Lipogranulomatosis
    • Ac Deficiency
    • Acid Ceramidase Deficiency
    • Ceramidase Deficiency
    • Farber Disease
    • N-Laurylsphingosine Deacylase Deficiency
  • Fechtner Syndrome
    • Alport Syndrome With Macrothrombocytopenia
    • Macrothrombocytopenia, Nephritis, Deafness, And Leukocyte Inclusions
  • Feingold Syndrome 1
    • Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus Or Duodenum
    • Microcephaly And Digital Abnormalities With Normal Intelligence
    • Microcephaly, Mental Retardation, And Tracheoesophageal Fistula Syndrome
    • Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome
    • MMT Syndrome
    • Oculodigitoesophagoduodenal Syndrome
    • ODED Syndrome
  • FG Syndrome 2
  • FG Syndrome 4
    • Mental Retardation, X-Linked, With Or Without Nystagmus, Included
  • Fibrodysplasia Ossificans Progressiva
  • Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
    • Fuhrmann Syndrome
  • Fibular Hypoplasia And Complex Brachydactyly
    • Du Pan Syndrome
  • Filippi Syndrome
    • Scott Craniodigital Syndrome With Mental Retardation
    • Syndactyly, Type I, With Microcephaly And Mental Retardation
  • Floating-Harbor Syndrome
  • Focal Dermal Hypoplasia
    • Fodh|Goltz Syndrome
    • Goltz-Gorlin Syndrome
  • Folate Malabsorption, Hereditary
  • Foveal Hypoplasia 1
    • Foveal Hypoplasia 1 With Or Without Anterior Segment Anomalies And/Or Cataract
  • Fragile X Syndrome
    • Fragile Site, Folic Acid Type, Rare, Fra(x)(q27.3), Included
    • Fragile X Mental Retardation Protein
    • Fragile X Mental Retardation Syndrome, Included
    • Fragile X Syndrome, Included
    • Fragile X Tremor/ataxia Syndrome, Included
    • Marker X Syndrome, Included
    • Martin-Bell Syndrome, Included
    • Mental Retardation, X-Linked, Associated With Marxq28, Included
    • X-Linked Mental Retardation And Macroorchidism, Included
  • Fragile X Tremor/Ataxia Syndrome
    • 0
  • Frank-Ter Haar Syndrome
    • Borrone Dermatocardioskeletal Syndrome
    • Melnick-Needles Syndrome, Autosomal Recessive, Formerly
    • Ter Haar Syndrome
  • Fraser Syndrome
    • Cryptophthalmos With Other Malformations
    • Cryptophthalmos-Syndactyly Syndrome, Included
  • Frasier Syndrome
  • Frontometaphyseal Dysplasia
  • Frontonasal Dysplasia 1
    • Frontonasal Dysplasia
    • Frontonasal Malformation
    • Frontorhiny
    • Median Facial Cleft Syndrome
  • Frontonasal Dysplasia 2
  • Frontonasal Dysplasia 3
  • Fructose Intolerance, Hereditary
    • Aldob Deficiency
    • Aldolase 2, Included
    • Aldolase B Deficiency
    • Aldolase B, Fructose-Bisphosphate, Included
    • Fructosaemia
    • Fructose-1,6-Bisphosphate Aldolase B Deficiency
    • Fructose-1-Phosphate Aldolase Deficiency
    • Fructosemia
  • Fructose-1,6-Bisphosphatase Deficiency
  • Fucosidosis
    • Alpha-L-Fucosidase Deficiency
  • Fumarase Deficiency
    • Fumaric Aciduria
  • Galactokinase Deficiency
    • Galactosemia II
    • GALK Deficiency
  • Galactose Epimerase Deficiency
    • Galactosemia III
    • Gale Deficiency
    • Udp-Galactose-4-Epimerase Deficiency
  • Galactosemia
    • Galactosaemia
    • Galactose-1-Phosphate Uridylyltransferase Deficiency
    • Galactosemia, Classic
    • Galt Deficiency
  • Galactosialidosis
    • Cathepsin A Deficiency
    • Goldberg Syndrome
    • Lysosomal Protective Protein Deficiency
    • Neuraminidase Deficiency With Beta-Galactosidase Deficiency
    • Neuraminidase/Beta-Galactosidase Expression
    • PPCA Deficiency
    • Protective Protein/Cathepsin A Deficiency
  • GAPO Syndrome
    • Growth Retardation, Alopecia, Pseudoanodontia, and Optic Atrophy
  • Gastrointestinal Defects And Immunodeficiency Syndrome
    • Familial Intestinal Polyatresia Syndrome
    • Intestinal Atresia, Multiple
    • Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency
  • Gastrointestinal Stromal Tumor
  • Gaucher Disease, Perinatal Lethal
  • Gaucher Disease, Type I
    • Acid Beta-Glucosidase Deficiency
    • Gaucher Disease, Noncerebral Juvenile
    • Gba Deficiency
    • Gd I
    • Glucocerebrosidase Deficiency
  • Gaucher Disease, Type II
    • Gaucher Disease, Acute Neuronopathic Type
    • Gaucher Disease, Infantile Cerebral
    • Gd II
  • Gaucher Disease, Type III
    • Gaucher Disease, Chronic Neuronopathic Type
    • Gaucher Disease, Juvenile And Adult, Cerebral
    • Gaucher Disease, Norrbottnian Type, Included
    • Gaucher Disease, Subacute Neuronopathic Type
    • Gd III
    • Norrbottnian Gaucher Disease, Included
  • Gaucher Disease, Type IIIC
    • 0
  • Gaze Palsy, Familial Horizontal, With Progressive Scoliosis
    • Ophthalmoplegia, Progressive External, And Scoliosis, Included
  • GDP Dissociation Inhibitor 1
    • Oligophrenin 2
    • Rab Gdi-Alpha
    • Rab Gdp-Dissociation Inhibitor, Alpha
    • Rhogdi
  • Generalized Epilepsy With Febrile Seizures Plus, Type 1
    • GEFS+, Type 1
  • Genitopatellar Syndrome
    • Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, and Mental Retardation
  • Ghosal Hematodiaphyseal Dysplasia
    • Ghosal Syndrome
  • Gillespie Syndrome
    • Aniridia, Cerebellar Ataxia, And Mental Retardation
  • Glass Syndrome
    • Chromosome 2q32-q33 Deletion Syndrome
  • Glaucoma 1, Open Angle, A
    • Glaucoma 1, Open Angle, L, Included
    • Glaucoma, Primary Open Angle, Juvenile-Onset, 1
    • Primary Open Angle Glaucome
  • Glaucoma 3, Primary Congenital, A
    • Buphthalmos
    • Glaucoma, Congenital
  • Glaucoma 3, Primary Congenital, D
  • Glomuvenous Malformations
    • Glomangiomas, Multiple
    • Glomus Tumors, Multiple
    • Venous Malformations With Glomus Cells
  • Glucocorticoid Deficiency 1
    • ACTH Resistance
    • Adrenal Unresponsiveness To ACTH
    • Familial Glucocorticoid Deficiency 1
  • GLUT1 Deficiency Syndrome 1
    • Glucose Transport Defect, Blood-Brain Barrier
  • GLUT1 Deficiency Syndrome 2
    • Dystonia 18
    • Paroxysmal Exercise-Induced Dyskinesia With Or Without Epilepsy And/Or Hemolytic Anaemia
    • Paroxysmal Exercise-Induced Dyskinesia With Or Without Epilepsy And/Or Hemolytic Anemia
    • Paroxysmal Exertion-Induced Dystonia With Or Without Epilepsy And/Or Hemolytic Anaemia
    • Paroxysmal Exertion-Induced Dystonia With Or Without Epilepsy And/Or Hemolytic Anemia
    • PED With Or Without Epilepsy And/Or Hemolytic Anaemia
    • PED With Or Without Epilepsy And/Or Hemolytic Anemia
  • Glutamate Formiminotransferase Deficiency
    • Figlu-Uria
    • Formiminoglutamic Aciduria
    • Formiminotransferase Deficiency
  • Glutamine Deficiency, Congenital
    • Glutamine Synthase Deficiency, Congenital Systemic
  • Glutaric Acidemia I
    • Glutaricacidemia I
    • Glutaricaciduria I
    • Glutaryl-CoA Dehydrogenase Deficiency
  • Glycine Encephalopathy
    • Hyperglycinemia, Nonketotic
    • Hyperglycinemia, Transient Neonatal, Included
  • Glycogen Storage Disease II
    • Acid Alpha-Glucosidase Deficiency
    • Acid Maltase Deficiency
    • Alpha-1,4-Glucosidase Deficiency
    • Cardiomegalia Glycogenica Diffusa
    • Gaa Deficiency
    • Glycogenosis, Generalized, Cardiac Form
    • GSD II
    • Pompe Disease
  • Glycogen Storage Disease III
    • Agl Deficiency
    • Amylo-1,6-Glucosidase Deficiency
    • Amylo-1,6-Glucosidase, 4-Alpha-Glucanotransferase, Included
    • Cori Disease
    • Forbes Disease
    • Gde Deficiency
    • Glycogen Debrancher Deficiency
    • Glycogen Debrancher Enzyme, Included
    • Glycogen Debranching Deficiency
    • Limit Dextrinosis
  • Glycogen Storage Disease IV
    • Amylopectinosis
    • Andersen Disease
    • Brancher Deficiency
    • Cirrhosis, Familial, With Deposition Of Abnormal Glycogen
    • Gbe1 Deficiency
    • Glycogen Branching Enzyme Deficiency
    • Glycogenosis IV
  • Glycogen Storage Disease XII
    • Aldoa Deficiency
    • Aldolase A Deficiency
    • Aldolase Deficiency, Red Cell
    • Red Cell Aldolase Deficiency
  • GM1-Gangliosidosis, Type I
    • Beta-Galactosidase-1 Deficiency
    • Gangliosidosis, Generalized GM1, Infantile Form
    • Gangliosidosis, Generalized GM1, Type 1
    • Gangliosidosis, Generalized GM1, Type I
    • GLB1 Deficiency
  • GM1-Gangliosidosis, Type II
    • Gangliosidosis, Generalized GM1, Juvenile Type
    • Gangliosidosis, Generalized GM1, Type 2
    • Gangliosidosis, Generalized GM1, Type II
  • GM1-Gangliosidosis, Type III
    • Gangliosidosis, Generalized GM1, Adult Type
    • Gangliosidosis, Generalized GM1, Chronic Type
    • Gangliosidosis, Generalized GM1, Type 3
    • Gangliosidosis, Generalized GM1, Type III
  • GM2-Gangliosidosis, AB Variant
    • Ab Variant Gm2-Gangliosidosis
    • Gm2 Activator Deficiency
    • Hexosaminidase Activator Deficiency
    • Tay-Sachs Disease, Ab Variant
  • Goldberg-Shprintzen Syndrome
    • Goldberg-Shprintzen Megacolon Syndrome
  • GRACILE Syndrome
    • Fellman Syndrome
    • Finnish Lethal Neonatal Metabolic Syndrome
    • Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, And Early Death
    • Lactic Acidosis, Finnish, With Hepatic Hemosiderosis
  • Greenberg Dysplasia
    • Chondrodystrophy, Hydropic And Prenatally Lethal Type
    • Hem Skeletal Dysplasia
    • Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia
    • Moth-Eaten Skeletal Dysplasia
  • Griscelli Syndrome, Type 3
  • Growth Retardation, Developmental Delay, And Facial Dysmorphism
  • Hajdu-Cheney Syndrome
    • Acroosteolysis With Osteoporosis And Changes In Skull And Mandible
    • Arthrodentoosteodysplasia
    • Cheney Syndrome
    • Serpentine Fibula-Polycystic Kidney Syndrome
  • Hallermann-Streiff Syndrome
    • Francois Dyscephalic Syndrome
  • Hamamy Syndrome
    • Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility
  • Hawkinsinuria
  • Heart Defects, Congenital, And Other Congenital Anomalies
    • Pancreatic Agenesis And Congenital Heart Defects
    • Pancreatic Hypoplasia, Congenital, With Diabetes Mellitus And Congenital Heart Disease
  • Heart-Hand Syndrome, Slovenian Type
  • Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
  • Hennekam Lymphangiectasia-Lymphedema Syndrome 1
    • Lymphatic Dysplasia, Generalized
  • Hermansky-Pudlak Syndrome 1
    • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
  • Hermansky-Pudlak Syndrome 9
  • Heterotaxy, Visceral, 2, Autosomal
  • Heterotaxy, Visceral, 5, Autosomal
  • Holocarboxylase Synthetase Deficiency
  • Holoprosencephaly 11
  • Holoprosencephaly 2
  • Holoprosencephaly 3
  • Holoprosencephaly 4
  • Holoprosencephaly 5
  • Holoprosencephaly 7
  • Holoprosencephaly 9
    • Holoprosencephaly With Microphthalmia And First Branchial Arch Anomalies
    • Pituitary Anomalies With Holoprosencephaly-Like Features
  • Holt-Oram Syndrome
    • Atriodigital Dysplasia
    • Heart-Hand Syndrome
    • HOS1
  • Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
    • Cbs Deficiency
    • Cystathionine Beta-Synthase Deficiency
    • Homocystinuria
    • Homocystinuria With Or Without Response To Pyridoxine
  • Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
    • Methylenetetrahydrofolate Reductase Deficiency
    • MTHFR Deficiency
  • Homocystinuria-Megaloblastic Anemia, cblE Complementation Type
    • Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, Cble Complementation Type
    • Methylcobalamin Deficiency, Cble Type
    • Vitamin B12-Responsive Homocystinuria, Cble Type
  • Homocystinuria-Megaloblastic Anemia, cblG Complementation Type
    • Homocystinuria-Megaloblastic Anaemia Due To Defect In Cobalamin Metabolism, cblG Complementation Type
    • Homocystinuria-Megaloblastic Anaemia, cblG Complementation Type
    • Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, cblG Complementation Type
    • Methionine Synthase Deficiency
    • Methylcobalamin Deficiency, cblG Type
  • HSD10 Mitochondrial Disease
    • 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency
    • 2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency
    • 3-Hydroxyacyl-Coa Dehydrogenase II Deficiency
    • Hsd10 Deficiency
    • Hsd17b10 Deficiency
    • Mhbd Deficiency
  • Hutchinson-Gilford Progeria Syndrome
    • Myopathy, Early-Onset, With Progeroid Features, Included
    • Progeria
  • Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
    • Aqueductal Stenosis, X-Linked
    • Hsas1
    • Hydrocephalus, X-Linked
  • Hydrolethalus Syndrome 1
  • Hyper-IgE Recurrent Infection Syndrome, Autosomal Recessive
    • HIES, Autosomal Recessive
    • Hyper-IgE Syndrome, Autosomal Recessive
  • Hyperekplexia, Hereditary 1
    • Exaggerated Startle Reaction
    • KOK Disease
    • Startle Disease, Familial
    • Startle Reaction, Exaggerated
    • Stiff-Baby Syndrome
    • Stiff-Man Syndrome, Congenital
    • Stiff-Person Syndrome, Congenital
  • Hyperferritinemia With Or Without Cataract
    • Hyperferritinemia, Hereditary, With Congenital Cataracts
    • Hyperferritinemia-Cataract Syndrome
  • Hyperinsulinemic Hypoglycemia, Familial, 2
    • Hyperinsulinemic Hypoglycemia Due To Focal Adenomatous Hyperplasia
    • Hyperinsulinemic Hypoglycemia, Persistent
    • Hyperinsulinism, Congenitali
    • Hyperinsulinism, Familial
    • Hyperinsulinism, Neonatal
    • Nesidioblastosis
    • Persistent Hyperinsulinemic Hypoglycemia Of Infancy
  • Hyperinsulinemic Hypoglycemia, Familial, 6
    • Hyperinsulinism-Hyperammonemia Syndrome
  • Hyperkalemic Periodic Paralysis
    • Adynamia Episodica Hereditaria With Or Without Myotonia
    • Gamstorp Disease
    • Hyperpp
  • Hyperlysinemia, Type I
    • Alpha-Aminoadipic Semialdehyde Synthase Deficiency
    • L-Lysine:Nad-Oxido-Reductase Deficiency
    • Lysine Intolerance
    • Lysine:Alpha-Ketoglutarate Reductase Deficiency
  • Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
    • HHH Syndrome
    • Ornithine Translocase Deficiency
  • Hyperoxaluria, Primary, Type I
    • Alanine-Glyoxylate Aminotransferase Deficiency
    • Glycolic Aciduria
    • Hepatic AGT Deficiency
    • Oxalosis I
    • Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency
    • Serine:Pyruvate Aminotransferase Deficiency
  • Hyperphenylalaninemia, BH4-Deficient, A
    • 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
    • Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency
    • Pts Deficiency
  • Hyperphenylalaninemia, BH4-Deficient, B
    • GTP Cyclohydrolase I Deficiency
    • Guanosine Triphosphate Cyclohydrolase I Deficiency
    • Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To GTP
  • Hyperphenylalaninemia, BH4-Deficient, C
    • Dhpr Deficiency
    • Dihydropteridine Reductase Deficiency
    • Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Dhpr Deficiency
    • Qdpr Deficiency
    • Quinoid Dihydropteridine Reductase Deficiency
  • Hyperphenylalaninemia, BH4-Deficient, D
    • Cadh Deficiency|Pcbd Deficiency
    • Hyperphenylalaninemia With Primapterinuria
    • Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency
  • Hyperphosphatasia With Mental Retardation Syndrome 3
    • Glycosylphoshatidylinositol Biosynthesis Defect 8
    • Mental Retardation, Autosomal Recessive 17
    • Mental Retardation, Autosomal Recessive 21
  • Hyperphosphatasia With Mental Retardation Syndrome 4
    • Glycosylphosphatidylinositol Biosynthesis Defect 10
  • Hyperthyroidism, Familial Gestational
  • Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
    • Pachydermoperiostosis, Autosomal Recessive
    • Pdp, Autosomal Recessive
    • PHO, Autosomal Recessive
    • Touraine-Solente-Gole Syndrome
  • Hypochondroplasia
  • Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
    • 0
  • Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
  • Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
  • Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
    • 0
  • Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
    • Hypogonadism, Isolated Hypogonadotropic
    • Idiopathic Hypogonadotropic Hypogonadism
  • Hypokalemic Periodic Paralysis, Type 2
  • Hypomagnesemia 5, Renal, With Ocular Involvement
    • Fhhnc With Severe Ocular Involvement
    • Hypomagnesemia, Familial, With Hypercalciuria, Nephrocalcinosis, And Severe Ocular Involvement
    • Hypomagnesemia, Renal, With Ocular Involvement
    • Macular Coloboma, Bilateral, With Hypercalciuria
  • Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
    • Aspartyl-Trna Synthetase Deficiency
  • Hypoparathyroidism, Familial Isolated
    • Hypercalciuric Hypocalcemia, Familial
    • Hypocalcemia, Autosomal Dominant
    • Hypocalcemia, Familial
    • Hypoparathyroidism, Autosomal Dominant
  • Hypoparathyroidism-Retardation-Dysmorphism Syndrome
    • Hypoparathyroidism With Short Stature, Mental Retardation, And Seizures
    • Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation, And Developmental Delay
    • Sanjad-Sakati Syndrome
  • Hypophosphatasia, Infantile
    • Hypophosphatasia, Perinatal Lethal, Included
    • Phosphoethanolaminuria
  • Hypophosphatemic Rickets, Autosomal Recessive, 1
    • Hypophosphatemia, Autosomal Recessive
    • Hypophosphatemic Rickets, Autosomal Recessive
  • Hypophosphatemic Rickets, Autosomal Recessive, 2
  • Hypoplastic Left Heart Syndrome 1
  • Hypospadias 2, X-Linked
  • Hypothyroidism, Central, And Testicular Enlargement
  • Hypothyroidism, Congenital, Nongoitrous, 1
    • Hypothyroidism Due To Unresponsiveness To Thyrotropin
    • Hypothyroidism, Congenital, Due To Tsh Resistance
    • Hypothyroidism, Nonautoimmune
    • Thyroid-Stimulating Hormone, Resistance To
    • Thyrotropin Resistance
    • Tsh Resistance
  • Hypothyroidism, Congenital, Nongoitrous, 2
    • Athyreotic Hypothyroidism
    • Hypothyroidism, Athyreotic
    • Hypothyroidism, Congenital, Due To Thyroid Dysgenesis
    • Resistance To Thyrotropin
    • Thyroid Agenesis
    • Thyroid Dysgenesis
    • Thyroid Hypoplasia
    • Thyroid, Ectopic
    • Thyrotropin Resistance
  • Hypothyroidism, Congenital, Nongoitrous, 5
  • Hypothyroidism, Congenital, Nongoitrous, 6
  • Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate
    • Bamforth-Lazarus Syndrome
  • Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 1
    • 0
  • Hypotonia-Cystinuria Syndrome
    • Cystinuria With Mitochondrial Disease
    • Homozygous 2p16 Deletion Syndrome, Formerly
    • Homozygous 2p21 Deletion Syndrome, Included
  • Hypotrichosis 11
  • Hypotrichosis 3
    • Hypotrichosis Simplex Of The Scalp 2
  • Hypotrichosis 4
    • Hypotrichosis, Marie Unna Type, 1
    • Marie Unna Hereditary Hypotrichosis 1
  • Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
    • Hypotrichosis With Cone-Rod Dystrophy
  • Ichthyosis Prematurity Syndrome
    • Ichthyosis Congenita Iv
  • Ichthyosis Vulgaris
    • Ichthyosis Simplex
  • Ichthyosis, Congenital, Autosomal Recessive 10
    • 0
  • Ichthyosis, Congenital, Autosomal Recessive 8
    • Ichthyosis, Lamellar, 4, Formerly
    • Lamellar Ichthyosis, Late-Onset
  • Ichthyosis, Hystrix-Like, With Deafness
    • HID Syndrome
    • Hystrix-like Ichthyosis With Deafness
  • Ichthyosis, Spastic Quadriplegia, And Mental Retardation
  • Ichthyosis, X-Linked
    • Arsc, S Form, Included
    • Arylsulfatase C, Isozyme S, Included
    • Placental Steroid Sulfatase Deficiency
    • Steroid Sulfatase Deficiency
    • Steroid Sulfatase Deficiency Disease
  • Immunodeficiency 23
    • Immunodeficiency With Hyper Ige And Cognitive Impairment
    • Immunodeficiency-Vasculitis-Myoclonus Syndrome
  • Immunodeficiency 27a
    • Atypical Mycobacterial Infection, Disseminated
    • Atypical Mycobacterial Infection, Familial Disseminated
    • Atypical Mycobacteriosis, Familial
    • Mycobacterial Disease, Mendelian Susceptibility To
  • Immunodeficiency 31b
    • Immunodeficiency 31B, Mycobacterial And Viral Infections, Autosomal Recessive
    • STAT1 Deficiency, Autosomal Recessive
  • Immunodeficiency 31c
    • Candidiasis, Familial, 7|Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant
  • Immunodeficiency 33
  • Immunodeficiency Without Anhidrotic Ectodermal Dysplasia
  • Immunodeficiency, Common Variable, 2
    • Antibody Deficiency Due To TACI Defect
    • Hypogammaglobulinemia Due To Taci Deficiency
  • Immunodeficiency, Common Variable, 8, With Autoimmunity
  • Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
    • Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16|Centromeric Instability, Immunodeficiency Syndrome|Immunodeficiency Syndrome, Variable
  • Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
    • Autoimmunity-Immunodeficiency Syndrome, X-Linked
    • Diabetes Mellitus, Congenital Insulin-Dependent, With Fatal Secretory Diarrhea
    • Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked
    • Enteropathy, Autoimmune, With Hemolytic Anemia And Polyendocrinopathy
    • Iddm-Secretory Diarrhea Syndrome
    • Immunodeficiency, Polyendocrinopathy, And Enteropathy, X-Linked, Formerly
    • Islets Of Langerhans, Absence Of, Included
    • Polyendocrinopathy, Immune Dysfunction, And Diarrhea, X-Linked
    • X-Linked Autoimmunity-Allergic Dysregulation Syndrome
  • Incontinentia Pigmenti
    • Bloch-Sulzberger Syndrome
    • Incontinentia Pigmenti, Familial Male-Lethal Type
    • Incontinentia Pigmenti, Type II, Formerly
  • Infantile Cerebellar-Retinal Degeneration
  • Infantile Sialic Acid Storage Disease
    • N-Acetylneuraminic Acid Storage Disease
    • Nana Storage Disease
    • Sialuria, Infantile Form
  • Insensitivity to Pain, Congenital, with Anhidrosis
    • Familial Dysautonomia, Type II
    • Hereditary Sensory And Autonomic Neuropathy IV
    • Neuropathy, Congenital Sensory, With Anhidrosis
  • Insulin-Like Growth Factor I Deficiency
    • Growth Retardation With Sensorineural Deafness And Mental Retardation
    • Igf1 Deficiency
  • Insulin-Like Growth Factor I, Resistance To
    • Igf-I Resistance
    • Insulin-Like Growth Factor I, Resistance To, Due To Increased Binding Protein, Included
    • Somatomedin, End-Organ Insensitivity To
    • Somatomedin-C, Resistance To
  • Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
    • Dias-Logan Syndrome
  • Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
  • Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
    • CIIP, X-Linked
    • Congenital Idiopathic Intestinal Pseudoobstruction
    • Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, With Central Nervous System Involvement
  • Iron-Refractory Iron Deficiency Anemia
    • Anaemia, Hypochromic Microcytic, With Defect In Iron Metabolism
    • Anemia, Hypochromic Microcytic, With Defect In Iron Metabolism
    • Iron-Handling Disorder, Hereditary
    • Iron-Refractory Iron Deficiency Anaemia
    • Pseudo-Iron-Deficiency Anaemia
    • Pseudo-Iron-Deficiency Anemia
  • Ischiocoxopodopatellar Syndrome
    • Ischiopatellar Dysplasia|Coxopodopatellar Syndrome
    • Patella Aplasia, Coxa Vara, And Tarsal Synostosis
    • Scott-Taor Syndrome
    • Small Patella Syndrome
  • Isovaleric Acidemia
    • Isovaleric Acid Coa Dehydrogenase Deficiency
    • IVD Deficiency
  • Jackson-Weiss Syndrome
    • Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities
  • Jervell And Lange-Nielsen Syndrome 1
    • Cardioauditory Syndrome Of Jervell And Lange-Nielsen
    • Deafness, Congenital, And Functional Heart Disease
    • Prolonged Qt Interval In Ekg And Sudden Death
    • Surdo-Cardiac Syndrome
  • Johanson-Blizzard Syndrome
    • Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, And Congenital Deafness
  • Joubert Syndrome 1
    • Cerebellooculorenal Syndrome 1
    • Cerebelloparenchymal Disorder IV
    • Joubert Syndrome
    • Joubert-Boltshauser Syndrome
  • Joubert Syndrome 10
  • Joubert Syndrome 12
  • Joubert Syndrome 13
  • Joubert Syndrome 14
  • Joubert Syndrome 15
  • Joubert Syndrome 17
  • Joubert Syndrome 2
    • Cerebellooculorenal Syndrome 2
  • Joubert Syndrome 21
  • Joubert Syndrome 24
    • 0
  • Joubert Syndrome 4
  • Joubert Syndrome 5
  • Joubert Syndrome 6
  • Joubert Syndrome 7
  • Joubert Syndrome 9
  • Juvenile Polyposis Syndrome
    • Juvenile Intestinal Polyposis
    • Juvenile Polyposis Coli, Included
    • Juvenile Polyposis Of Stomach, Included
    • Polyposis, Familial, Of Entire Gastrointestinal Tract
    • Polyposis, Juvenile Intestinal
  • Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
    • JP/HHT Syndrome
    • Juvenile Polyposis With Hereditary Hemorrhagic Telangiectasia
    • Polyposis, Generalized Juvenile, With Pulmonary Arteriovenous Malformation
    • Telangiectasia, Hereditary Hemorrhagic, With Juvenile Polyposis Coli
  • Kabuki Syndrome 1
  • Kanzaki Disease
    • Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset
    • Alpha-N-Acetylgalactosaminidase Deficiency, Type II
    • Naga Deficiency, Type II
    • Schindler Disease, Type Ii
  • KBG Syndrome
    • Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, and Skeletal Anomalies
  • Kelley-Seegmiller Syndrome
  • Kenny-Caffey Syndrome, Type 1
  • Kenny-Caffey Syndrome, Type 2
    • Dwarfism, Cortical Thickening Of Tubular Bones, And Transient Hypocalcemia
    • Kenny Syndrome
  • Keratitis, Hereditary
  • Keratoderma, Palmoplantar, With Deafness
    • 0
  • Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
    • Klick Syndrome
  • Keutel Syndrome
    • Pulmonic Stenosis, Brachytelephalangism, And Calcification Of Cartilages
  • Kin Of Irre-Like 3
    • KIAA1867
    • Kirre, Mouse, Homolog Of
    • Nephrin-Like 2
  • Kleefstra Syndrome
    • 9q Subtelomeric Deletion Syndrome
    • 9q- Syndrome
    • Chromosome 9q34.3 Deletion Syndrome
  • Klippel-Feil Syndrome 1, Autosomal Dominant
    • Cervical Vertebral Fusion, Autosomal Dominant
    • Kfs
  • Klippel-Feil Syndrome 3, Autosomal Dominant
  • Kniest Dysplasia
  • Knobloch Syndrome 1
    • Retinal Detachment And Occipital Encephalocele
  • Knuckle Pads, Leukonychia, And Sensorineural Deafness
    • Bart-Pumphrey syndrome
  • Koolen-De Vries Syndrome
    • Chromosome 17q21.31 Deletion Syndrome
    • Microdeletion 17q21.31 Syndrome
  • Krabbe Disease
    • Galactocerebrosidase Deficiency
    • Galactosylceramide Beta-Galactosidase Deficiency
    • Galc Deficiency
    • Globoid Cell Leukodystrophy
    • Globoid Cell Leukoencephalopathy
  • Krabbe Disease, Atypical, Due To Saposin A Deficiency
  • Kufor-Rakeb Syndrome
    • Ceroid Lipofuscinosis, Neuronal, 12, Included
    • Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis And Dementia
    • Parkinson Disease 9, Autosomal Recessive
  • L-2-Hydroxyglutaric Aciduria
    • L-2-Hydroxyglutaric Acidemia
  • Lacrimoauriculodentodigital Syndrome
    • Levy-Hollister Syndrome
  • Langer Mesomelic Dysplasia
  • Laron Syndrome
    • Growth Hormone Insensitivity Syndrome
    • Growth Hormone Receptor Deficiency
    • Pituitary Dwarfism II
  • Larsen Syndrome
  • Lathosterolosis
    • SC5D Deficiency
    • Sterol C5-Desaturase Deficiency
  • Leber Congenital Amaurosis 10
  • Leber Congenital Amaurosis 14
    • Retinal Dystrophy, Early-Onset Severe, LRAT-Related
    • Retinitis Pigmentosa, Juvenile
    • Retinitis Pigmentosa, Juvenile, LRAT-Related
  • Leber Congenital Amaurosis 4
    • Cone-Rod Dystrophy, AIPL1-Related
    • Retinitis Pigmentosa, Juvenile
    • Retinitis Pigmentosa, Juvenile, AIPL1-Related
  • Leber Congenital Amaurosis 6
  • Leber Congenital Amaurosis 7
  • Leber Congenital Amaurosis 8
  • Leber Congenital Amaurosis 9
  • Legg-Calve-Perthes Disease
    • Legg-Perthes Disease
    • Perthes Disease
  • Legius Syndrome
    • Neurofibromatosis, Type 1-Like Syndrome
  • Leigh Syndrome
    • Leigh Syndrome Due To Cytochrome C Oxidase Deficiency, Included
    • Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
  • Leigh Syndrome, French Canadian Type
    • Cox Deficiency, French Canadian Type
    • Cox Deficiency, Saguenay-Lac-Saint-Jean Type
    • Cytochrome C Oxidase Deficiency, French Canadian Type
    • Leigh Syndrome, Saguenay-Lac-Saint-Jean Type
  • Lenz-Majewski Hyperostotic Dwarfism
    • Lenz-Majewski Syndrome
  • Leopard Syndrome 1
    • Lentiginosis, Cardiomyopathic
    • Multiple Lentigines Syndrome
  • Leopard Syndrome 3
  • Leri-Weill Dyschondrosteosis
    • Dyschondrosteosis
    • Madelung Deformity, Included
  • Lesch-Nyhan Syndrome
    • Hprt Deficiency
    • Hprt Deficiency, Complete
    • Hprt Deficiency, Neurologic Variant, Included
    • Hprt1 Deficiency
    • Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency
    • Lesch-Nyhan Syndrome, Neurologic Variant, Included
  • Lethal Arthrogryposis With Anterior Horn Cell Disease
  • Lethal Congenital Contracture Syndrome 2
    • Multiple Contracture Syndrome, Israeli Bedouin Type A
  • Lethal Congenital Contracture Syndrome 3
    • Multiple Contracture Syndrome, Israeli Bedouin Type B
  • Leukodystrophy, Hypomyelinating, 2
    • Pelizaeus-Merzbacher-Like Disease, 1
  • Leukodystrophy, Hypomyelinating, 3
  • Leukodystrophy, Hypomyelinating, 4
    • Mitchap60 Disease
    • Mitochondrial HSP60 Chaperonopathy
  • Leukodystrophy, Hypomyelinating, 5
    • Hypomyelination And Congenital Cataract: Hcc
  • Leukodystrophy, Hypomyelinating, 6
    • Leukodystrophy, Hypomyelinating, With Atrophy of the Basal Ganglia and Cerebellum
  • Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
    • 4h Syndrome
    • Ataxia, Delayed Dentition, And Hypomyelination
    • Leukodystrophy, Hypomyelinating, With Hypodontia And Hypogonadotropic Hypogonadism
    • Leukoencephalopathy, Hypomyelinating, With Ataxia And Delayed Dentition
  • Leukodystrophy, Hypomyelinating, 8, With or Without Oligodontia and/or Hypogonadotropic Hypogonadism
    • 0
  • Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
    • Mitochondrial Aspartyl-tRNA Synthetase Deficiency
  • Leukoencephalopathy, Cystic, Without Megalencephaly
  • LIG4 Syndrome
  • Limb-Mammary Syndrome
  • Linear Skin Defects With Multiple Congenital Anomalies 1
    • Microphthalmia With Linear Skin Defects
    • Microphthalmia, Dermal Aplasia, And Sclerocornea
    • Microphthalmia, Syndromic 7
    • Midas Syndrome
  • Linear Skin Defects With Multiple Congenital Anomalies 2
    • Aplasia Cutis Congenita, Reticulolinear, With Microcephaly, Facial Dysmorphism, And Other Congenital Anomalies
  • Lipodystrophy, Congenital Generalized, Type 3
    • Berardinelli-Seip Congenital Lipodystrophy, Type 3
    • Lipodystrophy, Berardinelli-Seip Congenital, Type 3
  • Lipodystrophy, Familial Partial, Type 2
    • Fpl2
    • Lipoatrophic Diabetes
    • Lipodystrophy, Familial Partial, Dunnigan Type
    • Lipodystrophy, Familial, Of Limbs And Lower Trunk
    • Lipodystrophy, Reverse Partial
  • Lipoid Congenital Adrenal Hyperplasia
    • Adrenal Hyperplasia I
    • Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism
  • Lissencephaly 1
    • Lissencephaly Sequence, Isolated
    • Lissencephaly, Classic
    • Subcortical Band Heterotopia, Included
    • Subcortical Laminar Heterotopia, Included
  • Lissencephaly 2
    • Lissencephaly Syndrome, Norman-Roberts Type
    • Norman-Roberts Syndrome
  • Lissencephaly 3
  • Lissencephaly 4
    • Lissencephaly 4, With Microcephaly
  • Lissencephaly 5
  • Lissencephaly, X-Linked, 1
    • Dc Syndrome, Included
    • Double Cortex Syndrome, Included
    • Lissencephaly And Agenesis Of Corpus Callosum
    • Subcortical Band Heterotopia, X-Linked, Included
    • Subcortical Laminar Heterotopia, X-Linked, Included
  • Lissencephaly, X-Linked, 2
    • Hydranencephaly and Abnormal Genitalia, included
    • Lissencephaly, X-Linked, With Ambiguous Genitalia
  • Loeys-Dietz Syndrome 3
    • Aneurysms-Osteoarthritis Syndrome
    • Loeys-Dietz Syndrome With Osteoarthritis
    • Loeys-Dietz Syndrome, Type 1C, Formerly
    • Loeys-Dietz Syndrome, Type 3
  • Loeys-Dietz Syndrome 4
    • Aneurysm, Aortic and Cerebral, with Arterial Tortuosity and Skeletal Manifestations
    • Loeys-Dietz Syndrome, Type 4
  • Lubs X-Linked Mental Retardation Syndrome
    • MECP2 Duplication Syndrome
    • Mental Retardation, X-Linked, Lubs Type
    • Mental Retardation, X-Linked, With Recurrent Respiratory Infections
  • Lymphangioleiomyomatosis
    • Lymphangiomyomatosis
  • Lymphedema, Hereditary, IA
    • Lymphedema, Early-Onset
    • Lymphedema, Hereditary, I
    • Milroy Disease
    • Nonne-Milroy Lymphedema
    • Primary Congenital Lymphedema
  • Lymphedema, Hereditary, IC
  • Lymphedema, Primary, With Myelodysplasia
    • Emberger Syndrome
  • Lymphedema-Distichiasis Syndrome
    • Lymphedema With Distichiasis
  • Macrocephaly And Epileptic Encephalopathy
  • Macrocephaly, Macrosomia, And Facial Dysmorphism Syndrome
  • Macrocephaly/Autism Syndrome
    • 0
  • Macrothrombocytopenia And Progressive Sensorineural Deafness
  • Malonyl-CoA Decarboxylase Deficiency
  • Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
  • Mandibuloacral Dysplasia With Type A Lipodystrophy
    • Craniomandibular Dermatodysostosis
    • Lipodystrophy, Type A, Associated With Mandibuloacral Dysplasia
  • Mandibuloacral Dysplasia With Type B Lipodystrophy
    • Lipodystrophy, Type B, Associated With Mandibuloacral Dysplasia
  • Mandibulofacial Dysostosis, Guion-Almeida Type
    • Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate
    • Mandibulofacial Dysostosis with Microcephaly
  • Manitoba Oculotrichoanal Syndrome
    • Marles Syndrome
  • Mannosidosis, Beta A, Lysosomal
    • Beta-Mannosidase Deficiency
    • Beta-Mannosidosis
    • Lysosomal Beta-Mannosidase Deficiency
  • Maple Syrup Urine Disease
    • Bckd Deficiency
    • Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency
    • Branched-Chain Ketoaciduria
    • Keto Acid Decarboxylase Deficiency
  • Marfan Syndrome
    • Marfan Syndrome, Type I
  • Marshall-Smith Syndrome
  • Martinez-Frias Syndrome
    • Pancreatic Hypoplasia, Intestinal Atresia, And Gallbladder Aplasia Or Hypoplasia, With Or Without Tracheoesophageal Fistula
  • Martsolf Syndrome
    • Cataract-Mental Retardation-Hypogonadism
  • MASA Syndrome
    • Adducted Thumb With Mental Retardation
    • Clasped Thumb And Mental Retardation
    • Crash Syndrome
    • Gareis-Mason Syndrome
    • Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs
    • Spastic Paraplegia 1, X-Linked
    • Thumb, Congenital Clasped, With Mental Retardation
  • MASS Syndrome
    • Mass Phenotype
    • Overlap Connective Tissue Disease
  • Maturity-Onset Diabetes Of The Young
    • Mason-Type Diabetes
  • May-Hegglin Anomaly
    • Bleeding Disorder, Platelet-Type, 6
    • Dohle Leukocyte Inclusions With Giant Platelets
    • Macrothrombocytopenia With Leukocyte Inclusions
  • Meckel Syndrome, Type 1
    • Dysencephalia Splanchnocystica
    • Gruber Syndrome
    • Meckel Syndrome
    • Meckel-Gruber Syndrome
    • Meckel-Gruber Syndrome, Type 1
  • Meckel Syndrome, Type 3
    • Meckel-Gruber Syndrome, Type 3
  • Meckel Syndrome, Type 4
    • Meckel-Gruber Syndrome, Type 4
  • Meckel Syndrome, Type 5
  • Meckel Syndrome, Type 6
  • Meckel Syndrome, Type 7
    • Goldston Syndrome
    • Renal-Hepatic-Pancreatic Dysplasia With Dandy-Walker Cyst
  • Megalencephalic Leukoencephalopathy With Subcortical Cysts 1
    • Lvm|Vl|Leukoencephalopathy With Swelling And Cysts
    • Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts
    • Van Der Knaap Disease
  • Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
    • Macrocephaly-Capillary Malformation
    • Macrocephaly-Cutis Marmorata Telangiectatica Congenita
    • Megalencephaly-Capillary Malformation Syndrome
    • Megalencephaly-Cutis Marmorata Telangiectatica Congenita
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
    • MEG-PMG-MEGACC Syndrome
    • Megalencephaly, Mega Corpus Callosum, And Complete Lack Of Motor Development
    • Megalencephaly, Polymicrogyria, Mega Corpus Callosum Syndrome
  • Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
  • Meier-Gorlin Syndrome 2
  • Meier-Gorlin Syndrome 3
  • Meier-Gorlin Syndrome 4
  • Meier-Gorlin Syndrome 5
  • Melnick-Needles Syndrome
    • Melnick-Needles Osteodysplasty
    • Osteodysplasty Of Melnick And Needles
  • Melorheostosis, Isolated
  • Menkes Disease
    • Copper Transport Disease
    • Kinky Hair Disease
    • Menkes Syndrome
    • Steely Hair Disease
  • Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia
    • Mental Retardation, X-Linked, Syndromic, NAJM Type
    • MICPCH Syndrome
  • Mental Retardation With Language Impairment And With Or Without Autistic Features
  • Mental Retardation, Anterior Maxillary Protrusion, And Strabismus
  • Mental Retardation, Autosomal Dominant 1
  • Mental Retardation, Autosomal Dominant 18
  • Mental Retardation, Autosomal Dominant 20
    • Mental Retardation, Stereotypic Movements, Epilepsy, And/Or Cerebral Malformations
  • Mental Retardation, Autosomal Dominant 23
  • Mental Retardation, Autosomal Dominant 24
  • Mental Retardation, Autosomal Dominant 27
  • Mental Retardation, Autosomal Dominant 3
  • Mental Retardation, Autosomal Dominant 31
    • 0
  • Mental Retardation, Autosomal Dominant 34
    • 0
  • Mental Retardation, Autosomal Dominant 35
    • 0
  • Mental Retardation, Autosomal Dominant 36
    • 0
  • Mental Retardation, Autosomal Dominant 4
  • Mental Retardation, Autosomal Dominant 6
  • Mental Retardation, Autosomal Dominant 8
  • Mental Retardation, Autosomal Dominant 9
  • Mental Retardation, Autosomal Recessive 1
  • Mental Retardation, Autosomal Recessive 12
  • Mental Retardation, Autosomal Recessive 13
  • Mental Retardation, Autosomal Recessive 15
    • 0
  • Mental Retardation, Autosomal Recessive 18
  • Mental Retardation, Autosomal Recessive 2
    • Mental Retardation, Autosomal Recessive 2a
  • Mental Retardation, Autosomal Recessive 27
    • 0
  • Mental Retardation, Autosomal Recessive 3
  • Mental Retardation, Autosomal Recessive 34
  • Mental Retardation, Autosomal Recessive 41
    • 0
  • Mental Retardation, Autosomal Recessive 46
    • 0
  • Mental Retardation, Autosomal Recessive 5
  • Mental Retardation, Autosomal Recessive 6
  • Mental Retardation, Autosomal Recessive 7
    • Mental Retardation, Autosomal Recessive 22
  • Mental Retardation, FRA12A Type
  • Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
  • Mental Retardation, X-Linked 1
    • Mental Retardation, X-Linked 18
    • Mental Retardation, X-Linked 78
    • Mrx
  • Mental Retardation, X-Linked 100
    • 0
  • Mental Retardation, X-Linked 102
    • 0
  • Mental Retardation, X-Linked 21
    • Mental Retardation, X-Linked 34
  • Mental Retardation, X-Linked 30
    • Mental Retardation, X-Linked 47
  • Mental Retardation, X-Linked 46
  • Mental Retardation, X-Linked 63
    • Mental Retardation, X-Linked 68
  • Mental Retardation, X-Linked 72
  • Mental Retardation, X-Linked 9
    • Mental Retardation, X-Linked 44
  • Mental Retardation, X-Linked 91
  • Mental Retardation, X-Linked 93
    • Mental Retardation, X-Linked, With Macrocephaly
  • Mental Retardation, X-Linked 95
  • Mental Retardation, X-Linked 96
  • Mental Retardation, X-Linked 97
    • Mrxz
  • Mental Retardation, X-Linked 98
    • .
  • Mental Retardation, X-Linked 99
  • Mental Retardation, X-Linked, Associated With Fragile Site FRAXE
    • Fragile Site Mental Retardation 2 Gene
    • Fraxe Mental Retardation Syndrome
    • Mental Retardation, X-Linked, Associated With Fragile Site Fraxe
  • Mental Retardation, X-Linked, Syndromic 10
    • Chorioathetosis With Mental Retardation And Abnormal Behavior
    • Mental Retardation With Chorioathetosis And Abnormal Behavior
  • Mental Retardation, X-Linked, Syndromic 13
    • Mental Retardation With Psychosis, Pyramidal Signs, And Macroorchidism
    • Mental Retardation, X-Linked 16
    • Mental Retardation, X-Linked 79
    • Mental Retardation, X-Linked, With Spasticity
  • Mental Retardation, X-Linked, Syndromic 15 (Cabezas type)
    • Cabezas Syndrome
    • Mental Retardation, X-Linked, Syndromic 15
    • Mental Retardation, X-Linked, With Short Stature
    • Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait
  • Mental Retardation, X-Linked, Syndromic, Christianson Type
    • Angelman-Like Syndrome, X-Linked
    • Mental Retardation, Microcephaly, Epilepsy, And Ataxia Syndrome
  • Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type
    • Mental Retardation, X-Linked, Syndromic, Jarid1c-Related
  • Mental Retardation, X-Linked, Syndromic, Hedera Type
    • Mental Retardation, X-Linked, With Epilepsy
  • Mental Retardation, X-Linked, Syndromic, Nascimento Type
    • Mental Retardation, X-Linked, Syndromic 30
  • Mental Retardation, X-Linked, Syndromic, Raymond Type
  • Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type
    • Snyder-Robinson Mental Retardation Syndrome
  • Mental Retardation, X-Linked, Syndromic, Turner Type
    • Mental Retardation And Macrocephaly Syndrome
  • Mental Retardation, X-Linked, Syndromic, Wu Type
    • Mental Retardation, X-Linked 94
    • Mental Retardation, X-Linked, Syndromic 29
  • Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance
    • Mental Retardation, X-Linked 60, Formerly
  • Mental Retardation, X-Linked, With Or Without Seizures, ARX-related
    • Mental Retardation, X-Linked 36
  • Mental Retardation, X-Linked, With Panhypopituitarism
    • Mental Retardation, X-Linked, With Isolated Growth Hormone Deficiency, Included
  • Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
    • Carpenter-Waziri Syndrome
    • Chudley-Lowry Syndrome
    • Holmes-Gang Syndrome
    • Juberg-Marsidi Syndrome
    • Mental Retardation, X-Linked, With Growth Retardation, Deafness, And Microgenitalism
    • Smith-Fineman-Myers Syndrome 1
    • XLMR-Hypotonic Facies Syndrome
  • Metachromatic Leukodystrophy
    • Arsa Deficiency
    • Arylsulfatase A Deficiency
    • Cerebral Sclerosis, Diffuse, Metachromatic Form
    • Cerebroside Sulfatase Deficiency
    • Metachromatic Leukodystrophy, Adult, Included
    • Metachromatic Leukodystrophy, Juvenile, Included
    • Metachromatic Leukodystrophy, Late Infantile, Included
    • Metachromatic Leukoencephalopathy
    • Mld
    • Pseudoarylsulfatase A Deficiency, Included
    • Sulfatide Lipidosis
  • Metaphyseal Chondrodysplasia, Jansen Type
    • Metaphyseal Chondrodysplasia, Murk Jansen Type
  • Metatropic Dysplasia
    • Metatropic Dwarfism
  • Methemoglobinemia Due To Deficiency of Methemoglobin Reductase
    • Methemoglobinemia, Congenital, Autosomal Recessive
    • NADH-Cytochrome b5 Reductase Deficiency
    • NADH-Dependent Methemoglobin Reductase Deficiency
  • Methionine Adenosyltransferase I/III Deficiency
    • Hypermethioninemia, Isolated Persistent
    • Mat Deficiency
    • Mat I/III Deficiency
    • Methionine Adenosyltransferase Deficiency
  • Methylmalonic Aciduria And Homocystinuria, cblC Type
    • Methylmalonic Acidemia And Homocystinuria, cblC Type
    • Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive
    • Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-CoA Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase
  • Methylmalonic Aciduria And Homocystinuria, cblD Type
    • Methylmalonic Acidemia And Homocystinuria, cblD Type
  • Methylmalonic Aciduria And Homocystinuria, cblF Type
    • Cobalamin F Disease; cblF
    • Cobalamin, Defect In Lysosomal Release Of
    • Methylmalonic Acidemia And Homocystinuria, cblF Type
    • Methylmalonic Aciduria Due To Vitamin B12-Release Defect
    • Vitamin B12 Lysosomal Release Defect
    • Vitamin B12 Storage Disease
  • Methylmalonic Aciduria And Homocystinuria, cblJ Type
  • Methylmalonic Aciduria Due To Methylmalonyl-CoA Mutase Deficiency
    • Methylmalonic Acidemia Due To Methylmalonyl-CoA Mutase Deficiency MMA Due To MCM Deficiency
    • Methylmalonic Aciduria, mut Type
  • Methylmalonic Aciduria, cblA Type
    • Methylmalonic Acidemia, cblA Type
    • Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, cblA Type
  • Methylmalonic Aciduria, cblB Type
    • Methylmalonic Acidemia, cblB Type
    • Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, cblB Type
  • Methylmalonyl-CoA Epimerase Deficiency
    • Methylmalonic Aciduria III, Formerly
    • Methylmalonyl-CoA Racemase Deficiency
  • Microcephalic Osteodysplastic Primordial Dwarfism, Type II
    • Osteodysplastic Primordial Dwarfism, Type II
  • Microcephaly 1, Primary, Autosomal Recessive
    • Pcc Syndrome
    • Pmicrocephaly, Primary Autosomal Recessive, 1
    • Premature Chromosome Condensation Syndrome
    • Premature Chromosome Condensation With Microcephaly And Mental Retardation
  • Microcephaly 11, Primary, Autosomal Recessive
  • Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
  • Microcephaly 4, Primary, Autosomal Recessive
  • Microcephaly 5, Primary, Autosomal Recessive
    • Microcephaly, Primary Autosomal Recessive, 5
  • Microcephaly 6, Primary, Autosomal Recessive
  • Microcephaly 7, Primary, Autosomal Recessive
  • Microcephaly 8, Primary, Autosomal Recessive
  • Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
  • Microcephaly and Chorioretinopathy, Autosomal Recessive, 2
    • 0
  • Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
    • Cdmmr Syndrome
    • Lymphedema And Retinal Folds With Microcephaly And Microphthalmos
    • Lymphedema, Microcephaly, Chorioretinopathy Syndrome
    • Microcephaly And Chorioretinopathy With Or Without Mental Retardation, Autosomal Dominant
    • Microcephaly, Lymphedema, Chorioretinal Dysplasia Syndrome
    • Mlcrd Syndrome
  • Microcephaly, Amish Type
    • Amish Lethal Microcephaly|Thiamine Metabolism Dysfunction Syndrome 3 (Microcephaly Type)
  • Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
  • Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
  • Microcephaly, Seizures, And Developmental Delay
    • Epileptic Encephalopathy, Early Infantile, 10
  • Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
    • Polymicrogyria With Seizures
  • Microcephaly-Capillary Malformation Syndrome
    • 0
  • Microphthalmia With Limb Anomalies
    • Anophthalmia-Syndactyly
    • Ophthalmoacromelic Syndrome
    • Waardenburg Anophthalmia Syndrome
  • Microphthalmia, Isolated 2
    • Anophthalmia, Clinical, Isolated
  • Microphthalmia, Isolated 3
  • Microphthalmia, Isolated 4
  • Microphthalmia, Isolated 6
    • Microphthalmia, Posterior Nonsyndromic
  • Microphthalmia, Isolated 7
  • Microphthalmia, Isolated 8
    • 0
  • Microphthalmia, Isolated, With Coloboma 3
    • Microphthalmia, Colobomatous, Isolated 3
  • Microphthalmia, Isolated, With Coloboma 5
  • Microphthalmia, Isolated, With Coloboma 6
  • Microphthalmia, Isolated, With Coloboma 7
  • Microphthalmia, Syndromic 2
    • Microphthalmia, Cataracts, Radiculomegaly, And Septal Heart Defects
    • Oculofaciocardiodental Syndrome
    • OFCD Syndrome
  • Microphthalmia, Syndromic 6
    • Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia
    • Microphthalmia And Pituitary Anomalies
    • Microphthalmia With Brain And Digit Developmental Anomalies
  • Microphthalmia, Syndromic 8
    • Microcephaly, Microphthalmia, Ectrodactyly Of Lower Limbs, And Prognathism
  • Microphthalmia, Syndromic 9
    • Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm
    • Anophthalmia/Microphthalmia And Pulmonary Hypoplasia
    • Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect
    • Spear Syndrome|Matthew-Wood Syndrome
  • Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
  • Midline 2
    • Midin 2
  • Mirror Movements 2
  • Mismatch Repair Cancer Syndrome
    • Brain Tumor-Polyposis Syndrome 1
    • Btp1 Syndrome
    • Childhood Cancer Syndrome
    • Mismatch Repair Deficiency
    • Mmr Deficiency
    • Turcot Syndrome
  • Mitochondrial Complex I Deficiency
    • Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of
    • Nadh-Coenzyme Q Reductase Deficiency
    • Nadh:Q(1) Oxidoreductase Deficiency
  • Mitochondrial Complex I Deficiency Due To ACAD9 Deficiency
    • ACAD9 Deficiency
    • Acyl-CoA Dehydrogenase Family, Member 9, Deficiency Of
  • Mitochondrial Complex III Deficiency, Nuclear Type 1
  • Mitochondrial Complex III Deficiency, Nuclear Type 6
  • Mitochondrial Complex IV Deficiency
    • COX Deficiency
    • Cytochrome c Oxidase Deficiency
  • Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type)
    • Mitochondrial DNA Depletion Myopathy, TK2-Related
  • Mitochondrial DNA Depletion Syndrome 6 (Hepatocerebral Type)
    • Navajo Neurohepatopathy
    • Navajo Neuropathy
  • Mohr-Tranebjaerg Syndrome
    • Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency
    • Deafness-Dystonia-Optic Atrophy Syndrome
    • Dystonia-Deafness Syndrome
    • Jensen Syndrome
    • Opticoacoustic Nerve Atrophy With Dementia
  • Molybdenum Cofactor Deficiency, Complementation Group A
    • Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase, Combined Deficiency Of
  • Molybdenum Cofactor Synthesis Gene 1
  • Mosaic Variegated Aneuploidy Syndrome 1
    • Mva Syndrome
  • Mosaic Variegated Aneuploidy Syndrome 2
  • Mowat-Wilson Syndrome
    • Hirschsprung Disease Syndrome
    • Hirschsprung Disease-Mental Retardation Syndrome
    • Microcephaly, Mental Retardation, And Distinct Facial Features, With
    • Or Without Hirschsprung Disease
  • Moyamoya Disease 5
  • Mucolipidosis II Alpha/Beta
    • I-Cell Disease
    • ML II Alpha/Beta
    • Mucolipidosis II
  • Mucolipidosis III Alpha/Beta
    • ML III Alpha/Beta
    • Mucolipidosis III
    • Mucolipidosis IIIA
    • Pseudo-Hurler Polydystrophy
  • Mucolipidosis III Gamma
    • Ml III Gamma
    • Mucolipidosis III, Complementation Group C
    • Mucolipidosis III, Iranian Variant Form
    • Mucolipidosis III, Variant Form
    • Mucolipidosis IIIc
  • Mucolipidosis IV
    • Sialolipidosis
  • Mucopolysaccharidosis Type IIIA
    • Heparan Sulfate Sulfatase Deficiency
    • Sanfilippo Syndrome A
    • Sulfamidase Deficiency
  • Mucopolysaccharidosis Type IIIB
    • N-Acetyl-Alpha-D-Glucosaminidase Deficiency
    • NAGLU Deficiency
    • Sanfilippo Syndrome B
  • Mucopolysaccharidosis Type IIIC
    • Acetyl-Coa:Alpha-Glucosaminide N-Acetyltransferase Deficiency
    • Sanfilippo Syndrome C
  • Mucopolysaccharidosis Type IIID
    • N-Acetylglucosamine-6-Sulfatase Deficiency
    • Sanfilippo Syndrome D
  • Mucopolysaccharidosis Type IVA
    • Galactosamine-6-Sulfatase Deficiency
    • Galactosamine-6-Sulfate Sulfatase, Included
    • GALNS Deficiency
    • Morquio Syndrome A
    • MPS IVA
  • Mucopolysaccharidosis Type IVB
    • Morquio Syndrome B
    • MPS IVB
  • Mucopolysaccharidosis Type VI
    • Arsb Deficiency
    • Arylsulfatase B Deficiency
    • Maroteaux-Lamy Syndrome
    • N-Acetylgalactosamine-4-Sulfatase Deficiency
  • Mucopolysaccharidosis Type VII
    • Beta-Glucuronidase Deficiency
    • Gusb Deficiency
    • Sly Syndrome
  • Muenke Syndrome
    • Muenke Nonsyndromic Coronal Craniosynostosis
  • Mullerian Aplasia and Hyperandrogenism
    • Mullerian Duct Failure And Hyperandrogenism
  • Multicentric Carpotarsal Osteolysis Syndrome
    • Multicentric Osteolysis, Autosomal Dominant
    • Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy
  • Multiple Acyl-CoA Dehydrogenase Deficiency
    • Ethylmalonic-Adipicaciduria
    • GA II
    • Glutaric Acidemia II
    • Glutaric Aciduria II
  • Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
    • Glycosylphosphatidylinositol Biosynthesis Defect 3
  • Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
    • Epileptic Encephalopathy, Early Infantile, 20
    • Glycosylphosphatidylinositol Biosynthesis Defect 4
  • Multiple Endocrine Neoplasia, Type IIB
    • Ganglioneuromatosis Of The Alimentary Tract, Included
    • Mucosal Neuroma Syndrome
    • Multiple Endocrine Neoplasia, Type III, Formerly
    • Neuromata, Mucosal, With Endocrine Tumors
    • Wagenmann-Froboese Syndrome
  • Multiple Mitochondrial Dysfunctions Syndrome 1
    • Mmds
  • Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
  • Multiple Pterygium Syndrome, Lethal Type
    • Pterygium Syndrome, Multiple, Lethal Type
  • Multiple Sulfatase Deficiency
    • Mucosulfatidosis
    • Sulfatidosis, Juvenile, Austin Type
  • Multiple Synostoses Syndrome 3
  • Muscular Dystrophy, Becker Type
    • Becker Muscular Dystrophy
    • Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type
  • Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
    • Myopathy, Congenital, Due To Integrin Alpha-7 Deficiency
  • Muscular Dystrophy, Congenital, LMNA-Related
  • Muscular Dystrophy, Duchenne Type
    • Duchenne Muscular Dystrophy
    • Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type
  • Muscular Dystrophy, Limb-Girdle, Type 1B
    • Limb Girdle Muscular Dystrophy
  • Muscular Dystrophy, Limb-Girdle, Type 2H
    • Muscular Dystrophy, Hutterite Type
    • Sarcotubular Myopathy
  • Muscular Dystrophy, Limb-Girdle, Type 2Q
  • Muscular Dystrophy, Limb-Girdle, Type 2S
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
    • Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
    • COD-MD Syndrome
    • Hard Syndrome
    • Hydrocephalus, Agyria, And Retinal Dysplasia
    • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, POMT1-Related
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
    • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, TMEM5-Related
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
    • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, B3GALNT2-Related
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
    • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, GMPPB-Related
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
    • Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, POMT2-related
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
    • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, POMGNT1-Related
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
    • Fukuyama Congenital Muscular Dystrophy
    • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, FKTN-Related
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
    • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, FKRP-Related
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
    • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Large-Related
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
    • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, ISPD-Related
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
    • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Gtdc2-Related
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 1
    • Muscular Dystrophy, Congenital, POMT1-Related
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 2
    • Muscular Dystrophy, Congenital, POMT2-Related
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 3
    • Muscular Dystrophy, Congenital, POMGNT1-Related
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 6
    • Muscular Dystrophy, Congenital, Large-Related
    • Muscular Dystrophy, Congenital, Type 1d
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Mental Retardation), Type B, 5
    • Muscular Dystrophy, Congenital, 1c
    • Muscular Dystrophy, Congenital, Fkrp-Related
  • Muscular Dystrophy-Dystroglycanopathy (Congenital Without Mental Retardation), Type B, 4
    • Muscular Dystrophy, Congenital, FKTN-Related
  • Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
    • Muscular Dystrophy, Limb-Girdle, Type 2K
  • Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
    • Muscular Dystrophy, Limb-Girdle, Type 2N
    • Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, POMT2-Related
  • Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
    • Muscular Dystrophy, Limb-Girdle, Type 2o
    • Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, POMGNT1-Related
  • Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
    • Muscular Dystrophy, Limb-Girdle, Type 2M
  • Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
    • Muscular Dystrophy, Limb-Girdle, Type 2i
    • Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related
  • Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
  • Myasthenic Syndrome, Congenital, 13
    • Myasthenic Syndrome, Congenital, With Tubular Aggregates 2
  • Myhre Syndrome
    • Growth-Mental Deficiency Syndrome Of Myhre
    • Laryngotracheal Stenosis, Arthropathy, Prognathism, And Short Stature
  • Myoclonic Epilepsy Associated With Ragged-Red Fibers
    • MERRF Syndrome
  • Myoclonic Epilepsy Of Unverricht And Lundborg
    • Baltic Myoclonic Epilepsy
    • Epilepsy, Progressive Myoclonic 1
    • Progressive Myoclonic Epilepsy
  • Myoclonic Epilepsy, Familial Infantile
  • Myofibromatosis, Infantile, 1
    • Fibromatosis, Congenital Generalized
    • Myofibromatosis, Juvenile
  • Myopathy With Extrapyramidal Signs
  • Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
    • Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset, Mild Variant, Included
  • Myopathy, Centronuclear, 1
    • Myopathy, Centronuclear, Autosomal Dominant
    • Myotubular Myopathy, Autosomal Dominant
  • Myopathy, Centronuclear, 2
    • Myopathy, Centronuclear, Autosomal Recessive
    • Myotubular Myopathy, Autosomal Recessive
  • Myopathy, Centronuclear, 4
  • Myopathy, Centronuclear, 5
  • Myopathy, Centronuclear, X-Linked
    • Myopathy, Centronuclear
    • Myotubular Myopathy 1
    • Myotubular Myopathy, X-Linked
  • Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay
    • Mitochondrial Complex Deficiency, Combined
    • Myopathy With Cataract And Combined Respiratory Chain Deficiency
  • Myopathy, Myofibrillar, 4
  • Myopathy, Tubular Aggregate, 1
    • Myopathy, Tubular Aggregate|Tubular Aggregate Myopathy
  • Myopia 23, Autosomal Recessive
  • Myotonic Dystrophy type 1
    • Dystrophia Myotonica
    • Dystrophia Myotonica 1
    • Steinert Disease
  • Myotubularin-Related Protein 1
  • N-Acetylglutamate Synthase Deficiency
    • Hyperammonemia Due To N-Acetylglutamate Synthetase Deficiency
    • N-Acetylglutamate Synthetase Deficiency
    • NAGS Deficiency
  • Nail Disorder, Nonsyndromic Congenital, 10
    • Claw-Shaped Nails
    • Onychauxis, Hyponychia, And Onycholysis
  • Nail Disorder, Nonsyndromic Congenital, 4
    • Anonychia Totalis
    • Anonychia/Hyponychia Congenita
  • Nail-Patella Syndrome
    • Fong Disease
    • Nps1
    • Onychoosteodysplasia
    • Turner-Kieser Syndrome
  • Nance-Horan Syndrome
    • Cataract, X-Linked, With Hutchinsonian Teeth
    • Cataract-Dental Syndrome
    • Mesiodens-Cataract Syndrome
  • Nemaline Myopathy 2
  • Nemaline Myopathy 6
  • Nemaline Myopathy 7
  • Nemaline Myopathy 8
  • Nephronophthisis 1
    • Nephronophthisis, Familial Juvenile
    • Nph1
  • Nephronophthisis 11
  • Nephronophthisis 18
  • Nephronophthisis 3
  • Nephronophthisis 4
  • Nephronophthisis 9
  • Nephronophthisis-Like Nephropathy 1
  • Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
  • Nephrotic Syndrome, Type 1
    • Finnish Congenital Nephrosis
    • Nephrotic Syndrome, Congenital
  • Nephrotic Syndrome, Type 2
    • Nephrotic Syndrome, Idiopathic
    • Nephrotic Syndrome, Idiopathic, Included
    • Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive
  • Nephrotic Syndrome, Type 3
    • Nephrotic Syndrome, Early-Onset, Type 3
  • Nestor-Guillermo Progeria Syndrome
    • Progeria Syndrome, Childhood-Onset, With Osteolysis
  • Neu-Laxova Syndrome 1
    • Neu-Laxova Syndrome
  • Neu-Laxova Syndrome 2
    • 0
  • Neural Tube Defects, Susceptibility To
    • Spina Bifida, Included
  • Neuraminidase Deficiency
    • Glycoprotein Neuraminidase Deficiency
    • Lipomucopolysaccharidosis
    • ML I
    • Mucolipidosis I
    • NEU Deficiency
    • NEU1 Deficiency
    • NEUG Deficiency
    • Neuraminidase 1 Deficiency
    • Sialidase Deficiency
    • Sialidosis, Type II
  • Neuroblastoma, Susceptibility To, 2
  • Neurodegeneration Due To Cerebral Folate Transport Deficiency
  • Neurodegeneration With Brain Iron Accumulation 2A
    • Neuroaxonal Dystrophy, Infantile
    • Neurodegeneration, PLA2G6-Associated
    • Seitelberger Disease
  • Neurodegeneration With Brain Iron Accumulation 2B
    • Neuroaxonal Dystrophy, Atypical
    • Neurodegeneration With Brain Iron Accumulation, PLA2G6-Related
  • Neurodegeneration With Brain Iron Accumulation 3
    • Basal Ganglia Disease, Adult-Onset
    • Neuroferritinopathy
  • Neurodegeneration With Brain Iron Accumulation 5
    • Beta-Propeller Protein-Associated Neurodegeneration
    • Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood
  • Neurodegeneration With Brain Iron Accumulation 6
    • 0
  • Neurofibromatosis, Familial Spinal
  • Neurofibromatosis, Type I
    • Neurofibromatosis
    • Neurofibromatosis, Type I, With Glioma, Included
    • Neurofibromatosis, Type I, With Leukemia, Included
    • Neurofibromin, Included
    • Von Recklinghausen Disease
  • Neurofibromatosis-Noonan Syndrome
    • Neurofibromatosis With Noonan Phenotype
    • Noonan-Neurofibromatosis Syndrome
  • Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
    • Gamstorp-Wohlfart Syndrome
    • Myokymia, Myotonia, And Muscle Wasting
  • Neuropathy, Hereditary Sensory and Autonomic, Type IC
    • Neuropathy, Hereditary Sensory, Type IC
  • Neuropathy, Hereditary Sensory and Autonomic, Type IIB
  • Neuropathy, Hereditary Sensory and Autonomic, Type VII
    • Insensitivity to Pain, Congenital, With Gastrointestinal Dysfunction and Hyperhidrosis
  • Neuropathy, Hereditary Sensory, Type IIC
  • Neutral Lipid Storage Disease With Myopathy
    • Neutral Lipid Storage Disease Without Ichthyosis
  • Neutropenia, Severe Congenital, 3, Autosomal Recessive
    • Agranulocytosis, Infantile
    • Kostmann Disease
  • Neutropenia, Severe Congenital, 6, Autosomal Recessive
    • 0
  • Nicolaides-Baraitser Syndrome
    • Sparse Hair And Mental Retardation
  • Niemann-Pick Disease, Type B
  • Niemann-Pick Disease, Type C1
    • Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia
    • Niemann-Pick Disease With Cholesterol Esterification Block
    • Niemann-Pick Disease Without Sphingomyelinase Deficiency
    • Niemann-Pick Disease, Chronic Neuronopathic Form
    • Niemann-Pick Disease, Nova Scotian Type, Included
    • Niemann-Pick Disease, Subacute Juvenile Form
    • Niemann-Pick Disease, Type C
    • Niemann-Pick Disease, Type D, Included
  • Niemann-Pick Disease, Type C2
  • Night Blindness, Congenital Stationary, Type 1A
    • Csnb, Complete, X-Linked
    • Hemeralopia-Myopia
    • Myopia-Night Blindness
    • Night Blindness, Congenital Stationary, With Myopia
    • Nyctalopia, Included
  • Night Blindness, Congenital Stationary, Type 1B
    • Night Blindness, Congenital Stationary, Complete, Autosomal Recessive|Csnb, Complete, Autosomal Recessive
  • Night Blindness, Congenital Stationary, Type 1C
    • CSNB, Complete, Autosomal Recessive
  • Night Blindness, Congenital Stationary, Type 1D
    • Csnb, Complete, Autosomal Recessive
  • Night Blindness, Congenital Stationary, Type 1E
    • CSNB, Complete, Autosomal Recessive
    • Night Blindness, Congenital Stationary (Complete), 1E, Autosomal Recessive
  • Night Blindness, Congenital Stationary, Type 1F
  • Nijmegen Breakage Syndrome
    • Ataxia-Telangiectasia Variant V1
    • Immunodeficiency, Microcephaly, And Chromosomal Instability
    • Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies
    • Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence
    • Seemanova Syndrome II
  • Nijmegen Breakage Syndrome-Like Disorder
    • Microcephaly And Spontaneous Chromosome Instability Without Immunodeficiency
    • NBS-Like Disorder
    • RAD50 Deficiency
  • Noonan Syndrome 1
    • Female Pseudo-Turner Syndrome
    • Male Turner Syndrome
    • Noonan Syndrome
    • Pterygium Colli Syndrome, Included
    • Turner Phenotype With Normal Karyotype
  • Noonan Syndrome 3
  • Noonan Syndrome 5
  • Noonan Syndrome 6
  • Noonan Syndrome 7
  • Noonan Syndrome 8
  • Noonan Syndrome-Like Disorder With Loose Anagen Hair
    • Tosti Syndrome
  • Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
    • CBL Mutation-Associated Syndrome
    • CBL Syndrome
  • Norrie Disease
    • Atrophia Bulborum Hereditaria
    • Episkopi Blindness
    • Exudative Retinopathy, X-Linked, Included
    • Nd
    • Norrie Disease Protein, Included
    • Norrin, Included
    • Pseudoglioma
  • Nystagmus 1, Congenital, X-Linked
    • Nystagmus 1, Infantile, X-Linked
    • Nystagmus, Congenital Motor, 1
    • Nystagmus, Infantile Idiopathic, Formerly
  • Occipital Horn Syndrome
    • Cutis Laxa, X-Linked
    • Ehlers-Danlos Syndrome, Occipital Horn Type
  • Oculoauricular Syndrome
    • Microphthalmia, Microcornea, Anterior Segment Dysgenesis, Cataract, Ocular Coloboma, Retinal Pigment Epithelium Abnormalities, Rod-Cone Dystrophy, And Anomalies Of The External Ear
  • Oculodentodigital Dysplasia
    • Oculodentoosseous Dysplasia
    • Odd Syndrome
  • Oculodentodigital Dysplasia, Autosomal Recessive
    • Oculodentoosseous Dysplasia, Autosomal Recessive
    • ODDD, Autosomal Recessive
    • ODOD, Autosomal Recessive
  • Ogden Syndrome
    • N-Terminal Acetyltransferase Deficiency
  • Omodysplasia 1
    • Micromelic Dysplasia, Congenital, With Dislocation Of Radius
    • Omodysplasia, Autosomal Recessive
    • Omodysplasia, Generalized Form
  • Opitz Gbbb Syndrome, Type I
    • Opitz Gbbb Syndrome, X-Linked|Opitz Syndrome|Opitz Syndrome, X-Linked|Opitz-G Syndrome, Type I|Opitz Bbbg Syndrome, Type I|Hypertelorism With Esophageal Abnormality And Hypospadias|Hypertelorism-Hypospadias Syndrome|Telecanthus-Hypospadias Syndrome
  • Opitz-Kaveggia Syndrome
    • Fg Syndrome
    • Fg Syndrome 1
    • Keller Syndrome
    • Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum
  • Opsismodysplasia
  • Optic Nerve Hypoplasia, Bilateral
  • Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
    • Ornithine Carbamoyltransferase Deficiency
    • Otc Deficiency
    • Valproate Sensitivity, Included
  • Orofacial Cleft 10
    • Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 10
  • Orofacial Cleft 11
    • Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 11
  • Orofacial Cleft 5
    • Cleft Lip With or Without Cleft Palate, Nonsyndromic, 5
  • Orofaciodigital Syndrome I
    • Ofds I
    • Oral-Facial-Digital Syndrome, Type I
    • Papillon-Leage And Psaume Syndrome
  • Orofaciodigital Syndrome IV
    • Baraitser-Burn Syndrome
    • Mohr-Majewski Syndrome
    • OFD Syndrome With Tibial Defects
    • OFD Syndrome, Baraitser-Burn Type
    • Oral-Facial-Digital Syndrome, Type IV
  • Orofaciodigital Syndrome V
  • Orofaciodigital Syndrome XIV
  • Orotic Aciduria
    • Oprt And Odc Deficiency
    • Orotate Phosphoribosyltransferase And Orotidylic Decarboxylase Deficiency
    • Orotic Aciduria I
    • Orotic Aciduria Without Megaloblastic Anemia, Included
    • Orotidylic Pyrophosphorylase And Orotidylic Decarboxylase Deficiency
    • Ump Synthase Deficiency
    • Umps Deficiency
    • Uridine Monophosphate Synthase Deficiency
  • Osteoarthritis With Mild Chondrodysplasia
  • Osteogenesis Imperfecta, Type I
    • Oi, Type I
    • Osteogenesis Imperfecta Tarda
    • Osteogenesis Imperfecta With Blue Sclerae
  • Osteogenesis Imperfecta, Type II
    • Oi, Type II
    • Osteogenesis Imperfecta Congenita
    • Osteogenesis Imperfecta Congenita, Neonatal Lethal Form
    • Vrolik Type Of Osteogenesis Imperfecta
  • Osteogenesis Imperfecta, Type III
    • Oi, Type III
    • Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae
  • Osteogenesis Imperfecta, Type V
    • OI, Type V
  • Osteogenesis Imperfecta, Type VIII
    • Oi, Type VIII
  • Osteogenesis Imperfecta, Type XV
    • OI, Type XV
  • Osteoglophonic Dysplasia
  • Osteopathia Striata With Cranial Sclerosis
    • Hyperostosis Generalisata With Striations
  • Osteopetrosis, Autosomal Dominant 1
    • Osteopetrosis, Autosomal Dominant, Type I
  • Osteopetrosis, Autosomal Recessive 3
    • Carbonic Anhydrase II Deficiency
    • Guibaud-Vainsel Syndrome
    • Marble Brain Disease
    • Osteopetrosis With Renal Tubular Acidosis
  • Osteopetrosis, Autosomal Recessive 4
    • Osteopetrosis, Infantile Malignant 2
  • Osteoporosis-Pseudoglioma Syndrome
    • Osteogenesis Imperfecta, Ocular Form
  • Otofaciocervical Syndrome 1
  • Otopalatodigital Syndrome, Type I
    • Opd Syndrome, Type 1
  • Otopalatodigital Syndrome, Type II
    • Cranioorodigital Syndrome
    • Faciopalatoosseous Syndrome
    • OPD II Syndrome
  • Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
    • Stickler Syndrome, Nonocular Type
    • Stickler Syndrome, Type III
  • Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
    • Chondrodystrophy With Sensorineural Deafness
    • Nance-Insley Syndrome
    • Nance-Sweeney Chondrodysplasia
    • Otospondylomegaepiphyseal Dysplasia
  • Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques
    • Olmsted Syndrome
  • Pancreatic Agenesis 2
    • Pancreatic Hypoplasia, Congenital 2
  • Pancreatic And Cerebellar Agenesis
    • Diabetes Mellitus, Permanent Neonatal, With Cerebellar Agenesis
  • Papillorenal Syndrome
    • Cakut With Or Without Ocular Abnormalities
    • Coloboma Of Optic Nerve With Renal Disease
    • Congenital Anomalies Of The Kidney And Urinary Tract With Or Without Ocular Abnormalities
    • Optic Coloboma, Vesicoureteral Reflux, And Renal Anomalies
    • Optic Nerve Coloboma With Renal Disease
    • Renal-Coloboma Syndrome
    • Renal-Coloboma Syndrome With Macular Abnormalities
  • Paramyotonia Congenita Of Von Eulenburg
    • Paralysis Periodica Paramyotonia, Included
    • Paralysis Periodica Paramyotonica
    • Paramyotonia Congenita Without Cold Paralysis, Included
  • Parietal Foramina 2
  • Parietal Foramina With Cleidocranial Dysplasia
  • Parkes Weber Syndrome
    • Pkws
  • Parkinsonism-Dystonia, Infantile
  • Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
    • Epilepsy, Generalized, With Paroxysmal Dyskinesia
    • Generalized Epilepsy And Paroxysmal Dyskinesia
  • Partington X-Linked Mental Retardation Syndrome
    • Mental Retardation, X-Linked, Syndromic 1
    • Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures
    • Partington Syndrome
  • Peeling Skin Syndrome 4
    • Ichthyosis Bullosa Of Siemens-Like
    • Ichthyosis, Exfoliative, Autosomal Recessive
  • Pelizaeus-Merzbacher Disease
  • Periventricular Heterotopia With Microcephaly, Autosomal Recessive
    • Heterotopia, Periventricular, Autosomal Recessive
    • Periventricular Nodular Heterotopia 2
  • Periventricular Nodular Heterotopia 1
    • Heterotopia, Familial Nodular
    • Heterotopia, Periventricular Nodular, With Frontometaphyseal Dysplasia, Included
    • Heterotopia, Periventricular, X-Linked Dominant
    • Nodular Heterotopia, Bilateral Periventricular
    • Periventricular Nodular Heterotopia 1
  • Periventricular Nodular Heterotopia 6
  • Perlman Syndrome
    • Nephroblastomatosis, Fetal Ascites, Macrosomia, And Wilms Tumor
    • Renal Hamartomas, Nephroblastomatosis, And Fetal Gigantism
  • Peroxisomal Acyl-CoA Oxidase Deficiency
    • Pseudoneonatal Adrenoleukodystrophy
    • Straight-Chain Acyl-CoA Oxidase Deficiency
  • Peroxisomal Fatty Acyl-CoA Reductase 1 Disorder
    • 0
  • Peroxisome Biogenesis Disorder 1a (Zellweger)
    • Cerebrohepatorenal Syndrome
    • Zellweger syndrome
  • Peroxisome Biogenesis Disorder 1b
    • Infantile Phytanic Acid Storage Disease
    • Peroxisome Biogenesis Disorder (NALD/IRD)|Adrenoleukodystrophy, Autosomal Neonatal
    • Peroxisome Biogenesis Disorder (Neonatal Adrenoleukodystrophy/Infantile Refsum Disease)
    • Refsum Disease, Infantile
  • Peroxisome Biogenesis Disorder 2b
  • Peroxisome Biogenesis Disorder 3a (Zellweger)
  • Peroxisome Biogenesis Disorder 3b
  • Peroxisome Biogenesis Disorder 4a (Zellweger)
  • Peroxisome Biogenesis Disorder 4b
  • Peroxisome Biogenesis Disorder 6a (Zellweger)
  • Peroxisome Biogenesis Disorder 6b
  • Peroxisome Biogenesis Disorder 7a (Zellweger)
  • Peroxisome Biogenesis Disorder 7b
  • Peroxisome Biogenesis Disorder 9b
    • Peroxisome Biogenesis Disorder, PEX7-Related, Atypical
    • Refsum Disease, Adult, 2
  • Peroxisome Biogenesis Factor 13
    • Peroxin 13
  • Peroxisome Biogenesis Factor 14
    • Nfe2-Associated Polypeptide 2
    • Peroxin 14
  • Peroxisome Biogenesis Factor 16
    • Peroxin 16
  • Peroxisome Biogenesis Factor 19
    • D1s2223e
    • Housekeeping Gene 33
    • Housekeeping Gene, 33-Kd
    • Peroxin 19
    • Peroxisomal Farnesylated Protein
  • Peroxisome Biogenesis Factor 3
    • Peroxin 3
  • Perrault Syndrome 1
    • Gonadal Dysgenesis, XX Type, With Deafness
    • Ovarian Dysgenesis With Sensorineural Deafness
  • Perrault Syndrome 3
    • Deafness, Autosomal Recessive 81
  • Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
    • Persistent Fetal Vasculature
    • Retinal Nonattachment And Falciform Detachment
    • Retinal Nonattachment, Nonsyndromic Congenital
  • Pettigrew Syndrome
    • Mental Retardation, X-Linked 59
    • Mental Retardation, X-Linked, Syndromic 21
    • Mental Retardation, X-Linked, Syndromic 5
    • Mental Retardation, X-Linked, Syndromic, Fried Type
    • Mental Retardation, X-Linked, With Dandy-Walker Malformation, Basal Ganglia Disease, And Seizures
  • Pfeiffer Syndrome
    • Acrocephalosyndactyly, Type V
    • Acs V
    • Craniofacial-Skeletal-Dermatologic Dysplasia, Included
    • Noack Syndrome, Included
  • Phelan-Mcdermid Syndrome
    • Chromosome 22q13.3 Deletion Syndrome
    • Telomeric 22q13 Monosomy Syndrome
  • Phenylketonuria
    • Folling Disease
    • Hyperphenylalaninemia, Mild, Included
    • Oligophrenia Phenylpyruvica
    • Pah Deficiency
    • Phenylalanine Hydroxylase Deficiency
    • Phenylalanine Hydroxylase, Included
    • Phenylalaninemia, Included
    • Pku
    • Pku1, Included
  • Phosphoglycerate Dehydrogenase Deficiency
    • Phgdh Deficiency
  • Phosphoglycerate Kinase 1 Deficiency
    • PGK1 Deficiency
  • Phosphoserine Aminotransferase Deficiency
    • Psat Deficiency
  • Phosphoserine Phosphatase Deficiency
  • Piebald Trait
    • Piebaldism
  • Pitt-Hopkins Syndrome
    • Encephalopathy, Severe Epileptic, With Autonomic Dysfunction
    • Mental Retardation, Syndromal, With Intermittent Hyperventilation
  • Pitt-Hopkins-Like Syndrome 1
    • CDFE Syndrome
    • Cortical Dysplasia-Focal Epilepsy Syndrome
  • Pitt-Hopkins-Like Syndrome 2
  • Pituitary Hormone Deficiency, Combined, 1
  • Pituitary Hormone Deficiency, Combined, 2
    • Ateliotic Dwarfism With Hypogonadism
    • Hanhart Dwarfism
    • Panhypopituitarism
    • Pituitary Dwarfism III
    • Pituitary Hormone Deficiency, Combined
  • Pituitary Hormone Deficiency, Combined, 3
    • Deafness, Sensorineural, With Pituitary Dwarfism
    • Pituitary Hormone Deficiency, Combined, With Rigid Cervical Spine
  • Pityriasis Rubra Pilaris
  • Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
    • Lethal Short-Limbed Platyspondylic Dwarfism, Torrance Type
    • Thanatophoric Dysplasia, Torrance Variant
  • Polycystic Kidney Disease 4 With or Without Hepatic Disease
    • Caroli Disease, Included
    • Hepatic Fibrosis, Congenital, Included
    • Pkd3, Formerly
    • Polycystic Kidney And Hepatic Disease 1
    • Polycystic Kidney Disease, Autosomal Recessive
    • Polycystic Kidney Disease, Infantile, Type I
    • Renal-Hepatic-Pancreatic Dysplasia, Included
  • Polydactyly, Preaxial II
    • Polydactyly Of Triphalangeal Thumb
    • Triphalangeal Thumb-Polydactyly Syndrome
  • Polymicrogyria, Bilateral Frontoparietal
    • Cerebellar Ataxia With Neuronal Migration Defect
  • Pontocerebellar Hypoplasia, Type 10
  • Pontocerebellar Hypoplasia, Type 2a
    • PCH2
    • Pontocerebellar Hypoplasia With Progressive Cerebral Atrophy
    • Volendam Neurodegenerative Disease
  • Pontocerebellar Hypoplasia, Type 2b
  • Pontocerebellar Hypoplasia, Type 2c
  • Pontocerebellar Hypoplasia, Type 4
    • CPS I Deficiency
  • Pontocerebellar Hypoplasia, Type 5
    • Olivopontocerebellar Hypoplasia, Fetal-Onset
  • Pontocerebellar Hypoplasia, Type 6
    • Encephalopathy, Fatal Infantile, With Mitochondrial Respiratory Chain Defects
  • Pontocerebellar Hypoplasia, Type 8
  • Pontocerebellar Hypoplasia, Type 9
  • Popliteal Pterygium Syndrome
    • Cleft Lip/palate, Paramedian Mucous Cysts Of The Lower Lip, Popliteal Pterygium, Digital And Genital Anomalies
    • Faciogenitopopliteal Syndrome
  • Popliteal Pterygium Syndrome, Lethal Type
    • Bartsocas-Papas Syndrome
    • Multiple Pterygium Syndrome, Aslan Type
    • Pterygium, Popliteal, Lethal Type
  • Porencephaly 1
    • Hemiplegia, Infantile, With Porencephaly Porencephaly, Type 1
    • Porencephaly, Type 1
    • Porencephaly, Type 1, Autosomal Dominant
  • Porencephaly 2
  • Poretti-Boltshauser syndrome
    • 0
  • Porphyria, Congenital Erythropoietic
    • Gunther Disease
    • Uroporphyrinogen III Synthase, Deficiency Of
    • Uros Deficiency
  • Postaxial Acrofacial Dysostosis
    • Genee-Wiedemann Syndrome
    • Miller Syndrome
  • Posterior Column Ataxia With Retinitis Pigmentosa
  • Potocki-Shaffer Syndrome
    • Chromosome 11p11.2 Deletion Syndrome
    • Defect11 Syndrome
    • Proximal 11p Deletion Syndrome
    • Pss
  • Prader-Willi Syndrome
    • Prader-Labhart-Willi Syndrome
    • Prader-Willi Syndrome Chromosome Region, Included
    • Prader-Willi-Like Syndrome Associated With Chromosome 6, Included
  • Premature Ovarian Failure 1
    • Hypergonadotrophic Ovarian Failure, X-Linked
    • Ovarian Failure, Premature
    • Premature Ovarian Failure, X-LInked
  • Primary Aldosteronism, Seizures, And Neurologic Abnormalities
  • Prolidase Deficiency
  • Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
    • Encephaloclastic Proliferative Vasculopathy
    • Hydranencephaly, Fowler Type
    • Hydrocephaly/Hydranencephaly Due To Cerebral Vasculopathy
  • Propionic Acidaemia
    • Glycinemia, Ketotic
    • Hyperglycinemia With Ketoacidosis And Leukopenia
    • Ketotic Hyperglycinemia
    • PCC Deficiency
    • Propionyl-CoA Carboxylase Deficiency
  • Proteus Syndrome
    • Gigantism, Partial, Of Hands And Feet, Nevi, Hemihypertrophy, And Macrocephaly
  • Pseudoachondroplasia
    • Pseudoachondroplastic Dysplasia
    • Spondyloepiphyseal Dysplasia, Pseudoachondroplastic
  • Pseudohypoparathyroidism, Type IA
    • Albright Hereditary Osteodystrophy
    • Pseudohypoparathyroidism, Type IA
    • Pseudohypoparathyroidism, Type IC
    • Pseudopseudohypoparathyroidism
  • Pseudohypoparathyroidism, Type IB
  • Pseudopseudohypoparathyroidism
  • Psychomotor Retardation, Epilepsy, And Craniofacial Dysmorphism
  • Pycnodysostosis
    • Pyknodysostosis
  • Pyruvate Dehydrogenase E1-Alpha Deficiency
    • Ataxia With Lactic Acidosis I
    • Ataxia, Intermittent, With Abnormal Pyruvate Metabolism
    • Lactic Acidemia, Thiamine-Responsive, Included
    • Pdh Deficiency|Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency
    • Pyruvate Decarboxylase Deficiency
    • Pyruvate Dehydrogenase Complex Deficiency
  • Pyruvate Dehydrogenase E3-Binding Protein Deficiency
    • Lactic Acidemia Due To Defect In Lipoyl-Containing Component X Of The Pyruvate Dehydrogenase Complex
  • Raine Syndrome
    • Osteosclerotic Bone Dysplasia, Lethal
  • Rapadilino Syndrome
  • Rapp-Hodgkin Syndrome
    • Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/palate
  • Refsum Disease, Classic
    • Hereditary Motor And Sensory Neuropathy IV
    • Heredopathia Atactica Polyneuritiformis
    • Phytanic Acid Oxidase Deficiency
    • Refsum Disease, Adult, 1
  • Renal Cysts And Diabetes Syndrome
    • Fjhn, Atypical
    • Glomerulocystic Kidney Disease, Hypoplastic Type
    • Glomerulocystic Kidney, Familial Hypoplastic
    • Hyperuricemic Nephropathy, Familial Juvenile, Atypical
    • Maturity-Onset Diabetes Of The Young, Type V
  • Renal Hypodysplasia/Aplasia 1
    • Hereditary Renal Aplasia
    • Renal Adysplasia
    • Renal Agenesis
    • Renal Aplasia
  • Renal Tubular Acidosis, Distal, Autosomal Dominant
    • Renal Tubular Acidosis I
    • Rta, Classic Type
    • Rta, Distal Type, Autosomal Dominan
    • Rta, Gradient Type
  • Renal Tubular Acidosis, Distal, Autosomal Recessive
    • Renal Tubular Acidosis, Autosomal Recessive, With Preserved Hearing
    • RTA, Distal, Autosomal Recessive
  • Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
  • Renal-Hepatic-Pancreatic Dysplasia 1
  • Renal-Hepatic-Pancreatic Dysplasia 2
  • Renpenning Syndrome 1
    • Golabi-Ito-Hall Syndrome
    • Mental Retardation, X-Linked 55
    • Mental Retardation, X-Linked, Renpenning Type
    • Mental Retardation, X-Linked, Syndromic 3
    • Mental Retardation, X-Linked, Syndromic 8
    • Mental Retardation, X-Linked, With Spastic Diplegia
    • Sutherland-Haan X-Linked Mental Retardation Syndrome
  • Restrictive Dermopathy, Lethal
    • Fetal Hypokinesia Sequence Due To Restrictive Dermopathy
    • Hyperkeratosis-Contracture Syndrome
    • Tight Skin Contracture Syndrome, Lethal
  • Reticular Dysgenesis
    • Aleukocytosis
    • Congenital Aleukia
    • De Vaal Disease
    • Hematopoietic Hypoplasia, Generalized
    • Reticular Dysgenesia
    • Severe Combined Immunodeficiency With Leukopenia
  • Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
  • Retinal Cone Dystrophy 3A
    • Achromatopsia 6, Included
    • Cone Dystrophy With Night Blindness And Supernormal Rod Responses, Pde6h-Related
  • Retinitis Pigmentosa 12
    • Retinitis Pigmentosa With Or Without Paraarteriolar Preservation Of Retinal Pigment Epithelium
    • RP With Or Without PPRPE
    • RP With Or Without Preserved Paraarteriole Retinal Pigment Epithelium
  • Retinitis Pigmentosa 28
  • Retinitis Pigmentosa 51
  • Retinitis Pigmentosa 54
  • Retinitis Pigmentosa 55
  • Retinitis Pigmentosa 57
  • Rett Syndrome
    • Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use
    • Rett Syndrome, Atypical, Cdkl5-Related, Included
    • Rett Syndrome, Preserved Speech Variant, Included
    • Rts
  • Rett Syndrome, Congenital Variant
  • Rhabdoid Tumor Predisposition Syndrome 1
    • Brain Tumor, Posterior Fossa, of Infancy, Familial
  • Rhabdoid Tumor Predisposition Syndrome 2
  • Rhizomelic Chondrodysplasia Punctata, Type 1
    • Chondrodysplasia Punctata, Rhizomelic Form
    • Chondrodystrophia Calcificans Punctata
  • Rhizomelic Chondrodysplasia Punctata, Type 2
    • Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
    • Dhapat Deficiency
    • Dihydroxyacetonephosphate Acyltransferase Deficiency
    • Glyceronephosphate O-Acyltransferase Deficiency
    • Gnpat Deficiency
    • Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency
  • Rhizomelic Chondrodysplasia Punctata, Type 3
    • Agps Deficiency
    • Alkyldihydroxyacetonephosphate Synthase Deficiency
    • Alkylglycerone-Phosphate Synthase Deficiency
  • Riddle Syndrome
    • Radiosensitivity, Immunodeficiency, Dysmorphic Features, And Learning Difficulties
  • Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
  • Ring Dermoid Of Cornea
  • Ritscher-Schinzel Syndrome 2
    • 0
  • Roberts Syndrome
    • Long Bone Deficiencies Associated With Cleft Lip-Palate
  • Robinow Syndrome, Autosomal Dominant
    • Acral Dysostosis With Facial And Genital Abnormalities
    • Fetal Face Syndrome
    • Robinow Dwarfism
  • Robinow Syndrome, Autosomal Recessive
    • Costovertebral Segmentation Defect With Mesomelia, Formerly
    • Covesdem Syndrome, Formerly
  • Rothmund-Thomson Syndrome
    • Poikiloderma Atrophicans And Cataract
  • Rubinstein-Taybi Syndrome 1
    • Broad Thumb-Hallux Syndrome
    • Broad Thumbs And Great Toes, Characteristic Facies, And Mental Retardation
    • Rubinstein Syndrome
    • Rubinstein-Taybi Syndrome
  • Rubinstein-Taybi Syndrome 2
  • Ruijs-Aalfs Syndrome
    • 0
  • Saethre-Chotzen Syndrome
    • Acrocephalosyndactyly, Type III
    • Acrocephaly, Skull Asymmetry, And Mild Syndactyly
    • Acs III
    • Blepharophimosis, Epicanthus Inversus, And Ptosis 3, Formerly, Included
    • Chotzen Syndrome
    • Saethre-Chotzen Syndrome With Eyelid Anomalies, Included
  • Salih Myopathy
    • Myopathy, Early-Onset, With Fatal Cardiomyopathy
  • Salla Disease
    • Sialuria, Finnish Type
  • Salt And Pepper Developmental Regression Syndrome
    • Amish Infantile Epilepsy Syndrome
    • Epilepsy Syndrome, Infantile-Onset Symptomatic
    • GM3 Synthase Deficiency
    • Salt And Pepper Mental Retardation Syndrome
  • Sandhoff Disease
    • Gm2-Gangliosidosis, Type II
    • Hexosaminidases A And B Deficiency
  • SC Phocomelia Syndrome
    • SC Pseudothalidomide Syndrome
  • Scalp-Ear-Nipple Syndrome
    • Finlay-Marks Syndrome
    • Sen Syndrome
  • Scaphocephaly, Maxillary Retrusion, And Mental Retardation
  • Schimke Immunoosseous Dysplasia
    • Immunoosseous Dysplasia, Schimke Type
  • Schindler Disease, Type I
    • Alpha-N-Acetylgalactosaminidase Deficiency, Type I
    • Naga Deficiency, Type I
    • Neuroaxonal Dystrophy, Schindler Type
  • Schinzel-Giedion Midface Retraction Syndrome
    • Sgs
  • Schizencephaly
  • Schneckenbecken Dysplasia
    • Chondrodysplasia, Lethal Neonatal, With Snail-Like Pelvis
  • Schuss-Hoeijmakers Syndrome
    • Mental Retardation, Autosomal Dominant 17
  • Schwartz-Jampel Syndrome, Type 1
    • Chondrodystrophic Myotonia
    • Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities
    • Schwartz-Jampel Syndrome
    • Schwartz-Jampel-Aberfeld Syndrome
    • Sja Syndrome
  • Sebastian Syndrome
    • Macrothrombocytopenia With Dispersed Leukocytic Inclusions
    • Sebastian Platelet Syndrome
  • Seckel Syndrome 1
    • Bird-Headed Dwarfism
    • Microcephalic Primordial Dwarfism I
    • Nanocephalic Dwarfism
    • Seckel-Type Dwarfism
  • Seckel Syndrome 4
  • Seckel Syndrome 5
  • Seckel Syndrome 6
  • Seckel Syndrome 8
  • Seizures, Benign Familial Neonatal, 1
    • Epilepsy, Benign Neonatal, 1, and/or Myokymia, included
    • Seizures, Benign Familial Neonatal, 1, and/or Myokymia, included
  • Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
    • East Syndrome
    • Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy
    • Sesame Syndrome
  • Sengers Syndrome
    • Mitochondrial Dna Depletion Syndrome 10 (Cardiomyopathic Type)|Cardiomyopathy And Cataract
  • Senior-Loken Syndrome 1
    • Juvenile Nephronophthisis With Leber Amaurosis
    • Loken-Senior Syndrome
    • Renal Dysplasia And Retinal Aplasia
    • Renal-Retinal Syndrome
    • Senior-Loken Syndrome
  • Senior-Loken Syndrome 6
  • Senior-Loken Syndrome 7
  • Septooptic Dysplasia
    • De Morsier Syndrome
    • Pituitary Hormone Deficiency, Combined 5, Included
  • Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Negative, Due To Adenosine Deaminase Deficiency
    • SCID Due To ADA Deficiency
    • SCID Due To ADA Deficiency, Early-Onset
  • Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
    • Scid, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
  • Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative
    • SCID, T Cell-Negative, B Cell-Positive, NK Cell-Negative
  • Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
    • Soft Syndrome
  • SHORT Syndrome
    • Lipodystrophy, Partial, With Rieger Anomaly And Short Stature
    • Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, And Teething Delay
  • Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
  • Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
  • Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
    • Asphyxiating Thoracic Dystrophy 2
  • Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
    • Asphyxiating Thoracic Dystrophy 3
    • Polydactyly With Neonatal Chondrodystrophy, Type III
    • Saldino-Noonan Syndrome|Polydactyly With Neonatal Chondrodystrophy, Type I
    • Short Rib-Polydactyly Syndrome, Type I
    • Short Rib-Polydactyly Syndrome, Type IIb
    • Short Rib-Polydactyly Syndrome, Type Iii|Verma-Naumoff Syndrome
  • Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
    • Asphyxiating Thoracic Dystrophy 5
  • Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
    • Short Rib-Polydactyly Syndrome, Type V
  • Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
  • Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
    • Conorenal Syndrome
    • Mainzer-Saldino Syndrome
    • Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia, And Skeletal Dysplasia
  • Shprintzen-Goldberg Craniosynostosis Syndrome
    • Craniosynostosis with Arachnodactyly and Abdominal Hernias
    • Marfanoid Craniosynostosis Syndrome
    • Marfanoid Disorder with Craniosynostosis, Type I
  • Shwachman-Diamond Syndrome
    • Lipomatosis Of Pancreas, Congenital
    • Pancreatic Insufficiency And Bone Marrow Dysfunction
    • Shwachman-Bodian Syndrome
  • Siderius X-Linked Mental Retardation Syndrome
    • Mental Retardation, X-Linked, Syndromic, Siderius Type|Siderius-Hamel Syndrome
  • Silver-Russell Syndrome
    • Russell-Silver Syndrome
    • Silver-Russell Dwarfism
    • Uniparental Disomy 7
  • Simpson-Golabi-Behmel Syndrome, Type 1
    • Bulldog Syndrome
    • Dysplasia Gigantism Syndrome, X-Linked
    • Golabi-Rosen Syndrome
    • Sgbs
    • Simpson Dysmorphia Syndrome
  • Simpson-Golabi-Behmel Syndrome, Type 2
  • Sinoatrial Node Dysfunction And Deafness
  • Sjogren-Larsson Syndrome
    • Faldh Deficiency
    • Fatty Alcohol:Nad+ Oxidoreductase Deficiency
    • Fatty Aldehyde Dehydrogenase Deficiency
    • Ichthyosis, Spastic Neurologic Disorder, And Oligophrenia
  • Skeletal Defects, Genital Hypoplasia, And Mental Retardation
  • Smith-Kingsmore syndrome
    • Macrocephaly, seizures, mental retardation, umbilical hernia, and facial dysmorphism
  • Smith-Lemli-Opitz Syndrome
    • Lethal Acrodysgenital Syndrome
    • Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung
    • RSH Syndrome
    • Rutledge Lethal Multiple Congenital Anomaly Syndrome
    • SLO Syndrome
  • Smith-Magenis Syndrome
    • Smith-Magenis Chromosome Region, Included
  • Smith-Mccort Dysplasia 1
  • Solitary Median Maxillary Central Incisor
    • Fused Incisors
    • Incisors, Fused
    • Single Central Maxillary Incisor
    • Single Upper Central Incisor
  • Sotos Syndrome 1
    • Cerebral Gigantism
  • Sotos Syndrome 2
  • Spastic Ataxia 5, Autosomal Recessive
  • Spastic Ataxia, Charlevoix-Saguenay Type
    • Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
    • Charlevoix-Saguenay Spastic Ataxia
    • Spastic Ataxia 6, Autosomal Recessive
  • Spastic Paraplegia 11, Autosomal Recessive
    • Spastic Paraplegia, Autosomal Recessive, Complicated, With Thin Corpus Callosum
    • Spastic Paraplegia, Autosomal Recessive, With Mental Impairment And Thin Corpus Callosum
  • Spastic Paraplegia 13, Autosomal Dominant
  • Spastic Paraplegia 15, Autosomal Recessive
    • Kjellin Syndrome
    • Spastic Paraplegia And Retinal Degeneration
  • Spastic Paraplegia 2, X-Linked
  • Spastic Paraplegia 28, Autosomal Recessive
  • Spastic Paraplegia 44, Autosomal Recessive
  • Spastic Paraplegia 47, Autosomal Recessive
    • Cerebral Palsy, Spastic Quadriplegic, 5, Formerly
  • Spastic Paraplegia 49, Autosomal Recessive
  • Spastic Paraplegia 50, Autosomal Recessive
    • Cerebral Palsy, Spastic Quadriplegic, 3, Formerly
  • Spastic Paraplegia 51, Autosomal Recessive
    • Cerebral Palsy, Spastic Quadriplegic, 4, Formerly
  • Spastic Paraplegia 52, Autosomal Recessive
    • Cerebral Palsy, Spastic Quadriplegic, 6, Formerly
  • Spastic Paraplegia 54, Autosomal Recessive
  • Spastic Paraplegia 56, Autosomal Recessive
  • Spastic Paraplegia 64, Autosomal Recessive
    • 0
  • Spastic Paraplegia 9a, Autosomal Dominant
    • Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities
    • Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux
  • Speech-Language Disorder 1
    • Childhood Apraxia Of Speech
    • Developmental Verbal Dyspraxia
    • Speech And Language Disorder With Orofacial Dyspraxia
  • Spermatogenic Failure 8
    • 0
  • Spinal And Bulbar Muscular Atrophy, X-Linked 1
    • Bulbospinal Muscular Atrophy, X-Linked
    • Bulbospinal Neuronopathy, X-Linked Recessive
    • Kennedy Disease
    • Kennedy Spinal And Bulbar Muscular Atrophy
    • Spinal And Bulbar Muscular Atrophy
    • Spinal Muscular Atrophy, Benign, With Hypertrophy Of Calves, Included
  • Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
    • Myoclonus, Hereditary, With Progressive Distal Muscular Atrophy
  • Spinal Muscular Atrophy, Distal, X-Linked 3
    • Spinal Muscular Atrophy, Distal, X-Linked Recessive
  • Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
    • Kugelberg-Welander Syndrome, Autosomal Dominant
    • Sma-Led
    • Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
    • Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant
  • Spinocerebellar Ataxia 13
  • Spinocerebellar Ataxia 15
  • Spinocerebellar Ataxia 29
    • Aplasia Of Cerebellar Vermis
    • Cerebellar Ataxia, Congenital Nonprogressive, Autosomal Dominant
    • Cerebellar Vermis Aplasia
  • Spinocerebellar Ataxia, Autosomal Recessive 20
    • 0
  • Spinocerebellar Ataxia, Autosomal Recessive 8
    • Ataxia, Recessive, Of Beauce
    • Cerebellar Ataxia, Autosomal Recessive, Type 1
  • Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
    • Deafness, Congenital, With Split Hands And Feet
  • Split-Hand/Foot Malformation 3
    • Chromosome 10q24 Duplication Syndrome
    • Limb Deficiencies, Distal, With Micrognathia
  • Split-Hand/Foot Malformation 4
  • Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
  • Spondylocarpotarsal Synostosis Syndrome
    • Scoliosis, Congenital, With Unilateral Unsegmented Bar
    • Spondylocarpotarsal Syndrome
    • Synspondylism, Congenital
    • Vertebral Fusion With Carpal Coalition
  • Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
    • SCD-EDS
  • Spondylocostal Dysostosis 1, Autosomal Recessive
    • Costovertebral Dysplasia
    • Jarcho-Levin Syndrome
    • Spondylothoracic Dysostosis
    • Spondylothoracic Dysplasia
    • Vertebral Anomalies
  • Spondylocostal Dysostosis 2, Autosomal Recessive
  • Spondylocostal Dysostosis 3, Autosomal Recessive
  • Spondyloenchondrodysplasia With Immune Dysregulation
    • Combined Immunodeficiency With Autoimmunity And Spondylometaphyseal Dysplasia
    • Roifman Immunoskeletal Syndrome
  • Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 2
    • Spondyloepimetaphyseal Dysplasia With Joint Laxity, Hall Type
    • Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
    • Spondyloepimetaphyseal Dysplasia With Multiple Dislocations, Hall Type
  • Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
  • Spondyloepimetaphyseal Dysplasia, Aggrecan Type
  • Spondyloepimetaphyseal Dysplasia, Missouri Type
  • Spondyloepimetaphyseal Dysplasia, Strudwick Type
    • Dappled Metaphysis Syndrome
    • SEMD, Strudwick Type
    • SMED, Strudwick Type
    • SMED, Type I
    • Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type
    • Spondylometaphyseal Dysplasia
    • Strudwick Syndrome
  • Spondyloepiphyseal Dysplasia Congenita
    • Sed Congenita
    • Spondyloepiphyseal Dysplasia, Congenital Type
  • Spondyloepiphyseal Dysplasia Tarda, X-Linked
    • Sed Tarda, X-Linked
    • Spondyloepiphyseal Dysplasia, Late
  • Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
    • Chondrodysplasia With Multiple Dislocations
    • Humerospinal Dysostosis
    • Spondyloepiphyseal Dysplasia, Omani Type
  • Spondyloepiphyseal Dysplasia, Kimberley Type
  • Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
    • Smed, Short Limb-Abnormal Calcification Type
    • Smed, Short Limb-Hand Type
    • Smed-Sl
    • Spondylometaepiphyseal Dysplasia, Short Limb-Abnormal Calcification Type
  • Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
  • Spondylometaphyseal Dysplasia, Kozlowski Type
    • SMD, Kozlowski Type
  • Spondyloperipheral Dysplasia
    • Spondyloperipheral Dysplasia With Short Ulna
  • Stapes Ankylosis With Broad Thumb And Toes
    • Ankylosis Of Stapes, Hyperopia, Broad Thumbs, Broad First Toes, And Syndactyly
    • Stapes Ankylosis Syndrome Without Symphalangism
    • Teunissen-Cremers Syndrome
  • Stickler Syndrome, Type I, Nonsyndromic Ocular
    • Stickler Syndrome, Atypical
    • Stickler Syndrome, Type I, Predominantly Ocular
  • Stickler Syndrome, Type IV
  • Stickler Syndrome, Type V
  • Stiff Skin Syndrome
  • Striatonigral Degeneration, Infantile
    • Bilateral Striatal Necrosis, Infantile
    • Infantile Bilateral Striatal Necrosis
    • Striatal Degeneration, Familial
  • Succinic Semialdehyde Dehydrogenase Deficiency
    • 4-Hydroxybutyric Aciduria
    • Gaba Metabolic Defect
    • Gamma-Hydroxybutyric Aciduria
    • Ssadh Deficiency
  • Succinyl-CoA:3-Oxoacid-CoA Transferase Deficiency
    • Ketoacidosis Due To SCOT Deficiency
    • SCOT Deficiency
    • Succinyl-CoA:3-Ketoacid CoA-Transferase Deficiency
    • Succinyl-CoA:Acetoacetate Transferase Deficiency
  • Supravalvular Aortic Stenosis
    • Supravalvar Aortic Stenosis, Eisenberg Type
  • Symphalangism, Proximal, 1A
    • Cushing Symphalangism
    • Hereditary Absence Of The Proximal Interphalangeal Joints
  • Syndactyly, Type III
    • Ring And Little Finger Syndactyly
    • Syndactyly Of Fingers IV And V
  • Syndactyly, Type V
  • Synpolydactyly 1
    • Syndactyly, Type II
  • Tarsal-Carpal Coalition Syndrome
    • Synostosis Of Talus And Calcaneus With Short Stature, Included
  • Tatton-Brown-Rahman Syndrome
  • Temple-Baraitser Syndrome
    • Mental Retardation, Severe, And Absent Nails Of Hallux And Pollex
  • Temtamy Preaxial Brachydactyly Syndrome
  • Temtamy Syndrome
    • Mental Retardation With Or Without Craniofacial Dysmorphism, Ocular Coloboma, Or Abnormal Corpus Callosum
  • Terminal Osseous Dysplasia
    • ODPF Syndrome
    • Osseous Dysplasia, Digital, With Facial Pigmentary Defects And Multiple Frenula
    • Terminal Osseous Dysplasia And Pigmentary Defects
  • Tetraamelia Syndrome, Autosomal Recessive
  • Tetralogy Of Fallot
  • Thanatophoric Dysplasia, Type I
    • Severe Achondroplasia With Developmental Delay and Acanthosis Nigricans
    • Thanatophoric Dwarfism
    • Thanatophoric Dysplasia, Type I, Included
  • Thanatophoric Dysplasia, Type II
    • Cloverleaf Skull With Thanatophoric Dwarfism
    • Thanatophoric Dysplasia With Kleeblattschaedel
    • Thanatophoric Dysplasia With Straight Femurs And Cloverleaf Skull
  • Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
    • Basal Ganglia Disease, Biotin-Responsive
    • Encephalopathy, Thiamine-Responsive
  • Three M Syndrome 1
    • 3m Syndrome|Le Merrer Syndrome|Dolichospondylic Dysplasia|Gloomy Face Syndrome
  • Three M Syndrome 2
  • Three M Syndrome 3
  • Thrombocytopenia 2
    • Thrombocytopenia, Autosomal Dominant, 2
  • Thrombocytopenia-Absent Radius Syndrome
    • Chromosome 1q21.1 Deletion Syndrome, 200-Kb
    • TAR Syndrome
  • Thyroid Dyshormonogenesis 1
    • Hypothyroidism, Congenital, Due To Dyshormonogenesis, 1
    • Iodine Accumulation, Transport, Or Trapping Defect
    • Thyroid Hormonogenesis, Genetic Defect In, 1
  • Tietz Albinism-Deafness Syndrome
    • Albinism-Deafness Of Tietz
    • Hypopigmentation/Deafness Of Tietz
    • Tietz Syndrome
  • Timothy Syndrome
    • Long QT Syndrome 8
    • Long QT Syndrome With Syndactyly
  • Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
    • Star Syndrome
    • Syndactyly With Renal And Anogenital Malformations
  • Tooth Agenesis, Selective, 3
    • Hypodontia/Oligodontia 3
  • Tooth Agenesis, Selective, X-linked 1
    • Hypodontia/Oligodontia, X-Linked, 1
  • Townes-Brocks Syndrome
    • Anus, Imperforate, With Hand, Foot, And Ear Anomalies
    • Deafness, Sensorineural, With Imperforate Anus And Thumb Anomalies
    • REAR Syndrome
    • Renal-Ear-Anal-Radial Syndrome
  • Transmembrane Protein 114
  • Transposition Of The Great Arteries, Dextro-Looped 1
    • D-Tga
  • Transposition Of The Great Arteries, Dextro-Looped 3
  • Treacher Collins Syndrome 1
    • Mandibulofacial Dysostosis
    • Treacher Collins Syndrome
    • Treacher Collins-Franceschetti Syndrome
  • Treacher Collins Syndrome 2
  • Treacher Collins Syndrome 3
  • Trichohepatoenteric Syndrome 2
  • Trichorhinophalangeal Syndrome, Type I
  • Trichothiodystrophy 1, Photosensitive
    • Ichthyosiform Erythroderma With Hair Abnormality And Mental And Growth Retardation
    • Pibids Syndrome
    • Tay Syndrome
    • Trichothiodystrophy With Congenital Ichthyosis
    • Trichothiodystrophy, Photosensitive
  • Trichothiodystrophy 4, Nonphotosensitive
    • Amish Brittle Hair Brain Syndrome
    • Bids Syndrome
    • Hair-Brain Syndrome
    • Pollitt Syndrome
    • Trichothiodystrophy, Nonphotosensitive 1
    • Trichothiodystrophy-Neurocutaneous Syndrome
  • Tuberous Sclerosis 1
    • Tuberose Sclerosis
    • Tuberous Sclerosis Complex
  • Tuberous Sclerosis 2
    • Tsc2 Angiomyolipomas, Renal, Modifier Of, Included
  • Tyrosinemia, Type I
    • Fah Deficiency
    • Fumarylacetoacetase Deficiency
    • Fumarylacetoacetase, Included
    • Fumarylacetoacetate Hydrolase, Included
    • Hepatorenal Tyrosinemia
    • Tyrosinaemia
  • Tyrosinemia, Type III
    • 4-Hydroxyphenylpyruvate Dioxygenase Deficiency
    • 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency
  • Ulna And Fibula, Absence Of, With Severe Limb Deficiency
    • Al-Awadi/Raas-Rothschild Syndrome
    • Limb/Pelvis-Hypoplasia/Aplasia Syndrome
    • Schinzel Phocomelia Syndrome
  • Ulnar-Mammary Syndrome
    • Pallister Ulnar-Mammary Syndrome
    • Schinzel Syndrome
  • Uridine 5-Prime Monophosphate Hydrolase Deficiency, Haemolytic Anaemia Due To
    • Haemolytic Anaemia Due To P5N Deficiency
    • Haemolytic Anaemia Due To UMPH1 Deficiency
    • Hemolytic Anemia Due To P5N Deficiency
    • Hemolytic Anemia Due To UMPH1 Deficiency
    • P5N Deficiency
    • Pyrimidine 5-Prime Nucleotidase Deficiency, Haemolytic Anaemia Due To
    • Pyrimidine 5-Prime Nucleotidase Deficiency, Hemolytic Anemia Due To
    • UMPH1 Deficiency
    • Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
  • Urocanase Deficiency
  • Urofacial Syndrome 1
    • Facial Palsy, Partial, With Urinary Abnormalities
    • Hydronephrosis With Peculiar Facial Expression
    • Inverted Smile And Occult Neuropathic Bladder
    • Ochoa Syndrome
    • Urofacial Syndrome
  • Usher Syndrome, Type I
    • Retinitis Pigmentosa And Congenital Deafness
    • Usher Syndrome, Type I, French Variety
    • Usher Syndrome, Type IA
    • Usher Syndrome, Type IB
  • Usher Syndrome, Type ID
    • CDH23/PCDH15, Digenic
    • Usher Syndrome, Type ID/F
  • Usher Syndrome, Type IIIB
  • Usher Syndrome, Type IJ
  • UV-Sensitive Syndrome 1
  • UV-Sensitive Syndrome 2
  • Vacterl Association, X-Linked, With Or Without Hydrocephalus
    • Vacterl Association With Hydrocephalus, X-Linked
    • Vacterl-H, X-Linked
  • Van Den Ende-Gupta Syndrome
    • Blepharophimosis, Arachnodactyly, And Congenital Contractures
    • Marden-Walker-Like Syndrome Without Psychomotor Retardation
  • Van Der Woude Syndrome 1
    • Cleft Lip And/or Palate With Mucous Cysts Of Lower Lip
    • Lip-Pit Syndrome
  • VATER/VACTERL Association
  • Venous Malformations, Multiple Cutaneous And Mucosal
    • Vmcm1
  • Verheij syndrome
    • Chromosome 8q24.3 Deletion Syndrome
  • Vesicoureteral Reflux 3
  • Vici Syndrome
    • Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation, And Absent Corpus Callosum
  • Vitamin D-Dependent Rickets, Type 2a
    • Generalized Resistance To 1,25-Dihydroxyvitamin D
    • Hypocalcemic Vitamin D-Resistant Rickets
    • Pddr IIa
    • Pseudovitamin D-Deficiency, Type IIa
    • Rickets, Hereditary Vitamin D-Resistant
    • Rickets-Alopecia Syndrome
    • Vitamin D-Dependent Rickets, Type 2a, With Or Without Alopecia
    • Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol
  • Vohwinkel Syndrome
    • Deafness, Congenital, With Keratopachydermia and Constrictions of Fingers and Toes
    • Keratoderma Hereditarium Mutilans
    • Mutilating Keratoderma
  • Waardenburg Syndrome, Type 1
    • Waardenburg Syndrome With Dystopia Canthorum
  • Waardenburg Syndrome, Type 2A
    • Waardenburg Syndrome Without Dystopia Canthorum
    • Waardenburg Syndrome, Type IIA
  • Warburg Micro Syndrome 1
    • Micro Syndrome
  • Warsaw Breakage Syndrome
  • Watson Syndrome
    • Cafe-Au-Lait Spots With Pulmonic Stenosis
    • Pulmonic Stenosis with Cafe-au-Lait Spots
  • Weaver Syndrome
    • Weaver-Like Syndrome, Included
    • Weaver-Smith Syndrome
  • Weaver Syndrome 2
  • Weill-Marchesani Syndrome 2
    • Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome
    • Mesodermal Dysmorphodystrophy, Congenital
    • Spherophakia-Brachymorphia Syndrome
    • Weill-Marchesani Syndrome, Autosomal Dominant
  • Weissenbacher-Zweymuller Syndrome
    • Pierre Robin Syndrome With Fetal Chondrodysplasia
  • Weyers Acrofacial Dysostosis
  • Wieacker-Wolff Syndrome
    • Apraxia, Oculomotor, With Congenital Contractures And Muscle Atrophy
    • Contractures Of Feet, Muscle Atrophy, And Oculomotor Apraxia
    • Wieacker Syndrome
  • Wiedemann-Steiner Syndrome
    • Hairy Elbows, Short Stature, Facial Dysmorphism, And Developmental Delay
  • Wilson-Turner X-Linked Mental Retardation Syndrome
    • Mental Retardation, X-Linked, Syndromic 6
    • Mental Retardation, X-Linked, With Gynecomastia And Obesity
  • Winchester Syndrome
    • 0
  • Wolfram Syndrome 2
  • Woodhouse-Sakati Syndrome
    • Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia
    • Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome
  • Xeroderma Pigmentosum, Complementation Group A
    • Xeroderma Pigmentosum I
    • XP, Group A
  • Xeroderma Pigmentosum, Complementation Group B
    • XP, Group B
  • Xeroderma Pigmentosum, Complementation Group C
    • Xeroderma Pigmentosum III
    • XP, Group C
  • Xeroderma Pigmentosum, Complementation Group D
    • Xeroderma Pigmentosum IV
    • XP, Group D
  • Xeroderma Pigmentosum, Complementation Group E
    • Xeroderma Pigmentosum V
    • XP, Group E
  • Xeroderma Pigmentosum, Complementation Group F
    • Xeroderma Pigmentosum VI
    • XP, Group F
  • Xeroderma Pigmentosum, Complementation Group G
    • Xeroderma Pigmentosum VII
    • XP, Group G
  • XFE Progeroid Syndrome
    • XPF-ERCC1 Progeroid Syndrome
  • Yunis-Varon Syndrome
    • Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia
  • 24-dehydrocholesterol reductase
    • seladin-1
  • 3'-phosphoadenosine 5'-phosphosulfate synthase 2
  • 3-hydroxy-3-methylglutaryl-CoA synthase 2
    • 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
  • 3-hydroxyisobutyryl-CoA hydrolase
    • 0
  • 3-hydroxymethyl-3-methylglutaryl-CoA lyase
  • 3-oxoacid CoA transferase 1
  • 4-hydroxyphenylpyruvate dioxygenase
  • 5'-nucleotidase, cytosolic IIIA
    • 5'-nucleotidase, cytosolic III
    • 5-prime-nucleotidase, cytosolic IIIA
    • nucleotidase, 5-prime, cytosolic III
    • pyrimidine 5-prime-nucleotidase 1
    • uridine 5-prime monophosphate hydrolase 1
  • 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
    • AICARFT
    • IMPCHASE
    • PURH
  • 5-methyltetrahydrofolate-homocysteine methyltransferase
    • 5-methyltetrahydrofolate-homocysteine s-methyltransferase
    • methionine synthase
    • tetrahydropteroylglutamate methyltransferase
  • 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
  • 6-pyruvoyltetrahydropterin synthase
  • 7-dehydrocholesterol reductase
    • sterol delta-7-reductase
  • abhydrolase domain containing 5
    • CGI-58
    • NCIE2
  • acetyl-CoA acetyltransferase 1
  • aconitase 2
    • ACONM
  • acyl-CoA binding domain containing 6
    • MGC2404
  • acyl-CoA dehydrogenase family, member 9
  • acyl-CoA dehydrogenase, C-2 to C-3 short chain
  • acyl-CoA dehydrogenase, very long chain
    • acyl-Coenzyme A dehydrogenase, very long chain
  • acyl-CoA synthetase long-chain family member 4
    • ACS4
    • LACS4
  • acylglycerol kinase
    • multiple substrate lipid kinase
  • adaptor related protein complex 4, beta 1 subunit
    • BETA-4
  • adaptor related protein complex 4, epsilon 1 subunit
    • AP-4-EPSILON
    • SPG51
  • adaptor related protein complex 4, mu 1 subunit
    • MU-4
    • MU-ARP2
    • SPG50
  • adaptor related protein complex 4, sigma 1 subunit
    • AP47B
    • CLA20
    • SPG52
  • adaptor-related protein complex 1, sigma 2 subunit
    • mental retardation, X-linked 59
    • mental retardation, X-linked, syndromic 5
    • Pettigrew X-linked mental retardation syndrome
  • additional sex combs like 3, transcriptional regulator
    • 0
  • adenosine deaminase, RNA-specific
    • interferon-induced protein 4
  • adenosine kinase
    • AK
  • adenosine monophosphate deaminase 2
  • adenylate kinase 2
    • 0
  • adenylosuccinate lyase
    • adenylosuccinase
  • adhesion G protein-coupled receptor G1
    • G protein-coupled receptor 56
  • ADP ribosylation factor like GTPase 14 effector protein
    • ARF7EP
    • FLJ38968
  • adrenoceptor alpha 2B
    • ADRARL1
  • AF4/FMR2 family, member 2
    • FMR2 gene
  • AFG3 like matrix AAA peptidase subunit 2
    • AFG3 (ATPase family gene 3, yeast)-like 2
    • AFG3 ATPase family gene 3-like 2 (S. cerevisiae)
    • AFG3 ATPase family gene 3-like 2 (yeast)
    • AFG3 ATPase family member 3-like 2 (S. cerevisiae)
    • AFG3-like AAA ATPase 2
    • spinocerebellar ataxia 28
  • aggrecan
  • AKT serine/threonine kinase 1
    • v-akt murine thymoma viral oncogene homolog 1
  • AKT serine/threonine kinase 3
    • v-akt murine thymoma viral oncogene homolog 3
  • alanine-glyoxylate aminotransferase
    • serine-pyruvate aminotransferase
  • aldehyde dehydrogenase 1 family, member A3
    • RALDH3
  • aldehyde dehydrogenase 18 family, member A1
    • pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)
  • aldehyde dehydrogenase 3 family, member A2
    • FALDH
  • aldehyde dehydrogenase 5 family, member A1
  • aldehyde dehydrogenase 7 family, member A1
    • 26G turgor protein homolog
    • alpha aminoadipic semialdehyde dehydrogenase
    • alpha-AASA dehydrogenase
    • alpha-aminoadipic semialdehyde dehydrogenase
    • antiquitin 1
    • delta1-piperideine-6-carboxylate dehydrogenease
    • P6C dehydrogenase
  • aldolase, fructose-bisphosphate A
    • aldolase 1
    • aldolase A
    • aldolase A, fructose-bisphosphate
    • fructoaldolase A
    • fructose-1,6-bisphosphate aldolase A
  • aldolase, fructose-bisphosphate B
    • aldolase 2
    • aldolase B
    • aldolase B, fructose-bisphosphate
    • fructose-1,6-bisphosphate aldolase B
  • ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
    • ALG1, YEAST, HOMOLOG OF; ALG1
    • HMT-1, HMAT1
  • ALG11, alpha-1,2-mannosyltransferase
    • KIAA0266
  • ALG13, UDP-N-acetylglucosaminyltransferase subunit
    • ALG13, s. cerevisiae, homolog of
    • asparagine-linked glycosylation 13 homolog (S. cerevisiae)
    • asparagine-linked glycosylation 13, s. cerevisiae, homolog of
    • chromosome X open reading frame 45
    • glycosyltransferase 28 domain containing 1
  • ALG2, alpha-1,3/1,6-mannosyltransferase
    • CDGIi
    • FLJ14511
    • hALPG2
    • NET38
  • ALG3, alpha-1,3- mannosyltransferase
    • CDGS4
    • D16Ertd36e
    • Not56
    • NOT56L
  • ALG6, alpha-1,3-glucosyltransferase
    • 0
  • alkaline phosphatase, liver/bone/kidney
  • alkylglycerone phosphate synthase
    • alkyldihydroxyacetonephosphate synthase
  • ALMS1, centrosome and basal body associated protein
    • ALMS1 gene
    • Alstrom syndrome 1
  • alpha-L-fucosidase 1
    • fucosidase, alpha-L- 1, tissue
  • alpha-N-acetylgalactosaminidase
    • N-acetylgalactosaminidase, alpha
  • ALX homeobox 3
  • ALX homeobox 4
    • aristaless-like homeobox 4
  • amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
    • amylo-1, 6-glucosidase, 4-alpha-glucanotransferase
    • glycogen debranching enzyme
    • glycogen storage disease type III
  • androgen receptor
    • dihydrotestosterone receptor
    • nuclear receptor subfamily 3, group c, member 4
  • ANKH inorganic pyrophosphate transport regulator
    • ANK, Mouse, Homolog Of
    • ankylosis, progressive (mouse) homolog
    • ankylosis, progressive homolog (mouse)
    • craniometaphyseal dysplasia, Jackson type (dominant)
  • ankyrin repeat domain 11
    • ankyrin repeat domain-containing protein 11
    • ankyrin repeat-containing cofactor 1
    • nasopharyngeal carcinoma susceptibility protein
  • ankyrin repeat domain 26
    • KIAA1074
  • anthrax toxin receptor 1
    • ATR
    • FLJ10601
    • FLJ21776
    • TEM8
  • APC membrane recruitment protein 1
    • Family with sequence similarity 123B
  • apoptogenic 1, mitochondrial
    • APOP-1
    • MGC2562
  • apoptosis inducing factor, mitochondria associated 1
    • AIF
    • CMTX4
  • arginase 1
    • arginase, liver
  • argininosuccinate lyase
    • argininosuccinase
  • argininosuccinate synthetase 1
    • argininosuccinate synthetase
  • arginyl-tRNA synthetase 2, mitochondrial
    • arginyl-tRNA synthetase-like
  • aristaless related homeobox
    • aristaless-related homeobox, x-linked
    • CT121
    • EIEE1
    • ISSX
  • armadillo repeat containing 4
  • aryl hydrocarbon receptor interacting protein-like 1
    • aryl hydrocarbon receptor-interacting protein-like 1
  • arylsulfatase A
    • arylsulphatase A
    • cerebroside 3-sulfatase
    • cerebroside 3-sulphatase
    • cerebroside-sulfatase
    • cerebroside-sulphatase
  • arylsulfatase B
  • arylsulfatase E (chondrodysplasia punctata 1)
  • aspartate beta-hydroxylase
    • BAH
    • CASQ2BP1
    • HAAH
    • JCTN
  • aspartoacylase
    • aminoacylase 2
    • aspartoacylase
    • aspartoacylase (aminoacylase 2, canavan disease)
  • aspartyl-tRNA synthetase
    • 0
  • aspartyl-tRNA synthetase 2, mitochondrial
  • aspartylglucosaminidase
    • 0
  • ATM serine/threonine kinase
    • ataxia telangiectasia mutated
    • tel1, telomere maintenance 1, homolog (s. cerevisiae)
  • ATP-binding cassette, sub-family B, member 11
    • ABC member 16, MDR/TAP subfamily
    • ATP-binding cassette, sub-family B (MDR/TAP), member 11
    • bile salt export pump
    • progressive familial intrahepatic cholestasis 2
    • sister of P-glycoprotein
  • ATP-binding cassette, sub-family B, member 6 (Langereis blood group)
    • EST45597
    • MTABC3
    • umat
  • ATP-binding cassette, sub-family B, member 7
    • ABC transporter 7
    • ATP-binding cassette 7
    • ATP-binding cassette transporter 7
    • ATP-binding cassette, sub-family B (MDR/TAP), member 7
  • ATP-binding cassette, sub-family C, member 6
    • anthracycline resistance-associated protein
    • ATP-binding cassette, sub-family C (CFTR/MRP), member 6
    • multidrug resistance-associated protein 6
    • pseudoxanthoma elasticum
  • ATP-binding cassette, sub-family D, member 1
    • adrenoleukodystrophy protein
    • ATP-binding cassette, sub-family D (ALD), member 1
  • ATP-binding cassette, sub-family D, member 4
  • ATPase 13A2
    • CLN12
    • HSA9947
  • ATPase copper transporting alpha
    • ATPase, Cu++ transporting, alpha polypeptide
  • ATPase H+ transporting accessory protein 2
    • APT6M8-9
    • ATP6M8-9
    • M8-9
    • PRR
    • RENR
  • ATPase Na+/K+ transporting subunit alpha 3
    • ATPase, Na+/K+ transporting, alpha 3 polypeptide
    • dystonia 12
    • sodium-potassium-ATPase, alpha-3 polypeptide
  • ATR serine/threonine kinase
    • ataxia telangiectasia and RAD3 related
    • ATR gene
    • FRAP-related protein 1
  • ATRX, chromatin remodeler
    • Helicase 2, X-linked
    • X-linked Nuclear Protein gene
  • AU RNA binding methylglutaconyl-CoA hydratase
    • AU RNA binding protein/enoyl-CoA hydratase
  • autoimmune regulator
    • autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
  • axin 1
    • PPP1R49
  • B-cell CLL/lymphoma 11A
    • BCL11A-L
    • BCL11A-S
    • BCL11A-XL
    • CTIP1
    • HBFQTL5
    • ZNF856
  • B-cell receptor-associated protein 31
    • 6C6-Ag
    • BAP31
    • CDM
    • DXS1357E
  • Bardet-Biedl syndrome 1
    • BBS1 gene
  • Bardet-Biedl syndrome 10
    • BBS10 gene
    • chromosome 12 open reading frame 58
  • Bardet-Biedl syndrome 12
    • chromosome 4 open reading frame 24
  • Bardet-Biedl syndrome 2
    • BBS2 gene
  • Bardet-Biedl syndrome 4
    • BBS4 gene
  • Bardet-Biedl syndrome 5
    • BBS5 gene
  • Bardet-Biedl syndrome 9
    • BBS9 gene
    • parathyroid hormone-responsive B1 gene
    • PTH-responsive B1 gene
  • BCL6 corepressor
    • BCL6 co-repressor
  • beta-1,3-galactosyltransferase 6
  • beta-1,3-N-acetylgalactosaminyltransferase 2
  • biogenesis of lysosomal organelles complex 1 subunit 6
    • HPS9
  • biotinidase
  • BMP binding endothelial regulator
    • CRIM3
    • Cv2
  • bolA family member 3
    • 0
  • branched chain keto acid dehydrogenase E1, alpha polypeptide
  • branched chain keto acid dehydrogenase E1, beta polypeptide
  • BRCA1 associated ATM activator 1
    • MGC22916
  • BRCA1 interacting protein C-terminal helicase 1
  • bromodomain and WD repeat domain containing 3
    • FLJ38568
    • MRX93
  • C2 calcium-dependent domain containing 3
  • cadherin 15
    • 0
  • calcium and integrin binding family member 2
    • deafness, autosomal recessive 48
    • KIP2
    • Usher syndrome 1J (autosomal recessive)
  • calcium/calmodulin dependent serine protein kinase
    • calcium/calmodulin-dependent serine protein kinase (MAGUK family)
    • CAMGUK, drosophila, homolog of
    • trinucleotide repeat containing 8
    • vertebrate LIN2 homolog
  • carbamoyl-phosphate synthase 1
    • carbamoyl phosphate synthetase i deficiency
    • carbamoyl-phosphate synthase 1, mitochondrial
    • carbamoyl-phosphate synthetase 1, mitochondrial
    • cps i deficiency
  • carbohydrate sulfotransferase 14
    • carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
    • dermatan 4 sulfotransferase 1
  • cartilage oligomeric matrix protein
  • caseinolytic mitochondrial matrix peptidase proteolytic subunit
    • ClpP (caseinolytic protease, ATP-dependent, proteolytic subunit, E. coli) homolog
    • ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli)
    • ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E. coli)
  • CASP2 and RIPK1 domain containing adaptor with death domain
    • RAIDD
  • caspase 2
    • ICH1
    • MGC2181
    • PPP1R57
  • cathepsin A
    • protective protein for beta-galactosidase (galactosialidosis)
  • cathepsin K
    • cathepsin K (pycnodysostosis)
  • caveolin 1
    • caveolin 1, caveolae protein, 22kD
    • caveolin 1, caveolae protein, 22kDa
  • CDGSH iron sulfur domain 2
    • ERIS
    • Miner1
    • NAF-1
  • cell cycle associated protein 1
    • caprin-1
    • RNG105
  • centrosomal protein 135
    • centrosomal protein 135kDa
    • centrosomal protein 4
  • centrosomal protein 152
    • centrosomal protein 152kDa
    • microcephaly, primary autosomal recessive 4
  • centrosomal protein 290
    • antigen identified by monoclonal antibody 3H11
    • BBS14 gene
    • centrosomal protein 290kDa
    • nephrocystin 6
  • centrosomal protein 57
    • centrosomal protein 57kDa
    • KIAA0092
    • Translokin
    • TSP57
  • centrosomal protein 63
    • centrosomal protein 63kDa
    • FLJ13386
  • centrosomal protein 83
    • centrosomal protein 83kDa
  • centrosome and spindle pole associated protein 1
  • cereblon
    • MRT2
  • charged multivesicular body protein 1A
    • CHMP1
    • KIAA0047
    • Vps46A
  • CHM, Rab escort protein 1
    • CHM gene
    • choroideremia (Rab escort protein 1)
    • Rab escort protein 1
    • Rab geranylgeranyltransferase, component A
    • Rab GG transferase
  • chondroitin sulfate synthase 1
  • chromatin licensing and DNA replication factor 1
    • double parked, drosophila, homolog of
  • chromodomain helicase DNA-binding protein 7
  • chromosome 2 open reading frame 71
    • FLJ34931
    • RP54
  • chromosome 5 open reading frame 42
  • chromosome 8 open reading frame 37
    • BBS21
    • CORD16
    • FLJ30600
    • RP64
  • claudin 19
  • CLN3, battenin
    • batten, spielmeyer-vogt disease
    • battenin
    • ceroid-lipofuscinosis, neuronal 3
    • cln3 gene
    • juvenile neuronal ceroid lipofuscinosis
  • CLN5, intracellular trafficking protein
    • ceroid-lipofuscinosis, neuronal 5
  • CLN6, transmembrane ER protein
    • ceroid-lipofuscinosis, neuronal 6, late infantile, variant
    • CLN6 Gene
  • CLN8, transmembrane ER and ERGIC protein
    • ceroid-lipofuscinosis, neuronal 8
    • ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
  • coenzyme A synthase
    • CoASY
    • DPCK
    • NBP
    • PPAT
  • coenzyme Q2, polyprenyltransferase
    • coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
    • parahydroxybenzoate-polyprenyltransferase, mitochondrial
  • coenzyme Q5, methyltransferase
    • MGC4767
  • coenzyme Q9
    • DKFZP434K046
  • coiled-coil and C2 domain containing 1A
    • FLJ20241
    • MRT3
  • coiled-coil and C2 domain containing 2A
  • coiled-coil domain containing 103
    • PR46B, chlamydomonas, homolog of
    • schmalhans, zebrafish, homolog of
  • coiled-coil domain containing 114
  • coiled-coil domain containing 151
  • coiled-coil domain containing 22
    • JM1
  • coiled-coil domain containing 39
  • coiled-coil domain containing 40
  • coiled-coil domain containing 65
  • coiled-coil domain containing 8
  • collagen, type I, alpha 1
    • COL1A1/PDGFB fusion gene, included
    • collagen of skin, tendon, and bone, alpha-1 chain
    • collagen, type I, alpha-1
  • collagen, type II, alpha 1 chain
    • AOM
    • chondrocalcin, included
    • collagen of cartilage
    • collagen, type II
    • collagen, type II, alpha 1
    • collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) SEDC
    • vitreoretinopathy with phalangeal epiphyseal dysplasia, included
  • collagen, type III, alpha 1 chain
    • collagen, type III, alpha 1 ehlers-danlos syndrome type IV, autosomal dominant
  • collagen, type IV, alpha 1 chain
    • collagen of basement membrane, alpha-1 chain
    • collagen, type IV, alpha 1
  • collagen, type IV, alpha 2
    • collage type IV
    • collagen of basement membrane, alpha-2 chain
  • collagen, type IV, alpha 3 binding protein
    • CERT
    • GPBP
    • STARD11
  • collagen, type IV, alpha 3 chain
    • collagen of basement membrane, alpha-3 chain
    • collagen, type IV, alpha 3 (goodpasture antigen)
    • tumstatin
  • collagen, type IX, alpha 1
  • collagen, type IX, alpha 2
  • collagen, type IX, alpha 3
  • collagen, type XI, alpha 2
  • collagen, type XVIII, alpha 1 chain
    • collagen, type XVIII, alpha 1
    • Knobloch syndrome, type 1
  • component of oligomeric golgi complex 1
    • KIAA1381
  • component of oligomeric golgi complex 8
    • DOR1
    • FLJ22315
  • cone-rod homeobox
    • cone-rod homeobox-containing gene
  • connector enhancer of kinase suppressor of Ras 2
    • CNK2
    • KIAA0902
    • KSR2
  • conserved helix-loop-helix ubiquitous kinase
    • IkBKA
    • IKK-alpha
    • IKK1
    • IKKA
    • NFKBIKA
  • COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
    • 0
  • COX14 cytochrome c oxidase assembly factor
    • MGC14288
  • COX15 cytochrome c oxidase assembly homolog
    • CEMCOX2
  • CREB binding protein
    • CBP/MOZ fusion gene, included
    • CREB-binding protein
    • rubinstein-taybi syndrome
  • cripto, FRL-1, cryptic family 1
    • cryptic
    • cryptic protein
    • cryptic, mouse, homolog of
  • crumbs 1, cell polarity complex component
    • crumbs (Drosophila) homolog 1
    • crumbs homolog 1 (Drosophila)
  • crystallin, alpha A
    • crystallin, alpha-1
    • heat-shock protein beta-4
  • crystallin, beta A1
    • crystallin, beta-1
    • crystallin, beta-a1/a3
  • crystallin, beta A4
  • crystallin, beta B1
  • crystallin, beta B2
    • crystallin, beta-2
  • crystallin, beta B3
    • crystallin, beta-3
  • crystallin, gamma C
    • crystallin, gamma-3
  • crystallin, gamma D
    • crystallin, gamma-4
  • CST telomere replication complex component 1
    • chromosome 17 open reading frame 68
    • CTS telomere maintenance complex component 1
    • tmp494178
  • CTD phosphatase subunit 1
    • CTD (carboxy-terminal domain, RNA polymerase II, polypep tide A) phosphatase, subunit 1
    • CTD phosphatase subunit 1
  • cullin 4B
  • cullin 7
  • cyclin Q
    • family with sequence similarity 58, member A
  • cyclin-dependent kinase inhibitor 1C
    • cyclin-dependent kinase inhibitor 1C
    • cyclin-dependent kinase inhibitor 1C (p57, KIP2)
    • p57(KIP2)
  • cyclin-dependent kinase-like 5
    • serine/threonine protein kinase 9
  • cystatin A
    • 0
  • cystatin B
    • cystatin B (stefin B)
    • stefin B
  • cystinosin, lysosomal cystine transporter
    • cystinosin
    • cystinosis, nephropathic
  • cytochrome b5 reductase 3
    • 0
  • cytochrome c oxidase assembly factor 5
    • FLJ27524
    • MGC52110
    • Pet191
  • cytochrome c oxidase subunit 6B1
    • COXG
  • cytochrome c oxidase subunit 7B
    • 0
  • cytochrome c1
    • UQCR4
  • cytochrome P450, family 1, subfamily B, member 1
    • cytochrome P450, family 1, subfamily B, polypeptide 1
    • cytochrome p450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)
  • cytochrome P450, family 2, subfamily U, member 1
    • cytochrome P450, family 2, subfamily U, polypeptide 1
  • cytoskeleton associated protein 2 like
    • FLJ40629
    • radmis
  • damage-specific DNA binding protein 2
    • damage-specific DNA binding protein 2 (48kD)
    • damage-specific DNA binding protein 2, 48kDa
    • DDB, p48 subunit
    • DNA damage-binding protein 2
  • DDB1 and CUL4 associated factor 17
    • FLJ13096
  • DDHD domain containing 1
    • spastic paraplegia 28 (autosomal recessive)
  • DDHD domain containing 2
    • SAM, WWE and DDHD domain containing 1
  • DEAD-box helicase 3, X-linked
    • DBX
    • DDX14
    • HLP2
  • DEAD-box helicase 59
  • DEAD/H-box helicase 11
    • CHL1-related helicase gene 1
    • DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
    • DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11
    • DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)
    • keratinocyte growth factor regulated gene 2 KRG2
  • DEAF1, transcription factor
    • NUDR
    • SPN
    • ZMYND5
  • decaprenyl diphosphate synthase subunit 1
    • COQ1
    • prenyl (decaprenyl) diphosphate synthase, subunit 1
    • TPT
  • decaprenyl diphosphate synthase subunit 2
    • prenyl (decaprenyl) diphosphate synthase, subunit 2
  • dedicator of cytokinesis 7
  • dehydrogenase E1 and transketolase domain containing 1
    • CMT2Q
    • DKFZP762M115
    • KIAA1630
    • MGC3090
  • delta-like canonical Notch ligand 3
    • delta, drosophila, homolog of
    • delta-like 3
    • delta-like 3 (drosophila)
  • dentin matrix acidic phosphoprotein 1
  • dentin sialophosphoprotein
    • DMP3
  • desmoglein 1
    • CDHF4
  • diacylglycerol O-acyltransferase 1
    • ARGP1, DGAT
  • dihydrofolate reductase
  • dihydrolipoamide branched chain transacylase E2
  • dihydrolipoamide dehydrogenase
    • DLDH
  • dihydroorotate dehydrogenase (quinone)
    • 0
  • DIS3 like 3'-5' exoribonuclease 2
    • FLJ36974
    • MGC42174
  • disco interacting protein 2 homolog B
    • FLJ34278
    • KIAA1463
  • discoidin domain receptor tyrosine kinase 2
  • discs large MAGUK scaffold protein 3
    • KIAA1232
    • MRX90
    • NE-Dlg
    • NEDLG
    • PPP1R82
    • SAP-102
    • SAP102
  • distal-less homeobox 5
    • 0
  • DM1 protein kinase
    • dm kinase
    • dm protein kinase
    • dystrophia myotonica protein kinase
    • myotonin-protein kinase
  • DNA ligase 4
    • DNA ligase IV
    • ligase IV, DNA, ATP-dependent
  • DNA methyltransferase 3 alpha
    • DNA (cytosine-5-)-methyltransferase 3 alpha
  • DNA methyltransferase 3 beta
    • DNA (cytosine-5-)-methyltransferase 3 beta
  • DNA polymerase delta 1, catalytic subunit
    • polymerase (DNA directed), delta 1, catalytic subunit
    • polymerase (DNA directed), delta 1, catalytic subunit (125kD)
  • DNA replication helicase/nuclease 2
    • KIAA0083
  • dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit
    • KIAA0115
    • OST
    • OST48
    • WBP1
  • dolichyl-phosphate mannosyltransferase polypeptide 3
    • MGC125904
    • MGC125905
    • MGC34275
  • dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
    • dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
    • GlcNAc-1-P transferase
    • UDP-GlcNAc:dolichyl-phosphate n-acetylglucosaminephosphotransferase
  • doublecortin
    • doublecortex; lissencephaly, x-linked (doublecortin)
    • doublecortin
  • dual serine/threonine and tyrosine protein kinase
    • DustyPK
    • KIAA0472
    • RIP5
  • dymeclin
  • dynamin 1
  • dynein regulatory complex subunit 1
  • dynein, axonemal, assembly factor 5
    • HEAT repeat containing 2
  • dynein, cytoplasmic 2, heavy chain 1
  • dyskerin pseudouridine synthase 1
    • dyskeratosis congenita 1, dyskerin
    • dyskerin
    • NOPP140-associated protein, 57-KD
  • dyslexia susceptibility 1 candidate 1
  • dystroglycan 1
    • dystroglycan 1 (dystrophin-associated glycoprotein 1)
  • dystrophin
    • apo-dystrophin 1, included
    • dystrophin
    • dystrophin (muscular dystrophy, duchenne and becker types)
  • E1A binding protein p300
    • histone acetyltransferase p300
  • ectodysplasin A
    • ectodysplasin
    • ectodysplasin A
    • ectodysplasin A1 isoform, included
    • ectodysplasin A2 isoform, included
    • ED1 gene
    • EDA-A1, included
    • EDA-A2, included
    • EDA1 gene
  • ectonucleoside triphosphate diphosphohydrolase 1
    • ATPDase
    • NTPDase-1
    • SPG64
  • ectonucleotide pyrophosphatase/phosphodiesterase 1
    • alkaline phosphodiesterase i
    • ly41, mouse, homolog of
    • membrane component, chromosome 6, surface marker 1
    • nucleotide pyrophosphatase
    • phosphodiesterase i/nucleotide pyrophosphatase 1
    • plasma cell membrane glycoprotein pc-1
  • ectopic P-granules autophagy protein 5 homolog
    • ectopic P-granules autophagy protein 5 homolog (C. elegans)
    • ectopic p-granules autophagy protein 5, c. elegans, homolog of
  • EGF domain specific O-linked N-acetylglucosamine transferase
    • AER61
    • FLJ33770
  • elastin
  • electron transfer flavoprotein alpha subunit
    • electron-transfer-flavoprotein, alpha polypeptide
    • electron-transfer-flavoprotein, alpha subunit
  • electron-transfer-flavoprotein dehydrogenase
    • electron-transferring-flavoprotein dehydrogenase
  • electron-transfer-flavoprotein, beta subunit
    • electron-transfer-flavoprotein, beta polypeptide
  • elongation factor Tu GTP binding domain containing 2
    • U5 snRNP-specific protein, 116-kD
    • U5-116kD
  • emopamil binding protein (sterol isomerase)
    • 3-@beta-hydroxysteroid-delta-8,delta-7 isomerase
    • emopamil-binding protein
  • empty spiracles homeobox 2
    • 0
  • endothelin 1
    • ET1
  • endothelin converting enzyme like 1
    • DINE
    • XCE
  • endothelin receptor type B
    • ETB
  • enhancer of zeste 2 polycomb repressive complex 2 subunit
    • enhancer of zeste (Drosophila) homolog 2
    • enhancer of zeste homolog 2 (Drosophila)
  • eomesodermin
    • TBR2
  • ephrin-B1
  • ER membrane associated RNA degradation
    • dJ266L20.3
    • FLJ11152
  • erb-b2 receptor tyrosine kinase 3
    • HER3
  • ERCC excision repair 1, endonuclease non-catalytic subunit
    • DNA repair defect UV-20 of chinese hamster ovary cells, complementation of
    • excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)
    • excision-repair, complementing defective, in chinese hamster, 1
  • ERCC excision repair 2, TFIIH core complex helicase subunit
    • DNA repair defect EM9 of chinese hamster ovary cells, complementation of
    • excision repair cross-complementing rodent repair deficiency, complementation group 2
    • excision-repair, complementing defective, in chinese hamster, 2
    • xeroderma pigmentosum complementary group D
    • XPD gene
  • ERCC excision repair 3, TFIIH core complex helicase subunit
    • excision repair cross-complementing rodent repair deficiency, complementation group 3
    • XPB gene
  • ERCC excision repair 4, endonuclease catalytic subunit
    • excision repair cross-complementing rodent repair deficiency, complementation group 4
    • excision-repair, complementing defective, in chinese hamster
  • ERCC excision repair 5, endonuclease
    • excision repair cross-complementing rodent repair deficiency, complementation group 5
    • RAD2, yeast, homolog of
    • uv damage, excision repair of, UV-135
    • xeroderma pigmentosum, complementation group G
    • xeroderma pigmentosum, group g correcting protein
    • XPG gene
  • ERCC excision repair 6 like 2
    • FLJ37706
    • RAD26L
  • ERCC excision repair 6, chromatin remodeling factor
    • excision repair cross-complementing rodent repair deficiency, complementation group 6
  • ERCC excision repair 8, CSA ubiquitin ligase complex subunit
    • cockayne syndrome 1 (classical)
    • excision repair cross-complementing rodent repair deficiency, complementation group 8
  • espin
    • deafness, autosomal recessive 36
  • establishment of sister chromatid cohesion N-acetyltransferase 2
    • CTF7, s. cerevisiae, homolog of, 2
    • ECO1, s. cerevisiae, homolog of, 2
    • ESO1, s. pombe, homolog of, 2
    • establishment factor ortholog 2; EFO2
    • establishment of cohesion 1 homolog 2 (S. cerevisiae)
    • Roberts syndrome
  • estrogen-related receptor beta
    • deafness, autosomal recessive 35
  • ETHE1, persulfide dioxygenase
    • HSCO
    • YF13H12
  • ETS2 repressor factor
  • euchromatic histone lysine methyltransferase 1
    • euchromatic histone methyltransferase 1
    • euchromatic histone-lysine N-methyltransferase 1
  • eukaryotic translation elongation factor 1 alpha 2
    • EEF1AL
    • HS1
  • eukaryotic translation elongation factor 1 beta 2
    • 0
  • eukaryotic translation initiation factor 2-alpha kinase 3
    • pancreatic eif2-alpha kinase
    • perk
  • EvC ciliary complex subunit 1
    • Ellis van Creveld
  • EvC ciliary complex subunit 2
    • Ellis van Creveld 2
  • exophilin 5
    • SLAC2-B
  • exostosin glycosyltransferase 2
  • EYA transcriptional coactivator and phosphatase 1
    • eyes absent 1
    • eyes absent homolog 1 (Drosophila)
    • eyes absent, drosophila, homolog of, 1
  • EYA transcriptional coactivator and phosphatase 4
    • eyes absent (Drosophila) homolog 4
    • eyes absent homolog 4 (Drosophila)
  • FAD dependent oxidoreductase domain containing 1
    • H17
  • FAM20A, golgi associated secretory pathway pseudokinase
    • DKFZp434F2322
    • family with sequence similarity 20, member A
  • FAM20C, golgi associated secretory pathway kinase
    • dentin matrix protein 4
    • family with sequence similarity 20, member C
  • family with sequence similarity 111, member A
    • FLJ22794
    • KIAA1895
  • family with sequence similarity 126, member A
  • family with sequence similarity 134, member B
  • family with sequence similarity 161, member A
    • retinitis pigmentosa 28 (autosomal recessive)
  • fanconi anemia, complementation group A
    • fanconi anaemia complementation group A gene
    • fanconi anaemia, complementation group A
    • fanconi anemia complementation group A gene
  • fanconi anemia, complementation group B
    • fanconi anaemia, complementation group B
    • fanconi anaemia-associated polypeptide, 95-kd
    • fanconi anemia-associated polypeptide, 95-kd
  • fanconi anemia, complementation group C
    • FANCC gene
    • fanconi anaemia, complementation group C
    • fanconi pancytopenia, type 3
  • fanconi anemia, complementation group D2
    • FANCD2 gene
    • fanconi anaemia, complementation group D2
  • fanconi anemia, complementation group E
    • FANCE gene
    • fanconi anaemia, complementation group E
  • fanconi anemia, complementation group F
    • FANCF gene
    • fanconi anaemia, complementation group F
  • fanconi anemia, complementation group G
    • DNA repair protein XRCC9
    • fanconi anaemia, complementation group G
    • X-ray repair complementing defective repair in chinese hamster cells 9
    • X-ray repair, complementing defective, in chinese hamster, 9
  • fanconi anemia, complementation group I
    • fanconi anaemia, complementation group I
  • fanconi anemia, complementation group L
    • fanconi anaemia, complementation group L
  • fanconi anemia, complementation group M
    • fanconi anaemia, complementation group M
  • FAT atypical cadherin 4
    • CDHF14
    • CDHR11
    • FAT-J
  • fatty acid synthase
  • fatty acyl-CoA reductase 1
    • FLJ22728
    • SDR10E1
  • feline leukemia virus subgroup C cellular receptor 1
    • ataxia, posterior column 1, with retinitis pigmentosa
  • FERM domain containing 7
  • ferritin light chain
    • ferritin, light polypeptide
  • FEZ family zinc finger 1
    • 0
  • fibrillin 1
    • fibrillin
    • fibrillin 1 (marfan syndrome)
  • fibrillin 2
    • congenital contractural arachnodactyly
  • fibroblast growth factor 10
  • fibroblast growth factor 3
    • HBGF-3
  • fibroblast growth factor 9
  • fibroblast growth factor receptor 1
    • fms-like gene
    • fms-like tyrosine kinase 2
    • fms-related tyrosine kinase 2
  • fibroblast growth factor receptor 2
    • bek, mouse, homolog of, included
    • fgf receptor
    • fibroblast growth factor receptor 2
    • fibroblast growth factor receptor bek, included
    • keratinocyte growth factor receptor, included
    • protein tyrosine kinase, receptor-like, 14
  • fibroblast growth factor receptor 3
    • achondroplasia, thanatophoric dwarfism
  • filaggrin
  • filamin A
    • actin-binding protein 280
    • alpha (actin binding protein 280)
    • filamin 1
    • filamin A
    • filamin A alpha
    • filamin, alpha
  • filamin B
    • filamin B beta
    • filamin B, beta (actin binding protein 278)
    • Larsen syndrome 1 (autosomal dominant)
  • FK506 binding protein 14
    • FK506 binding protein 14 (22 kDa)
    • FK506 binding protein 14, 22 kDa
  • fms related tyrosine kinase 4
    • FMS-like tyrosine kinase 4
    • vascular endothelial growth factor receptor 3
  • folate receptor 1
    • folate receptor
    • folate receptor 1 (adult)
    • folate receptor, alpha
    • folate-binding protein, adult
    • ovarian cancer-associated antigen
  • forkhead box C1
    • forkhead, drosophila, homolog-like 7
    • forkhead-related activator 3
  • forkhead box C2
    • forkhead box C2 (MFH-1, mesenchyme forkhead 1)
    • forkhead, drosophila, homolog-like 14
    • mesenchyme forkhead 1
  • forkhead box E1
  • forkhead box E3
  • forkhead box F
    • forkhead, drosophila, homolog-like 5
    • forkhead-related activator 1
  • forkhead box G1
    • BF1
    • brain factor 1
    • forkhead box G1A
    • forkhead box G1B
    • forkhead box G1C
    • forkhead-like 1
    • QIN
  • forkhead box P1
    • 12CC4
    • hFKH1B
    • HSPC215
    • QRF1
  • forkhead box P2
    • CAGH44
  • forkhead box P3
  • formimidoyltransferase cyclodeaminase
  • four and a half LIM domains 1
    • KYOT, mouse, homolog of
  • fragile X mental retardation 1
    • fragile site mental retardation 1 gene
    • fragile site, folic acid type, rare, fra(X)(q27.3), included
    • fragile X mental retardation syndrome, included
    • fragile X mental retardation 1 gene
    • fragile X mental retardation protein
    • fragile X syndrome, included
    • fragile X tremor/ataxia syndrome, included
    • marker X syndrome, included
    • martin-bell syndrome, included
    • mental retardation, X-linked, associated with MARXQ28, included
    • X-linked mental retardation and macroorchidism, included
  • FRAS1 related extracellular matrix 1
  • FRAS1 related extracellular matrix protein 2
  • frizzled class receptor 6
    • Hfz6
  • fructose-bisphosphatase 1
    • fructose-1,6-bisphosphatase 1
    • fructose-1,6-bisphosphatase, Liver
    • fructose-1,6-diphosphatase
  • FRY microtubule binding protein
    • 13CDNA73
    • bA37E23.1
    • CG003
  • FTO, alpha-ketoglutarate dependent dioxygenase
    • ALKBH9
    • fat mass and obesity associated
    • KIAA1752
    • MGC5149
  • fukutin
    • fcmd gene
    • fukuyama type congenital muscular dystrophy (fukutin)
  • fukutin related protein
    • fukutin-related protein
  • fumarate hydratase
    • fumarase
    • fumarate hydratase, cytosolic, included
    • fumarate hydratase, mitochondrial
  • fumarylacetoacetate hydrolase
    • fumarylacetoacetase
    • fumarylacetoacetate hydrolase (fumarylacetoacetase)
  • FYVE, RhoGEF and PH domain containing 1
    • faciogenital dysplasia (aarskog-scott syndrome)
  • G protein signaling modulator 2
    • deafness, autosomal recessive 82
    • G-protein signalling modulator 2 (AGS3-like, C. elegans)
  • G protein subunit alpha i3
    • 87U6
  • G protein subunit alpha o1
    • G-ALPHA-o
  • G protein-coupled receptor 179
    • CSNB1E
  • G1 to S phase transition 2
    • eRF3b
    • FLJ10441
  • galactokinase 1
  • galactosamine (N-acetyl)-6-sulfate sulfatase
    • galactosamine-6-sulfatase deficiency
    • galactosamine-6-sulfate sulfatase, included
    • GALNS deficiency
    • morquio syndrome A
    • MPS IVa
    • mucopolysaccharidosis type IVa
  • galactose-1-phosphate uridylyltransferase
  • galactosidase, beta 1
    • elastin receptor 1 (67kD)
    • elastin receptor 1, 67kDa
  • galactosylceramidase
    • galactosylceramidase (krabbe disease)
  • gamma-aminobutyric acid type A receptor, beta 3 subunit
    • GABA-A receptor, beta-3 polypeptide
    • gamma-aminobutyric acid (GABA) A receptor, beta 3
    • gamma-aminobutyric acid receptor, beta-3
  • gap junction protein, alpha 1
    • gap junction protein, alpha 1, 43kDa
    • gap junction protein, alpha 1, 43kDa (connexin 43)
    • gap junction protein, alpha-like
  • gap junction protein, alpha 8
    • connexin 50
    • gap junction protein, alpha 8, 50kD (connexin 50)
    • gap junction protein, alpha 8, 50kDa
    • gap junction protein, alpha 8, 50kDa (connexin 50)
  • gap junction protein, beta 2
    • connexin 26
    • gap junction protein, 26-kd
    • gap junction protein, beta 2, 26kDa
    • gap junction protein, beta 2, 26kda (connexin 26)
    • gap junction protein, beta-2
  • gap junction protein, gamma 2
    • connexin 46.6
    • connexin 47
    • gap junction protein, 47-kDa
    • gap junction protein, alpha 12, 47kDa
    • gap junction protein, gamma 2, 47kDa
    • gap junction protein, gamma-2
  • gasdermin E
    • deafness, autosomal dominant 5
    • DFNA5, deafness associated tumor suppressor
  • GATA binding protein 2
    • GATA-binding protein 2
  • GATA binding protein 4
  • GATA binding protein 6
  • GATA zinc finger domain containing 2B
    • P66beta
  • GDP dissociation inhibitor 1
    • FLJ41411
    • OPHN2
    • RABGDIA
    • XAP-4
  • GDP-mannose pyrophosphorylase A
    • 0
  • GDP-mannose pyrophosphorylase B
  • general transcription factor IIH subunit 5
    • chromosome 6 open reading frame 175
    • general transcription factor IIH, polypeptide 5
    • TFIIH basal transcription factor complex, TTDA subunit
    • transcription factor IIH, 8-KD subunit
    • trichothiodystrophy
  • GLE1, RNA export mediator
    • hGLE1
  • GLI family zinc finger 2
    • GLI-Kruppel family member GLI2
    • glioma-associated oncogene family zinc finger 2
  • glial fibrillary acidic protein
  • GLIS family zinc finger 3
  • glomulin, FKBP associated protein
    • FAP48
    • FKBPAP
    • GLML
    • GVM
  • glucosamine (N-acetyl)-6-sulfatase
  • glucosidase, alpha, acid
    • glycogen storage disease type II
    • pompe disease
  • glucosylceramidase beta
    • glucocerebrosidase
    • glucocerebrosidase beta
    • glucosidase, acid beta
    • glucosidase, beta, acid
    • glucosidase, beta; acid (includes glucosylceramidase)
  • glucuronidase, beta
  • glutamate decarboxylase 1
    • 0
  • glutamate dehydrogenase 1
    • glud
  • glutamate ionotropic receptor NMDA type subunit 2B
    • GluN2B
    • glutamate receptor, ionotropic, N-methyl D-aspartate 2B
    • N-methyl-D-aspartate receptor channel, subunit epsilon-2
  • glutamate ionotropic receptor AMPA type subunit 3
    • GluA3
    • GLURC
    • MRX94
  • glutamate ionotropic receptor kainate type subunit 2
    • GluK2
    • MRT6
  • glutamate ionotropic receptor NMDA type subunit 1
    • GluN1
  • glutamate ionotropic receptor NMDA type subunit 2A
    • GluN2A
    • glutamate receptor, ionotropic, N-methyl D-aspartate 2A
    • N-methyl-D-aspartate receptor channel, subunit epsilon-1
  • glutamate metabotropic receptor 1
    • glutamate receptor, metabotropic 1
    • GRM1-alpha
    • MGLUR1-alpha
  • glutamate metabotropic receptor 6
    • CSNB1B
    • GPRC1F
    • mGlu6
    • MGLUR6
  • glutamate-ammonia ligase
    • 0
  • glutaminyl-tRNA synthetase
  • glutaryl-CoA dehydrogenase
    • glutaricaciduria i
    • glutaryl-coa dehydrogenase deficiency
    • glutaryl-coenzyme a dehydrogenase
  • glyceronephosphate o-acyltransferase
  • glycine amidinotransferase
    • AGAT
  • glycine cleavage system protein H
    • glycine cleavage system protein H (aminomethyl carrier)
  • glycine decarboxylase
    • GCSPNKH
    • glycine cleavage system p protein
    • glycine dehydrogenase
    • glycine dehydrogenase (decarboxylating)
    • glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein p)
    • mitochondrial glycine cleavage enzyme subunit p
  • glycogen phosphorylase L
    • glycogen storage disease type VI
    • hers disease
    • phosphorylase, glycogen, liver
  • glypican 3
  • glypican 6
  • GM2 ganglioside activator
  • GNAS complex locus
    • 1
    • adenylate cyclase stimulatory protein, alpha subunit
    • GS, alpha subunit
    • guanine nucleotide-binding protein, alpha-stimulating activity polypeptide
    • neuroendocrine secretory protein 55, included
    • secretogranin VI
    • stimulatory g protein
    • XI-alpha-s, included
  • grainyhead-like transcription factor 2
    • deafness, autosomal dominant 28
    • grainyhead-like 2 (Drosophila)
    • transcription factor CP2-like 3
  • growth differentiation factor 1
  • growth differentiation factor 3
    • 0
  • growth differentiation factor 5
  • growth differentiation factor 6
    • BMP13
    • KFS
    • KFS1
  • growth factor, augmenter of liver regeneration
    • ALR
    • ERV1
    • HERV1
    • HPO1
    • HPO2
    • HSS
  • growth hormone receptor
    • GHBP
  • GTP cyclohydrolase 1
    • dopa-responsive dystonia
    • gtp cyclohydrolase i
  • guanidinoacetate N-methyltransferase
    • PIG2
    • TP53I2
  • guanylate cyclase 2C
    • guanylate cyclase 2C (heat stable enterotoxin receptor)
    • guanylyl cyclase 2c
    • heat-stable enterotoxin receptor
  • H6 family homeobox 1
    • homeo box (H6 family) 1
  • heat shock protein family D (Hsp60) member 1
    • chaperonin, 60-KD
    • GroEL, e. coli, homolog of
    • heat shock 60kD protein 1 (chaperonin)
    • heat shock 60kDa protein 1 (chaperonin)
    • heat-shock 60-kDa protein 1
    • spastic paraplegia 13 (autosomal dominant)
  • heat shock transcription factor 4
    • cataract, Marner
  • HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
    • Ib772
    • KIAA0312
    • UREB1
  • heparan sulfate proteoglycan 2
    • perlecan
  • heparan-alpha-glucosaminide N-acetyltransferase
  • hepatocyte nuclear factor 4, alpha
    • hepatocyte nuclear factor 4
    • hepatocyte nuclear factor 4-alpha
    • hnf4-alpha
    • transcription factor 14, hepatic nuclear factor
  • HESX homeobox 1
  • heterogeneous nuclear ribonucleoprotein U
    • FLJ30202
    • FLJ37978
    • hnRNPU
    • SAF-A
  • hexosaminidase subunit beta
    • hexosaminidase b (beta polypeptide)
  • histidine triad nucleotide binding protein 1
    • PKCI-1
  • histidyl-tRNA synthetase
  • histone cluster 3, H3
    • H3.4
    • H3/g
    • H3t
  • histone deacetylase 4
  • histone deacetylase 8
    • RPD3
  • holocarboxylase synthetase
  • holocytochrome c synthase
    • holocytochrome c synthase (cytochrome c heme-lyase)
    • microphthalamia with linear skin defects
  • homeobox A1
  • homeobox B1
    • HOX2, HOX2I
  • homeobox C13
    • 0
  • homeobox D13
    • homeo box d13
    • homeobox 4i
  • HR, lysine demethylase and nuclear receptor corepressor
    • AU
    • hair growth associated
  • HRas proto-oncogene, GTPase
    • v-Ha-ras harvey rat sarcoma viral oncogene homolog
  • HYDIN, axonemal central pair apparatus protein
    • hydrocephalus inducing
    • hydrocephalus inducing homolog (mouse)
    • hydrocephalus-inducing, mouse, homolog of
  • hydroxyacyl-CoA dehydrogenase
    • hydroxyacyl-coenzyme a dehydrogenase
    • l-3-hydroxyacyl-coenzyme a dehydrogenase, short chain
  • hydroxysteroid 17-beta dehydrogenase 10
    • 17b-HSD10
    • ABAD
    • CAMR
    • ERAB
    • hydroxysteroid (17-beta) dehydrogenase 10
    • MHBD
    • MRPP2
    • SDR5C1
  • hydroxysteroid 17-beta dehydrogenase 4
    • hydroxysteroid (17-beta) dehydrogenase 4
  • HYLS1, centriolar and ciliogenesis associated
    • hydrolethalus syndrome 1
  • hyperpolarization activated cyclic nucleotide gated potassium channel 1
    • hyperpolarization activated cyclic nucleotide-gated potassium channel 1
  • hypoxanthine phosphoribosyltransferase 1
    • hypoxanthine guanine phosphoribosyltransferase 1
  • immunoglobulin binding protein 1
    • immunoglobulin (CD79A) binding protein 1
  • immunoglobulin superfamily member 1
    • IGCD1
    • IGDC1
    • INHBP
    • KIAA0364
    • MGC75490
    • PGSF2
  • immunoglobulin-like domain containing receptor 1
    • deafness, autosomal recessive 42
  • indian hedgehog
  • inhibitor of nuclear factor kappa B kinase subunit gamma
    • IKK-gamma
    • incontinentia pigmenti
    • inhibitor of kappa light polypeptide gene enhancer in B cells, kinase of, gamma
    • inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
    • NF-KAPPA-B Essential Modulator
  • inositol 1,4,5-trisphosphate receptor, type 1
    • spinocerebellar ataxia 15
    • spinocerebellar ataxia 16
    • spinocerebellar ataxia 29
  • inositol monophosphatase domain containing 1
    • FLJ20421
    • gPAPP
    • IMPA3
  • inositol polyphosphate phosphatase like 1
  • inositol polyphosphate-4-phosphatase type I A
    • 0
  • inositol polyphosphate-5-phosphatase E
    • inositol polyphosphate-5-phosphatase, 72 kDa
    • Joubert syndrome 1
  • insulin like growth factor 1
    • IGF-I
    • IGF1A
    • IGFI
  • insulin like growth factor 1 receptor
    • CD221
    • IGFIR
    • IGFR
    • JTK13
    • MGC18216
  • insulin like growth factor binding protein 7
    • FSTL2
    • IGFBP-7
    • MAC25
    • PSF
  • insulin-like growth factor 2
    • insulin-like growth factor 2 (somatomedin a)
    • somatomedin a
  • integrin subunit alpha 3
  • integrin subunit alpha 6
    • CD49f
  • integrin subunit alpha 7
    • integrin, alpha 7
  • integrin subunit alpha 8
    • 0
  • interferon regulatory factor 6
    • OFC6
    • VWS1
  • interleukin 1 receptor accessory protein like 1
    • IL1R8
    • OPHN4
    • TIGIRR-2
  • interleukin 11
    • AGIF
    • IL-11
  • intraflagellar transport 140
  • intraflagellar transport 172
  • intraflagellar transport 43
  • intraflagellar transport 80
  • IQ motif and Sec7 domain 2
    • KIAA0522
  • isoprenoid synthase domain containing
    • hCG_1745121
    • IspD
    • Nip
  • isovaleryl-CoA dehydrogenase
  • jagged 1
    • (alagille syndrome)
    • deafness, congenital heart defects, and posterior embryotoxon, included
    • jagged 1
  • jagunal homolog 1
    • FLJ14602
    • GL009
  • janus kinase 3
    • janus kinase 3
    • janus kinase, leukocyte
  • kaptin, actin binding protein
    • 20000
  • KAT8 regulatory NSL complex subunit 1
    • CENP-36
    • DKFZP727C091
    • MSL1v1
    • NSL1
  • kelch like family member 40
    • NEM8
    • SRYP
  • kelch repeat and BTB domain containing 13
    • hCG_1645727
    • kelch repeat and BTB (POZ) domain containing 13
    • NEM6
  • keratin 74
    • K6IRS4
    • KRT5C
    • KRT6IRS4
  • KIF1 binding protein
    • KBP
    • KIAA1279
    • Kinesin binding protein
    • TTC20
  • kinesin family member 11
    • Eg5
    • HKSP
    • TRIP5
  • kinesin family member 1A
    • axonal transport of synaptic vesicles
    • chromosome 2 open reading frame 20
    • spastic paraplegia 30 (autosomal recessive)
  • kinesin family member 22
  • kinesin family member 2A
    • HK2
  • kinesin family member 4A
    • FLJ12530
    • FLJ12655
    • FLJ14204
    • FLJ20631
    • HSA271784
    • KIF4
    • KIF4-G1
    • MRX100
  • kinesin family member 5C
    • 0
  • kinesin family member 7
  • kirre like nephrin family adhesion molecule 3
    • KIAA1867
    • kin of IRRE like 3 (Drosophila)
    • KIRRE
    • NEPH2
  • KIT proto-oncogene receptor tyrosine kinase
    • piebald trait
    • v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
  • KRAS proto-oncogene, GTPase
    • kirsten murine sarcoma VIrus 2
    • kirsten ras1, included
    • oncogene kras1, included
    • oncogene kras2
    • v-Ki-ras1 pseudogene, included
    • v-Ki-ras2 kirsten rat sarcoma viral oncogene homolog
  • KRIT1, ankyrin repeat containing
    • CCM1 gene
    • KREV interaction trapped 1
  • Kruppel-like factor 1
    • erythroid Kruppel-like factor
    • Kruppel-like factor 1 (erythroid)
  • Kruppel-like factor 8
    • BKLF3
    • DXS741
    • ZNF741
  • L-2-hydroxyglutarate dehydrogenase
  • L1 cell adhesion molecule
    • L1 cell adhesion molecule (hydrocephalus, stenosis of aqueduct of sylvius 1, masa (mental retardation, aphasia, shuffling gait and adducted thumbs) syndrome, spastic paraplegia 1)
    • neural cell adhesion molecule L1
  • La ribonucleoprotein domain family member 7
    • DKFZP564K112
    • HDCMA18P
    • PIP7S
  • lamin A/C
    • lamin A
    • lamin C
    • prelamin A
  • lamin B receptor
  • laminin subunit alpha 1
    • laminin, alpha 1
  • laminin subunit beta 1
    • CLM, cutis laxa with marfanoid phenotype, laminin, beta 1
    • laminin, beta 1
  • laminin subunit gamma 3
    • DKFZp434E202
    • laminin, gamma 3
  • LARGE xylosyl- and glucuronyltransferase 1
    • acetylglucosaminyltransferase-like protein
    • LARGE1
    • like-glycosyltransferase
  • latent transforming growth factor beta binding protein 2
    • chromosome 14 open reading frame 141
  • LDL receptor related protein 2
  • LDL receptor related protein 4
  • LDL receptor related protein 5
    • low density lipoprotein receptor-related protein 5
    • low density lipoprotein receptor-related protein 7
  • LDL receptor related protein associated protein 1
    • HBP44
  • lecithin retinol acyltransferase
    • lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
  • left-right determination factor 2
    • LEFTA
    • LEFTYA
  • LEM domain containing 3
    • integral inner nuclear membrane protein
    • man antigen 1
  • leucine rich repeat, Ig-like and transmembrane domains 3
    • CSNB1F
    • FIGLER4
    • FLJ44691
  • leucine rich transmembrane and O-methyltransferase domain containing
    • deafness, autosomal recessive 63
    • leucine rich repeat containing 51
  • LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
  • LHFPL tetraspan subfamily member 5
    • deafness, autosomal recessive 67
    • lipoma HMGIC fusion partner-like 5
  • LIM homeobox 3
  • LIM homeobox transcription factor 1, beta
  • lines homolog 1
    • LINS
  • lipase family member N
    • bA186O14.3
  • lipoxygenase homology domains 1
    • deafness, autosomal recessive 77
  • LMBR1 domain containing 1
    • chromosome 6 open reading frame 209
    • NES-interacting protein
  • lysine demethylase 5A
    • 0
  • lysine demethylase 6B
    • KIAA0346
  • lysine methyltransferase 2A
    • ALL-1
    • CXXC7
    • HRX
    • HTRX1
    • MLL1A
    • TRX1
  • lysine methyltransferase 2D
    • all1-related gene
    • myeloid/lymphoid or mixed-lineage leukemia 2
  • lysosomal associated membrane protein 2
    • lysosomal membrane glycoprotein, 110-kd
    • lysosome-associated membrane protein b
  • lysyl-tRNA synthetase
    • deafness, autosomal recessive 89
  • MAF bZIP transcription factor
    • protooncogene MAF
    • v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
  • MAF bZIP transcription factor B
    • v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
  • MAGE family member L2
    • nM15
  • magnesium transporter 1
  • major facilitator superfamily domain containing 8
    • ceroid-lipofuscinosis, neuronal 7, late infantile, variant
  • malonyl-CoA decarboxylase
  • mannan binding lectin serine peptidase 1
    • MASP
  • mannose-P-dolichol utilization defect 1
    • CDGIf
    • Lec35
    • PQLC5
    • SL15
  • mannosidase, alpha, class 1B member 1
    • ERManI
    • MANA-ER
    • MRT15
  • mannosidase, beta
  • mannosyl-oligosaccharide glucosidase
    • CWH41
    • DER7
    • GCS1
  • MARVEL domain containing 2
    • deafness, autosomal recessive 49
    • MARVEL (membrane-associating) domain containing 2
  • mastermind like domain containing 1
    • chromosome X open reading frame 6
  • matrilin 3
  • matrix Gla protein
  • matrix metallopeptidase 13
  • matrix metallopeptidase 14
    • MT1-MMP
  • mechanistic target of rapamycin kinase
    • mechanistic target of rapamycin
    • mechanistic target of rapamycin (serine/threonine kinase)
  • Meckel syndrome, type 1
  • mediator complex subunit 13 like
    • KIAA1025
    • TRAP240L
  • mediator complex subunit 17
    • CRSP77
    • DRIP80
    • TRAP80
  • mediator complex subunit 23
    • CRSP130
    • DRIP130
    • Sur2
  • melanocortin 2 receptor
    • melanocortin 2 receptor (adrenocorticotropic hormone)
  • melanogenesis-associated transcription factor
    • bHLHe32
    • MI
    • microphthalmia-associated transcription factor
    • Waardenburg syndrome, type 2A
  • mesenchyme homeobox 1
    • MOX1
  • mesoderm posterior bHLH transcription factor 2
    • mesoderm posterior 2 homolog (mouse)
  • metal-regulatory transcription factor 1
    • 0
  • methionine adenosyltransferase 1A
  • methionine sulfoxide reductase B3
    • deafness, autosomal recessive 74
  • methyl-CpG binding domain protein 5
  • methyl-CpG binding protein 2
    • encephalopathy, nonprogressive, neonatal-onset, included
    • methyl-CpG binding protein 2 (rett syndrome)
    • methyl-cpg-binding protein 2
  • methylcrotonoyl-CoA carboxylase 1
  • methylcrotonoyl-CoA carboxylase 2
  • methylenetetrahydrofolate reductase
    • 5,10-methylenetetrahydrofolate reductase (NADPH)
    • methylenetetrahydrofolate reductase (NAD(P)H)
  • methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
  • methylmalonic aciduria and homocystinuria, cblD type
    • chromosome 2 open reading frame 25
    • methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
    • MMADHC gene
  • methylmalonyl CoA epimerase
    • methylmalonyl-CoA racemase
  • methylmalonyl CoA mutase
    • methylmalonyl Coenzyme A mutase
  • microcephalin 1
    • mcph1
    • mcph1 gene
    • microcephalin
    • microcephaly, primary autosomal recessive 1
  • microsomal triglyceride transfer protein
    • ABL
  • midline 1
    • FXY
    • OS
    • RNF59
    • TRIM18
  • miR-17-92a-1 cluster host gene
    • FLJ14178
    • LINC00048
    • MIHG1
    • miR-17-92
    • MIRH1
    • NCRNA00048
  • mitochondrial calcium uptake 1
  • mitochondrial tRNA translation optimization 1
    • 0
  • mitogen-activated protein kinase 10
    • JNK3
    • p493F12
    • p54bSAPK
  • mitogen-activated protein kinase kinase 1
    • MAPK/ERK kinase 1
    • protein kinase, mitogen-activated, kinase 1
  • mitogen-activated protein kinase kinase 2
    • MAPK/ERK kinase 2
    • protein kinase, mitogen-activated, kinase 2
  • mitogen-activated protein kinase kinase kinase 1
    • mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
  • molybdenum cofactor synthesis 1
    • MOCOD
  • molybdenum cofactor synthesis 2
    • MOCO1
  • monoamine oxidase A
  • motor neuron and pancreas homeobox 1
    • homeo box hb9
    • homeobox gene hb9
  • MpV17 mitochondrial inner membrane protein
    • MpV17 transgene, murine homolog, glomerulosclerosis
  • MRE11 homolog, double strand break repair nuclease
    • meiotic recombination (S. cerevisiae) 11 homolog A
    • MRE11 homolog A, double strand break repair nuclease
    • MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
  • msh homeobox 1
    • homeobox 7
    • msh homeo box homolog 1 (drosophila)
    • msh, drosophila, homolog of, 1
    • muscle segment homeobox, drosophila, homolog of, 1
  • msh homeobox 2
    • msh homeo box homolog 2 (drosophila)
    • msh, drosophila, homolog of, 2
    • muscle segment homeobox, drosophila, homolog of, 2
  • multiple EGF like domains 10
    • KIAA1780
  • multiple EGF like domains 8
    • FLJ22365
    • SBP1
  • MYCN proto-oncogene, bHLH transcription factor
    • v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
    • v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived
    • v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)
  • myelin transcription factor 1 like
    • KIAA1106
    • NZF1
    • ZC2H2C2
    • ZC2HC4B
  • myocilin
    • myocilin, trabecular meshwork inducible glucocorticoid response
  • myocyte enhancer factor 2C
    • MADS box transcription enhancer factor 2, polypeptide C
  • myosin heavy chain 3
    • myosin, heavy chain 3, skeletal muscle, embryonic
    • myosin, heavy polypeptide 3, skeletal muscle, embryonic
  • myosin heavy chain 8
    • myosin, heavy chain 8, skeletal muscle, perinatal
    • myosin, heavy polypeptide 8, skeletal muscle, perinatal
  • myosin heavy chain 9
    • myosin, heavy chain 9, non-muscle
    • myosin, heavy polypeptide 9, non-muscle
  • myosin VA
    • GS1
    • MYO5
    • MYR12
  • myosin VB
    • KIAA1119
  • myosin VIIA
    • myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))
    • myosin, unconventional, family VII, member A
  • myosin XVA
  • myotubularin 1
    • myotubularin
  • myotubularin related protein 14
    • FLJ22405
    • FLJ90311
    • hEDTP
    • hJumpy
  • N(alpha)-acetyltransferase 15, NatA auxiliary subunit
    • FLJ13340
    • NATH
    • TBDN100
  • N-acetyl-alpha-glucosaminidase
    • N-acetylglucosaminidase, alpha
    • sanfilippo disease IIIB
  • N-acetylglucosamine-1-phosphate transferase, alpha/beta subunits
  • N-acetylglucosamine-1-phosphate transferase, gamma subunit
  • N-acetylglutamate synthase
  • N-deacetylase and N-sulfotransferase 1
    • N-deacetylase/N-sulfotransferase 1
    • NST1
  • N-sulfoglucosamine sulfohydrolase
    • heparan sulfate sulfatase
    • heparan sulphate sulphatase
    • mucopolysaccharidosis type IIIA
    • N-sulfoglucosamine sulfohydrolase
    • N-sulphoglucosamine sulphohydrolase
    • sulfamidase
    • sulphamidase
  • NADH:ubiquinone oxidoreductase complex assembly factor 2
    • B17.2L
    • mimitin
    • MMTN
  • NADH:ubiquinone oxidoreductase core subunit S1
    • CI-75k
  • NADH:ubiquinone oxidoreductase core subunit S7
    • CI-20
    • FLJ45860
    • FLJ46880
    • PSST
  • NADH:ubiquinone oxidoreductase core subunit S8
    • CI-23k
    • TYKY
  • NADH:ubiquinone oxidoreductase core subunit V1
    • CI-51K
  • NADH:ubiquinone oxidoreductase subunit A1
    • CI-MWFE
    • MWFE
  • NADH:ubiquinone oxidoreductase subunit S4
    • AQDQ
    • CI-18
  • natriuretic peptide receptor 2
  • NDP, norrin cystine knot growth factor
    • atrophia bulborum hereditaria
    • episkopi blindness
    • exudative retinopathy, x-linked, included
    • nd
    • norrie disease
    • norrie disease protein, included
    • norrin (pseudoglioma)
    • norrin, included
    • pseudoglioma
  • nebulin
    • NEB177D
  • nectin cell adhesion molecule 1
    • ED4
    • HVEC
    • PVRL1
  • nephrocystin 1
    • nephrocystin-1
    • nephronophthisis 1 (juvenile)
    • nephronophthisis, familial juvenile
  • nephrocystin 3
    • nephronophthisis 3 (adolescent)
  • neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
    • KIAA0439
    • NEDD4-2
    • RSP5
  • neuraminidase 1
    • neuraminidase 1 (lysosomal sialidase)
    • sialidase 1 (lysosomal sialidase)
  • neurexin 1
    • Hs.22998
    • KIAA0578
  • neurexin 2
    • 0
  • neurexin 3
    • KIAA0743
  • neurite extension and migration factor
    • KIAA2022
    • MRX98
    • XLMR-related protein, neurite extension
    • XPN
  • neurofibromin 1
    • neurofibromatosis
    • neurofibromatosis, type i
    • neurofibromatosis, type i, with glioma, included
    • neurofibromatosis, type i, with leukemia, included
    • neurofibromin, included
    • von recklinghausen disease
  • neurotrophic receptor, tyrosine kinase 1
    • high affinity nerve growth factor receptor
    • neurotrophic tyrosine kinase, receptor, type 1
  • NFU1 iron-sulfur cluster scaffold
    • CGI-33
    • NifU
    • NIFUC
  • NHS actin remodeling regulator
    • Nance-Horan syndrome (congenital cataracts and dental anomalies)
  • nibrin
    • AT-V1
    • AT-V2
    • ATV
    • Nijmegen breakage syndrome 1 (nibrin)
    • p95 protein of the MRE11/RAD50 complex
  • NIPBL, cohesin loading factor
    • delangin
    • nipped-B homolog (drosophila)
    • sister chromatid cohesion 2 homolog (yeast)
  • NK2 homeobox 5
    • CSX1
    • NKX2.5
    • NKX4-1
  • NK3 homeobox 2
  • nodal growth differentiation factor
  • noggin
  • NOP2/Sun RNA methyltransferase family member 2
    • FLJ20303
    • Misu
    • TRM4
  • notch 1
    • Notch (Drosophila) homolog 1 (translocation-associated)
    • Notch homolog 1, translocation-associated (Drosophila)
  • notch 2
    • notch homolog 2 (drosophila)
  • notch 3
    • notch homolog 3 (drosophila)
    • notch, drosophila, homolog of, 3
  • NPC intracellular cholesterol transporter 1
    • neurovisceral storage disease with vertical supranuclear ophthalmoplegia
    • niemann-pick disease with cholesterol esterification block
    • niemann-pick disease without sphingomyelinase deficiency
    • niemann-pick disease, chronic neuronopathic form
    • niemann-pick disease, nova scotian type, included
    • niemann-pick disease, subacute juvenile form
    • niemann-pick disease, type C
    • Niemann-Pick disease, type C1
    • niemann-pick disease, type D, included
  • NPHS1, nephrin
    • nephrosis 1, congenital, Finnish type (nephrin)
    • renal glomerulus-specific cell adhesion receptor
  • NRAS proto-oncogene, GTPase
    • neuroblastoma RAS viral (v-ras) oncogene homolog
    • neuroblastoma RAS viral oncogene homolog
    • oncogene NRAS
  • NSE3 homolog, SMC5-SMC6 complex component
    • NDNL2
  • nuclear factor I A
    • KIAA1439
    • NFI-L
  • nuclear factor I X
    • NF1A
  • nuclear receptor subfamily 1, group I, member 3
    • CAR
    • CAR1
    • MB67
  • nuclear receptor subfamily 2, group F, member 1
    • COUP-TFI
    • EAR-3
    • SVP44
    • TCFCOUP1
  • nuclear receptor subfamily 2, group F, member 2
    • COUP-TFII
    • COUPTFB
    • NF-E3
    • SVP40
  • nuclear receptor subfamily 5, group A, member 1
  • nucleoporin 62
    • DKFZp547L134
    • FLJ20822
    • FLJ43869
    • IBSN
    • MGC841
    • p62
    • SNDI
  • nudE neurodevelopment protein 1
    • nudE nuclear distribution E homolog 1 (A. nidulans)
    • nudE nuclear distribution gene E homolog 1 (A. nidulans)
  • nyctalopin
    • CLRP
    • CSNB1A
  • obscurin-like 1
  • OFD1, centriole and centriolar satellite protein
    • chromosome X open reading frame 5
    • oral-facial-digital syndrome 1
    • retinitis pigmentosa 23 (X-linked recessive)
  • oligophrenin 1
    • mental retardation, X-linked 60
  • origin recognition complex, subunit 4
    • ORC4-like
    • origin recognition complex, subunit 4 (yeast homolog)-like
    • origin recognition complex, subunit 4 homolog (S. cerevisiae)
    • origin recognition complex, subunit 4-like (S. cerevisiae)
    • origin recognition complex, subunit 4-like (yeast)
  • ornithine carbamoyltransferase
    • ornithine transcarbamylase
  • otoancorin
    • deafness, autosomal recessive 22
  • otoferlin
  • otogelin like
    • FLJ90579
  • p21 (RAC1) activated kinase 3
    • bPAK
    • hPAK3
  • paired box 2
  • paired box 3
    • paired domain gene hup2
  • paired box 6
    • paired box gene 6
    • paired box gene 6 (aniridia, keratitis)
  • paired box 8
  • paired box 9
    • 0
  • paired related homeobox 1
    • PHOX1
  • paired-like homeobox 2B
    • neuroblastoma paired-type homeobox gene
    • paired mesoderm homeobox 2B
  • paired-like homeodomain 1
  • paired-like homeodomain 2
    • all1-responsive gene 1
    • paired-like homeodomain transcription factor 2
    • pituitary homeobox 2
    • rieg bicoid-related homeobox transcription factor 1
  • paired-like homeodomain 3
    • anterior segment mesenchymal dysgenesis
    • paired-like homeodomain transcription factor 3
  • palmitoyl-protein thioesterase 1
    • ceroid-lipofuscinosis, neuronal 1, infantile
    • palmitoyl-protein thioesterase
    • palmitoyl-protein thioesterase 1
  • pancreas specific transcription factor, 1A
  • parathyroid hormone
    • parathormone
    • parathyrin
  • parathyroid hormone 1 receptor
    • parathyroid hormone receptor 1
    • parathyroid hormone/parathyroid hormone-related protein receptor
    • PTH receptor
    • PTH/PTHRP receptor
  • partner and localizer of BRCA2
    • fanconi anaemia, complementation group N
    • fanconi anemia, complementation group N
  • patatin-like phospholipase domain containing 1
    • dJ50J22.1
    • FLJ38755
  • patatin-like phospholipase domain containing 2
    • ATGL
    • desnutrin
    • FP17548
    • iPLA2zeta
    • TTS-2.2
  • patched 1
    • holoprosencephaly 7, included
    • patched homolog (drosophila)
    • patched homolog 1 (drosophila)
    • patched, drosophila, homolog of
  • patched domain containing 1
    • FLJ30296
  • pejvakin
    • deafness, autosomal recessive 59
  • peptidase D
    • 0
  • peroxisomal biogenesis factor 1
    • peroxin 1
  • peroxisomal biogenesis factor 10
    • peroxin 10
  • peroxisomal biogenesis factor 12
    • peroxin 12
  • peroxisomal biogenesis factor 13
    • peroxisome biogenesis factor 13
  • peroxisomal biogenesis factor 14
  • peroxisomal biogenesis factor 16
  • peroxisomal biogenesis factor 19
  • peroxisomal biogenesis factor 26
    • peroxin 26
    • peroxisome biogenesis factor 26
  • peroxisomal biogenesis factor 3
  • peroxisomal biogenesis factor 5
  • peroxisomal biogenesis factor 6
    • peroxin 6
    • peroxisomal assembly factor 2
    • peroxisomal-type ATPase 1
  • peroxisomal biogenesis factor 7
    • peroxin 7
    • peroxisomal pts2 receptor
    • peroxisome biogenesis factor 7
  • PET100 homolog
    • 0
  • PHD finger protein 21A
    • BHC80
    • BM-006
    • KIAA1696
  • PHD finger protein 6
    • CENP-31
    • KIAA1823
    • MGC14797
  • PHD finger protein 8
    • JHDM1F
    • KIAA1111
    • ZNF422
  • phenylalanine hydroxylase
    • folling disease
    • hyperphenylalaninemia, mild, included
    • oligophrenia phenylpyruvica
    • pah deficiency
    • phenylalanine hydroxylase deficiency
    • phenylalanine hydroxylase, included
    • phenylalaninemia, included
    • phenylketonuria
    • pku
    • pku1, included
  • phosphatase and tensin homolog
    • mutated in multiple advanced cancers 1
    • phosphatase and tensin homolog
    • phosphatase and tensin homolog deleted on chromosome 10
  • phosphate cytidylyltransferase 1, choline, alpha
    • CT
    • CTPCT
  • phosphatidylinositol glycan anchor biosynthesis, class A
    • phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)
  • phosphatidylinositol glycan anchor biosynthesis, class L
    • 0
  • phosphatidylinositol glycan anchor biosynthesis, class N
    • MDC4
    • PIG-N
  • phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
    • p110-alpha
    • phosphatidylinositol 3-kinase, catalytic, 110-kD, alpha
    • phosphoinositide-3-kinase, catalytic, alpha polypeptide
    • PI3K-alpha
    • PIK3-alpha
  • phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
    • KIAA0589
    • LCCS3
    • PIP5Kgamma
  • phosphatidylserine synthase 1
  • phosphodiesterase 4D
    • dunce-like phosphodiesterase e3, formerly
    • phosphodiesterase 4D, cAMP-specific
    • phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3
  • phosphodiesterase 6G
    • phosphodiesterase 6G, cGMP-specific, rod, gamma
    • retinal rod photoreceptor cGMP phosphodiesterase, gamma subunit
  • phosphodiesterase 6H
    • 0
  • phosphofurin acidic cluster sorting protein 1
    • FLJ10209
    • KIAA1175
  • phosphoglucomutase 3
    • AGM1
    • DKFZP434B187
    • PAGM
  • phosphoglycerate dehydrogenase
    • PDG
    • PGDH
    • SERA
  • phosphoglycerate kinase 1
    • 3-phosphoglycerokinase
  • phosphoinositide-3-kinase, regulatory subunit 1
    • phosphatidylinositol 3-kinase, regulatory subunit, 85-KD, alpha
    • phosphatidylinositol 3-kinase-associated p85-alpha
    • phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
  • phospholipase A2, group VI
    • phospholipase A2, group VI (cytosolic, calcium-independent)
  • phospholipase C, beta 4
    • phospholipase C, beta 4
  • phospholipase C, gamma 2
    • phospholipase C, gamma 2 (phosphatidylinositol-specific)
    • phospholipase C, phosphatidylinositol-specific
  • phosphomannomutase 2
  • phosphoserine aminotransferase 1
    • PSA
  • phosphoserine phosphatase
    • 0
  • piezo type mechanosensitive ion channel component 2
    • FLJ23144
    • FLJ23403
    • FLJ34907
    • HsT748
    • HsT771
  • PKHD1, fibrocystin/polyductin
    • fibrocystin
    • PKHD1 gene
    • polycystic kidney and hepatic disease 1 (autosomal recessive)
    • polycystic kidney and hepatic disease 1 gene
    • polyductin
    • tigmin
  • platelet derived growth factor receptor beta
    • CD140b
    • JTK12
    • PDGFR1
  • platelet-activating factor acetylhydrolase 1B, regulatory subunit 1
    • LIS 1 gene
    • lissencephaly-1 gene
    • PAFAH 1b1
    • platelet-activating factor acetylhydrolase, isoform 1B, alpha subunit
    • platelet-activating factor acetylhydrolase, isoform IB, alpha subunit 45kda
  • plectin
  • plexin D1
    • KIAA0620
  • PMS1 homolog 2, mismatch repair system component
    • PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
  • POC1 centriolar protein A
    • DKFZP434C245
  • POC1 centriolar protein B
  • polo like kinase 4
    • Sak
  • poly(ADP-ribose) polymerase 1
    • PARP
  • poly(U) binding splicing factor 60
    • FIR
    • poly(U) binding splicing factor 60KDa
    • RoBPI
    • SIAHBP1
  • polyglutamine binding protein 1
    • 0
  • polyhomeotic homolog 1
    • HPH1
    • RAE28
  • polynucleotide kinase 3'-phosphatase
    • DNA kinase
    • polynucleotide kinase
    • polynucleotide kinase 3-prime phosphatase
  • polyribonucleotide nucleotidyltransferase 1
    • deafness, autosomal recessive 70
    • old-35
    • OLD35
    • PNPase
  • post-GPI attachment to proteins 2
    • CWH43-N
    • FRAG1
  • post-GPI attachment to proteins 3
    • CAB2
    • MGC9753
    • PER1
    • PP1498
  • potassium calcium-activated channel subfamily M alpha 1
    • potassium channel, calcium activated large conductance subfamily M alpha, member 1
    • potassium large conductance calcium-activated channel, subfamily M, alpha member 1
  • potassium channel tetramerization domain containing 1
    • 0
  • potassium two pore domain channel subfamily K member 9
    • K2p9.1
    • TASK-3
    • TASK3
  • potassium voltage-gated channel subfamily C member 3
    • potassium channel, voltage gated Shaw related subfamily C, member 3
    • potassium voltage-gated channel, Shaw-related subfamily, member 3
    • spinocerebellar ataxia 13
  • potassium voltage-gated channel subfamily H member 1
    • eag
    • eag1
    • h-eag
    • Kv10.1
  • potassium voltage-gated channel subfamily H member 5
    • eag2
    • H-EAG2
    • Kv10.2
  • potassium voltage-gated channel subfamily J member 10
    • potassium inwardly-rectifying channel, subfamily J, member 10
  • potassium voltage-gated channel subfamily J member 11
    • beta-cell inward rectifier subunit
    • inwardly rectifying potassium channel KIR6.2
    • potassium channel, inwardly rectifying, BIR subunit
    • potassium channel, inwardly rectifying, subfamily J, member 11
    • potassium inwardly-rectifying channel, subfamily J, member 11
  • potassium voltage-gated channel subfamily Q member 1
    • potassium channel, voltage gated KQT-like subfamily Q, member 1
    • potassium channel, voltage-gated, KQT-like subfamily, member 1
    • potassium channel, voltage-gated, shaker-related subfamily, member 9
    • potassium voltage-gated channel, KQT-like subfamily, member 1
  • potassium voltage-gated channel subfamily Q member 2
    • potassium channel, voltage-gated, subfamily Q, member 2
    • potassium voltage-gated channel, KQT-like subfamily, member 2
  • POU class 1 homeobox 1
    • growth hormone factor 1
    • pituitary hormone deficiency, combined, included
    • pituitary-specific transcription factor 1
    • POU domain, class 1, transcription factor 1
    • POU domain, class 1, transcription factor 1 (pit1, growth hormone factor 1)
  • procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
    • lysine hydroxylase
    • lysyl hydroxylase
    • lysyl hydroxylase 1
    • procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
  • procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
    • procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2
  • procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
  • prolyl endopeptidase-like
    • KIAA0436
  • PROP paired-like homeobox 1
    • pituitary hormone deficiency, combined, included
    • prophet of pit1, paired-like homeodomain transcription factor
  • propionyl-CoA carboxylase, alpha subunit
    • pccA complementation group
    • propionyl Coenzyme A carboxylase, alpha polypeptide
  • propionyl-CoA carboxylase, beta subunit
    • propionyl Coenzyme A carboxylase, beta polypeptide
  • prosaposin
  • protease, serine 12
    • BSSP-3
    • MRT1
  • protease, serine 56
    • 0
  • proteasome subunit beta 8
    • beta5i
    • D6S216E
    • PSMB5i
    • RING10
  • protein arginine methyltransferase 9
    • FLJ46629
  • protein kinase cAMP-dependent type I regulatory subunit alpha
    • protein kinase cAMP-dependent, regulatory, type I, alpha
    • protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)
    • tissue-specific extinguisher 1
  • protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
    • AGO61
    • FLJ14566
  • protein O-mannosyltransferase 1
  • protein phosphatase 2 regulatory subunit B'delta
    • B56D
  • protein phosphatase 2 scaffold subunit A, alpha
    • PP2A-Aalpha
    • PR65A
  • protein tyrosine phosphatase, non-receptor type 11
    • noonan syndrome 1
    • protein-tyrosine phosphatase 2c
    • protein-tyrosine phosphatase, nonreceptor-type, 11
    • tyrosine phosphatase shp2
  • protein tyrosine phosphatase, non-receptor type 14
    • PEZ
  • protein tyrosine phosphatase, receptor type F
    • 0
  • protein tyrosine phosphatase, receptor type Q
    • deafness, autosomal recessive 84
  • proteolipid protein 1
    • lipophilin
    • proteolipid protein, myelin
    • spastic paraplegia 2, uncomplicated
  • pterin-4 alpha-carbinolamine dehydratase 1
  • purine rich element binding protein A
    • PUR-ALPHA
    • PUR1
    • PURALPHA
  • pyrroline-5-carboxylate reductase 1
  • pyruvate dehydrogenase complex component X
    • DLDBP
    • E3BP
    • OPDX
    • PDX1
    • proX
  • pyruvate dehydrogenase E1 alpha 1 subunit
    • pyruvate dehydrogenase (lipoamide) alpha 1
    • pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
  • QKI, KH domain containing, RNA binding
    • QK3
  • quinoid dihydropteridine reductase
  • RAB, member RAS oncogene family-like 6
    • bA216L13.9
    • FLJ10101
    • FLJ13045
    • Parf
    • pp8875
    • RBEL1
  • RAB3 GTPase activating non-catalytic protein subunit 2
    • RAB3 GTPase activating protein subunit 2 (non-catalytic)
  • RAD21 cohesin complex component
    • hHR21
    • KIAA0078
    • SCC1
  • RAD50 double strand break repair protein
    • RAD50 (S. cerevisiae) homolog
    • RAD50 homolog (S. cerevisiae)
    • RAD50, s. cerevisiae, homolog of
  • RAD51 paralog C
    • RAD51 (S. cerevisiae) homolog C
    • RAD51 homolog C (S. cerevisiae)
  • RAD51 recombinase
    • BRCC5
    • FANCR
    • HsRad51
    • HsT16930
  • Raf-1 proto-oncogene, serine/threonine kinase
    • oncogene mil
    • oncogene raf1
    • transforming replication-defective murine retrovirus 3611-msv
    • v-raf-1 murine leukemia viral oncogene homolog 1
  • ral guanine nucleotide dissociation stimulator
    • RalGEF
    • RGDS
    • RGF
  • RAN binding protein 2
    • ADANE
    • NUP358
  • RAS p21 protein activator 1
  • receptor interacting serine/threonine kinase 4
    • ANKK2
    • DIK
    • PKK
    • RIP4
  • receptor tyrosine kinase-like orphan receptor 2
    • neurotrophic tyrosine kinase, receptor-related 2
  • recombination signal binding protein for immunoglobulin kappa J region
    • CBF1
    • IGKJRB
    • KBF2
    • RBP-J
    • RBPJK
    • SUH
  • RecQ-like helicase 4
    • DNA helicase, RECQ-like, type 4
    • RecQ protein-like 4
  • reelin
  • regulatory factor X6
    • regulatory factor X domain containing 1
    • regulatory factor X, 6
  • required for meiotic nuclear division 1 homolog
    • bA351K16.3
    • FLJ20627
    • RMD1
  • ret proto-oncogene
    • hirschsprung disease 1
    • rearranged during transfection protooncogene
    • ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, hirschsprung disease)
    • ret protooncogene
    • ret/elks fusion gene, included
  • retinoic acid induced 1
    • retinoic acid-induced gene 1
  • RFT1 homolog
    • CDG1N
  • ribonuclease H2, subunit B
    • aicardi gourieres syndrome 2
    • deleted in lymphocytic leukemia 8
  • ribonuclease H2, subunit C
    • aicardi gourieres syndrome 3
  • ribonuclease T2
    • bA514O12.3
    • FLJ10907
    • RNASE6PL
  • ribosomal protein S6 kinase, 90kDa, polypeptide 3
    • ribosomal protein S6 kinase, 90-kd, 3
    • ribosomal S6 kinase 2
  • ring finger protein 135
    • MGC13061
  • ring finger protein 168
    • FLJ35794
  • RNA binding motif protein 28
    • FLJ10377
  • RNA binding motif protein 8A
    • RNA-binding motif protein 8
  • RNA polymerase I subunit D
    • polymerase (RNA) I polypeptide D, 16kD
  • RNA polymerase III subunit A
    • hRPC155
    • polymerase (RNA) III subunit A
    • RPC1
    • RPC155
  • RNA polymerase III subunit B
    • FLJ10388
    • polymerase (RNA) III subunit B
    • RPC2
  • RPGRIP1-like
    • nephrocystin 8
  • RUN and cysteine rich domain containing beclin 1 interacting protein
    • KIAA0226 gene
    • RUN domain- and cysteine-rich domain-containing beclin-1-interacting protein
    • rundataxin
  • S-phase cyclin A associated protein in the ER
    • Zfp291
  • SATB homeobox 2
    • FLJ21474
    • KIAA1034
  • SCO2, cytochrome c oxidase assembly protein
    • SCO1L
  • scribbled planar cell polarity protein
    • KIAA0147
    • SCRB1
    • Vartul
  • serologically defined colon cancer antigen 8
  • serpin family B, member 6
    • deafness, autosomal recessive 91
    • serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6
    • serpin peptidase inhibitor, clade B (ovalbumin), member 6
  • SET domain containing 5
    • FLJ10707
  • SH3 and multiple ankyrin repeat domains 1
    • SPANK-1
    • SSTRIP
    • synamon
  • SH3 and multiple ankyrin repeat domains 3
    • KIAA1650
    • prosap2
    • PSAP2
    • SPANK-2
  • SH3 and PX domains 2B
  • short stature homeobox
    • pseudoautosomal homeobox-containing osteogenic gene
  • sine oculis binding protein homolog
    • FLJ10159
  • SLX4 structure-specific endonuclease subunit
    • BTB (POZ) domain containing 12
    • BTB/POZ domain-containing protein 12
    • MUS312, drosophila, homolog of
    • SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)
    • structure-specific endonuclease subunit SLX4
  • SMAD family member 2
    • JV18-1
    • MADR2
  • SMAD family member 3
    • MAD, mothers against decapentaplegic homolog 3 (Drosophila)
    • mothers against decapentaplegic, drosophila, homolog of, 3
    • SMA- and MAD-related protein 3
    • SMAD, mothers against DPP homolog 3 (Drosophila)
  • SMAD family member 4
    • deleted in pancreatic carcinoma 4
    • mothers against decapentaplegic, drosophila, homolog of, 4
    • SMA- and MADrelated protein 4
    • SMAD, mothers against DPP homolog 4 (drosophila)
  • SMAD nuclear interacting protein 1
    • 0
  • small nuclear ribonucleoprotein polypeptide E
    • Sm-E
  • small ubiquitin-like modifier 1
    • GMP1
    • OFC10
    • PIC1
    • SMT3C
    • SMT3H3
    • SUMO-1
  • sodium leak channel, non-selective
    • bA430M15.1
    • CanIon
  • sodium voltage-gated channel alpha subunit 11
    • NaN
    • Nav1.9
    • SNS-2
  • sodium voltage-gated channel beta subunit 1
    • sodium channel, voltage-gated, type I, beta
    • sodium channel, voltage-gated, type I, beta polypeptide
    • sodium channel, voltage-gated, type I, beta subunit
  • solute carrier family 13 member 5
    • solute carrier family 13 (sodium-dependent citrate transporter), member 5
  • solute carrier family 24 member 1
    • CSNB1D
    • HsT17412
    • KIAA0702
    • NCKX
    • NCKX1
    • RODX
  • solute carrier family 25 member 15
    • ornithine transporter, mitochondrial, 1
    • solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
  • solute carrier family 25 member 38
  • solute carrier family 33 member 1
    • acetyl-coA transporter
    • acetyl-Coenzyme A transporter
    • solute carrier family 33 (acetyl-CoA transporter) member 1
    • spastic paraplegia 42 (autosomal dominant)
  • solute carrier family 35 member A2
    • solute carrier family 35 (UDP-galactose transporter) member A2
    • solute carrier family 35 (UDP-galactose transporter), member 2
  • solute carrier family 35 member D1
  • solute carrier family 39 member 13
    • solute carrier family 39 (metal ion transporter), member 13
    • solute carrier family 39 (zinc transporter) member 13
  • solute carrier family 46 member 1
  • solute carrier family 6 member 8
    • CRTR
    • CT1
  • solute carrier family 9 member A6
    • sodium/hydrogen exchanger 6
    • solute carrier family 9 (sodium/hydrogen exchanger), isoform 6
    • solute carrier family 9 (sodium/hydrogen exchanger), member 6
    • solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
  • solute carrier family 9 member A9
    • FLJ35613
    • NHE9
  • sorting nexin 14
    • RGS-PX2
  • spalt-like transcription factor 4
    • sal-like 4 (drosophila)
  • SPARC related modular calcium binding 2
    • SMAP2
  • SPEG complex locus
    • BPEG
    • KIAA1297
    • MGC12676
    • SPEGalpha
    • SPEGbeta
  • sperm antigen with calponin homology and coiled-coil domains 1 like
    • CYTSA
    • KIAA0376
  • sperm associated antigen 1
  • spermine synthase
    • MRSR
    • SPMSY
    • SpS
  • splicing factor 3b subunit 4
    • Hsh49
    • SAP49
    • SF3b49
  • SprT-like N-terminal domain
    • DKFZP547N043
    • DVC1
    • Spartan
  • SRY-box 17
  • SRY-box 3
    • 0
  • ST3 beta-galactoside alpha-2,3-sialyltransferase 5
    • sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)
  • STAM binding protein
    • AMSH
  • steroid 5 alpha-reductase 3
    • polyprenol reductase
    • steroid 5-alpha-reductase 2-like 1
  • STIL, centriolar assembly protein
    • CL/TAL1 interrupting locus
    • SCL-interrupting locus
    • SCL/TAL1 interrupting locus
    • TAL1 (SCL) interrupting locus
  • stimulated by retinoic acid 6
  • structural maintenance of chromosomes 3
    • BAM
    • bamacan
    • HCAP
    • SMC3L1
  • structural maintenance of chromosomes flexible hinge domain containing 1
    • SMC hinge domain-containing protein 1
    • structural maintenance of chromosomes flexible hinge domain-containing protein 1
  • STT3A, catalytic subunit of the oligosaccharyltransferase complex
    • MGC9042
    • STT3-A
    • TMC
  • STT3B, catalytic subunit of the oligosaccharyltransferase complex
    • FLJ90106
    • SIMP
    • STT3-B
  • succinate dehydrogenase complex flavoprotein subunit A
    • SDH1, homolog of
    • succinate dehydrogenase 1, s. cerevisiae, homolog of
    • succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
  • sulfatase modifying factor 1
  • SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2
    • BRM, drosophila, homolog of
    • SNF2-like 2
    • SNF2/SWI2, yeast, homolog of
    • sucrose nonfermenting, yeast, homolog-like 2
  • synapsin I
    • 0
  • SZT2, KICSTOR complex subunit
    • FLJ10387
    • FLJ34502
    • RP11-506B15.1
    • seizure threshold 2 homolog (mouse)
    • SZT2A
    • SZT2B
  • T-box 1
    • CATCH22
  • T-box 22
    • 0
  • TBC1 domain family member 24
    • deafness, autosomal recessive 86
  • tectonic family member 1
    • tectonic
    • tectonic 1
  • tectonic family member 2
    • chromosome 12 open reading frame 38
    • tectonic 2
  • tectonic family member 3
  • TELO2 interacting protein 2
    • FLJ23263
  • tetratricopeptide repeat domain 19
    • FLJ20343
    • MGC19520
  • tetratricopeptide repeat domain 37
  • tetratricopeptide repeat domain 7A
    • KIAA1140
  • THAP domain containing 1
    • dystonia 6, torsion (autosomal dominant)
    • THAP domain containing, apoptosis associated protein 1
  • thromboxane A synthase 1
  • thyroid hormone receptor interactor 11
  • trafficking protein particle complex 11
    • FLJ12716
    • foigr
    • gry
  • trafficking protein particle complex 2
  • trafficking protein particle complex 9
    • IKBKBBP
    • KIAA1882
    • MRT13
    • NIBP
    • T1
    • TRS120
  • transcription factor 4
    • immunoglobulin transcription factor 2
  • transducin beta-like 1 X-linked receptor 1
    • C21
    • DC42
    • FLJ12894
    • IRA1
    • TBLR1
  • transient receptor potential cation channel, subfamily M, member 1
    • melastatin 1
  • transient receptor potential cation channel, subfamily V, member 4
  • translational activator of cytochrome c oxidase I
    • 0
  • transmembrane 4 L six family member 20
    • FLJ22800
    • TCCE518
  • transmembrane protein 114
    • 0
  • transmembrane protein 135
    • FLJ22104
  • transmembrane protein 165
    • GDT1
    • TMPT27
    • TPARL
  • transmembrane protein 216
    • cerebello-oculo-renal syndrome 2
    • Meckel syndrome, type 2
  • transmembrane protein 67
  • tripartite motif containing 37
    • KIAA0898
    • POB1
    • TEF3
  • tripeptidyl peptidase 1
    • cln2 gene
  • tRNA methyltransferase 1
    • FLJ20244
    • TRM1
  • tRNA splicing endonuclease subunit 2
    • TSEN2 tRNA splicing endonuclease subunit
  • tRNA splicing endonuclease subunit 34
    • TSEN34 tRNA splicing endonuclease subunit
  • tRNA splicing endonuclease subunit 54
    • TSEN54 tRNA splicing endonuclease subunit
  • tubulin alpha 1A
    • tubulin, alpha, brain-specific
  • tubulin alpha 8
    • tubulin, alpha-like 2
  • tubulin beta 2A class IIa
    • dJ40E16.7
  • tubulin beta 2B class IIb
    • tubulin, beta 2B
  • tubulin beta 4A class IVa
    • beta-5
  • tubulin folding cofactor E
  • tudor domain containing 7
    • PCTAIRE2BP
  • tumor suppressor candidate 3
    • MGC13453
    • MRT7
    • N33
    • OST3A
  • tyrosinase
    • OCA1
    • OCA1A
    • OCAIA
  • tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
    • FLJ45465
  • ubiquitin specific peptidase 9, X-linked
    • DFFRX
    • FAF
    • MRX99
  • ubiquitin-conjugating enzyme E2A
    • RAD6, yeast, homolog of, type A
    • ubiquitin-conjugating enzyme E2A (RAD6 homolog)"
  • UDP-galactose-4-epimerase
  • urocanate hydratase 1
    • FLJ31300
    • HMFN0320
  • UV stimulated scaffold protein A
    • 0
  • vaccinia related kinase 1
  • vacuolar protein sorting 13 homolog B
    • vacuolar protein sorting 13 homolog B (yeast)
  • vasoactive intestinal peptide
    • 0
  • WD repeat containing planar cell polarity effector
  • WD repeat containing, antisense to TP53
    • WD repeat domain 79
  • WD repeat domain 11
    • DR11
    • FLJ10506
    • HH14
    • KIAA1351
    • SRI1
    • WDR15
  • WD repeat domain 34
  • WD repeat domain 35
  • WD repeat domain 45
    • WD repeat domain, X-linked 1
  • WD repeat domain 45B
    • WIPI3
  • WD repeat domain 60
  • WD repeat domain 62
    • chromosome 19 open reading frame 14
    • microcephaly, primary autosomal recessive 2
  • Wnt family member 1
    • wingless-type MMTV integration site family, member 1
    • Wnt family member 1
  • Wnt family member 3
    • wingless-type MMTV integration site family member 3
  • Wnt family member 4
    • wingless-type MMTV integration site family, member 4
  • WW domain containing adaptor with coiled-coil
    • BM-016
    • FLJ31290
    • MGC10753
    • PRO1741
    • Wwp4
  • X-prolyl aminopeptidase 3
    • X-prolyl aminopeptidase 3, mitochondrial
  • XPA, DNA damage recognition and repair factor
    • xeroderma pigmentosum, complementation group A
    • XPA complementing gene
  • Yes associated protein 1
    • YAP65
  • YY1 transcription factor
    • DELTA
    • INO80S
    • NF-E1
    • UCRBP
    • YIN-YANG-1
  • zinc finger and BTB domain containing 40
    • KIAA0478
    • ZNF923
  • zinc finger C4H2-type containing
    • HCA127
  • zinc finger CCHC-type containing 8
    • DKFZp434E2220
  • zinc finger DHHC-type containing 15
    • FLJ31812
    • MRX91
  • zinc finger DHHC-type containing 9
    • CGI-89
    • ZNF379
    • ZNF380
  • zinc finger E-box binding homeobox 2
    • smad-interacting protein 1
    • zinc finger homeobox 1B
  • zinc finger FYVE-type containing 26
    • spastic paraplegia 15 (complicated, autosomal recessive)
    • spastizin
    • SPG15 gene
    • zinc finger, FYVE domain containing 26
  • zinc finger MYM-type containing 6
    • Buster2
    • MYM
    • ZBED7
    • ZNF198L4
  • zinc finger protein 599
    • FLJ30663
  • zinc finger protein 711
    • CMPX1
    • dJ75N13.1
    • MRX97
    • Zfp711
    • ZNF4
    • ZNF5
  • zinc finger protein 713
    • FLJ39963
  • zinc finger protein FOG family member 2
    • FOG2
    • hFOG-2
    • ZC2HC11B
    • ZNF89B
  • zinc finger SWIM-type containing 6
    • KIAA1577
2015
Diabetes Insipidus Disorders, Nephrogenic, 2 Gene Panel
  • Diabetes Insipidus, Nephrogenic, Autosomal
  • Diabetes Insipidus, Nephrogenic, X-Linked
    • Diabetes Insipidus, Nephrogenic, Type I
  • Nephrogenic Syndrome Of Inappropriate Antidiuresis
  • aquaporin 2
  • arginine vasopressin receptor 2
    • antidiuretic hormone receptor
    • nephrogenic diabetes insipidus
    • vasopressin v2 receptor
2016
Diabetes Insipidus, Nephrogenic, X-Linked
  • Diabetes Insipidus, Nephrogenic, X-Linked
    • Diabetes Insipidus, Nephrogenic, Type I
  • arginine vasopressin receptor 2
    • antidiuretic hormone receptor
    • nephrogenic diabetes insipidus
    • vasopressin v2 receptor
2010
Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans
  • Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans
    • Autosomal Dominant Insulin Receptoropathy
    • Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans, Type A
    • Insulin Receptor, Defect In, With Insulin-Resistant Diabetes Mellitus And Acanthosis Nigricans
    • Iran, Type A
    • Type A Insulin Resistance
  • insulin receptor
2008
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
  • Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
  • GLIS family zinc finger 3
2008

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