Testing Criteria

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Testing criteria Disorders Genes Date
Hajdu-Cheney Syndrome
  • Hajdu-Cheney Syndrome
    • Acroosteolysis With Osteoporosis And Changes In Skull And Mandible
    • Arthrodentoosteodysplasia
    • Cheney Syndrome
    • Serpentine Fibula-Polycystic Kidney Syndrome
  • notch 2
    • notch homolog 2 (drosophila)
2013
Hearing Loss, Syndromic and Non Syndromic, 95 Gene Panel
  • Auditory Neuropathy, Autosomal Dominant, 1
    • Auditory Neuropathy, Nonsyndromic Dominant
  • Branchiootic Syndrome 1
    • BO Syndrome 1
    • Branchiootic Dysplasia
  • Branchiootic Syndrome 3
    • Bo Syndrome 3
  • Branchiootorenal Syndrome 2
  • Chudley-Mccullough Syndrome
    • Deafness, Autosomal Recessive 82
    • Deafness, Sensorineural, With Partial Agenesis Of The Corpus Callosum And Arachnoid Cysts
  • Corneal Dystrophy And Perceptive Deafness
    • Corneal Dystrophy And Sensorineural Deafness
    • Harboyan Syndrome
  • Deafness, Autosomal Dominant 1
    • Deafness, Progressive Low Tone
    • Hereditary Low Frequency Hearing Loss
    • Konigsmark Syndrome
  • Deafness, Autosomal Dominant 10
  • Deafness, Autosomal Dominant 11
  • Deafness, Autosomal Dominant 12
    • Deafness, Autosomal Dominant 8
  • Deafness, Autosomal Dominant 13
  • Deafness, Autosomal Dominant 15
  • Deafness, Autosomal Dominant 17
    • Cochleosaccular Degeneration, Included
  • Deafness, Autosomal Dominant 20
  • Deafness, Autosomal Dominant 22
  • Deafness, Autosomal Dominant 23
  • Deafness, Autosomal Dominant 25
  • Deafness, Autosomal Dominant 28
  • Deafness, Autosomal Dominant 2A
  • Deafness, Autosomal Dominant 2B
  • Deafness, Autosomal Dominant 36
  • Deafness, Autosomal Dominant 3A
    • Connexin 26
    • Connexin 26- Related Deafness
    • Deafness, Neurosensory
    • Gap Junction Protein, 26-Kd
    • Non-Syndromic Sensorineural Hearing Loss (NSSHL)
  • Deafness, autosomal dominant 40
    • Deafness, Autosomal dominant 40
  • Deafness, Autosomal Dominant 41
  • Deafness, Autosomal Dominant 44
  • Deafness, Autosomal Dominant 48
  • Deafness, Autosomal Dominant 4A
    • Deafness, Autosomal Dominant 4
  • Deafness, Autosomal Dominant 4B
  • Deafness, Autosomal Dominant 5
  • Deafness, Autosomal Dominant 50
  • Deafness, Autosomal Dominant 51
    • Chromosome 9Q21.11 Duplication Syndrome
  • Deafness, Autosomal Dominant 6
    • Deafness, Autosomal Dominant 14
    • Deafness, Autosomal Dominant 38
  • Deafness, Autosomal Dominant 64
  • Deafness, Autosomal Dominant 9
  • Deafness, Autosomal Recessive 12
  • Deafness, Autosomal Recessive 15
    • Deafness, Autosomal Recessive 72
    • Deafness, Autosomal Recessive 95
  • Deafness, Autosomal Recessive 16
  • Deafness, Autosomal Recessive 18A
    • Deafness, Autosomal Recessive 18
  • Deafness, Autosomal Recessive 18B
  • Deafness, Autosomal Recessive 1A
    • Gap Junction Protein, Beta 2, 26kda
  • Deafness, Autosomal Recessive 1B
  • Deafness, Autosomal Recessive 2
    • Neurosensory Nonsyndromic Recessive Deafness 2
  • Deafness, Autosomal Recessive 21
  • Deafness, Autosomal Recessive 22
  • Deafness, Autosomal Recessive 23
  • Deafness, Autosomal Recessive 24
  • Deafness, Autosomal Recessive 25
  • Deafness, Autosomal Recessive 28
  • Deafness, Autosomal Recessive 29
  • Deafness, Autosomal Recessive 3
    • Neurosensory Nonsyndromic Recessive Deafness 3
  • Deafness, Autosomal Recessive 30
  • Deafness, Autosomal Recessive 31
    • Whirler, Mouse, Homolog Of
  • Deafness, Autosomal Recessive 35
  • Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
  • Deafness, Autosomal Recessive 37
  • Deafness, Autosomal Recessive 39
  • Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
    • Dilated Vestibular Aqueduct
    • Neurosensory Nonsyndromic Recessive Deafness 4
  • Deafness, Autosomal Recessive 42
  • Deafness, Autosomal Recessive 48
  • Deafness, Autosomal Recessive 49
  • Deafness, Autosomal Recessive 53
  • Deafness, Autosomal Recessive 59
  • Deafness, Autosomal Recessive 6
    • Neurosensory Nonsyndromic Recessive Deafness 6
  • Deafness, Autosomal Recessive 61
  • Deafness, Autosomal Recessive 63
  • Deafness, Autosomal Recessive 67
  • Deafness, Autosomal Recessive 7
    • Deafness, Autosomal Recessive 11
  • Deafness, Autosomal Recessive 70
  • Deafness, Autosomal Recessive 74
  • Deafness, Autosomal Recessive 77
  • Deafness, Autosomal Recessive 79
  • Deafness, Autosomal Recessive 8
    • Deafness, Autosomal Recessive 10
  • Deafness, Autosomal Recessive 84A
    • Deafness, Autosomal Recessive 84
    • Deafness, Autosomal Recessive 84A, With Vestibular Dysfunction
  • Deafness, Autosomal Recessive 89
  • Deafness, Autosomal Recessive 9
    • Neurosensory Nonsyndromic Recessive Deafness 9
  • Deafness, Autosomal Recessive 91
  • Deafness, Autosomal Recessive 93
  • Deafness, X-Linked 1
    • Deafness, X-Linked 2, Sensorineural Congenital
  • 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
  • Deafness, X-Linked 4
    • Deafness, Nonsyndromic Sensorineural Progressive 6
    • Deafness, X-Linked 6, Progressive
  • Erythrokeratodermia Variabilis Et Progressiva
    • Erythrokeratodermia Figurata, Congenital Familial, In Plaques
    • Erythrokeratodermia Variabilis
    • Erythrokeratodermia Variabilis With Erythema Gyratum Repens
    • Erythrokeratodermia, Progressive Symmetric
  • Pendred Syndrome
    • Deafness With Goiter
    • Goiter-Deafness Syndrome
    • Thyroid Hormone Organification Defect IIb, Included
    • Thyroid Hormonogenesis, Genetic Defect In, IIb, Included
  • Perrault Syndrome 2
  • Perrault Syndrome 3
    • Deafness, Autosomal Recessive 81
  • Perrault Syndrome 4
  • Piebald Trait
    • Piebaldism
  • Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
  • Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
    • East Syndrome
    • Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy
    • Sesame 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 IC
    • Usher Syndrome, Type I, Acadian Variety
  • Usher Syndrome, Type ID
    • CDH23/PCDH15, Digenic
    • Usher Syndrome, Type ID/F
  • Usher Syndrome, Type IF
  • Usher Syndrome, Type IG
  • Usher Syndrome, Type IIA
  • Usher Syndrome, Type IIC
  • Usher Syndrome, Type IID
  • Usher Syndrome, Type IIIA
    • Usher Syndrome, Type III
  • Usher Syndrome, Type IIIB
  • Usher Syndrome, Type IJ
  • Waardenburg Syndrome, Type 1
    • Waardenburg Syndrome With Dystopia Canthorum
  • Waardenburg Syndrome, Type 2A
    • Waardenburg Syndrome Without Dystopia Canthorum
    • Waardenburg Syndrome, Type IIA
  • Waardenburg Syndrome, Type 2D
    • Waardenburg Syndrome, Type IID
  • Waardenburg Syndrome, Type 2E
    • Hypogonadotropic Hypogonadism With Anosmia And Deafness, With Or Without Hypopigmentation
    • Waardenburg Syndrome, Type 2E, With Or Without Neurologic Involvement
    • Waardenburg Syndrome, Type IIE
    • WS2E, With Or Without Neurologic Involvement
  • Waardenburg Syndrome, Type 3
    • Klein-Waardenburg Syndrome
    • Waardenburg Syndrome With Upper Limb Anomalies
    • Waardenburg Syndrome, Type III
  • Waardenburg Syndrome, Type 4A
    • Shah-Waardenburg Syndrome
    • Waardenburg Syndrome With Hirschsprung Disease, Type 4A
    • Waardenburg Syndrome, Type IVA
    • Waardenburg-Shah Syndrome
  • Waardenburg Syndrome, Type 4B
    • Waardenburg Syndrome, Type 4B, With Hirschsprung Disease
    • Waardenburg Syndrome, Type IVB
  • Waardenburg Syndrome, Type 4C
    • Waardenburg Syndrome With Hirschsprung Disease, Type 4C
    • Waardenburg Syndrome, Type IVC
  • Wolfram Syndrome 1
    • Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness
    • Wolfram Syndrome
  • actin, gamma 1
    • actin, cytoplasmic, 2
    • actin, gamma
    • actin, gamma-1
    • cytoskeletal gamma-actin
  • adhesion G protein-coupled receptor V1
    • G protein-coupled receptor 98
    • monogenic, audiogenic seizure susceptibility 1 homolog (mouse)
    • very large G protein-coupled receptor 1
  • arachidonate lipoxygenase 3
  • ATPase plasma membrane Ca2+ transporting 2
    • ATPase, Ca++ transporting, plasma membrane 2
  • B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB
    • TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1
  • cadherin-related 23
    • cadherin related 23
    • cadherin-like 23
    • cadherin-related family, member 23
    • otocadherin
  • calcium and integrin binding family member 2
    • deafness, autosomal recessive 48
    • KIP2
    • Usher syndrome 1J (autosomal recessive)
  • calcium binding protein 2
  • carcinoembryonic antigen-related cell adhesion molecule 16
  • 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)
  • clarin 1
    • USH3A gene
    • Usher syndrome 3A
  • claudin 14
  • cochlin
    • coagulation factor C (Limulus polyphemus homolog); cochlin
    • coagulation factor C homolog, cochlin (Limulus polyphemus)
  • coiled-coil domain containing 50
    • deafness, autosomal dominant 44
  • collagen, type IV, alpha 6 chain
    • collagen, type IV, alpha 6
  • collagen, type IX, alpha 2
  • crystallin, mu
  • diablo, IAP-binding mitochondrial protein
  • diaphanous-related formin 1
    • diaphanous (Drosophila, homolog) 1
    • diaphanous homolog 1 (Drosophila)
  • diaphanous-related formin 3
    • auditory neuropathy, autosomal dominant 1
    • diaphanous (Drosophila, homolog) 3
    • diaphanous homolog 3 (Drosophila)
  • endothelin 3
  • endothelin receptor type B
    • ETB
  • espin
    • deafness, autosomal recessive 36
  • estrogen-related receptor beta
    • deafness, autosomal recessive 35
  • 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)
  • G protein signaling modulator 2
    • deafness, autosomal recessive 82
    • G-protein signalling modulator 2 (AGS3-like, C. elegans)
  • 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 3
    • erythrokeratodermia variabilis
    • gap junction protein, beta 3, 31kD (connexin 31)
    • gap junction protein, beta 3, 31kDa
    • gap junction protein, beta 3, 31kDa (connexin 31)
  • 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
  • gasdermin E
    • deafness, autosomal dominant 5
    • DFNA5, deafness associated tumor suppressor
  • GIPC PDZ domain containing family, member 3
    • chromosome 19 open reading frame 64
    • deafness, autosomal recessive 15
    • deafness, autosomal recessive 72
  • glutaredoxin and cysteine-rich domain containing 1
    • deafness, autosomal recessive 25
    • glutaredoxin, cysteine rich 1
  • grainyhead-like transcription factor 2
    • deafness, autosomal dominant 28
    • grainyhead-like 2 (Drosophila)
    • transcription factor CP2-like 3
  • hepatocyte growth factor
    • deafness, autosomal recessive 39
    • hepatocyte growth factor (hepapoietin A; scatter factor)
  • histidyl-tRNA synthetase
  • histidyl-tRNA synthetase 2, mitochondrial
    • histidyl-tRNA synthetase-like
  • hydroxysteroid 17-beta dehydrogenase 4
    • hydroxysteroid (17-beta) dehydrogenase 4
  • immunoglobulin-like domain containing receptor 1
    • deafness, autosomal recessive 42
  • KIT proto-oncogene receptor tyrosine kinase
    • piebald trait
    • v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
  • leucine rich transmembrane and O-methyltransferase domain containing
    • deafness, autosomal recessive 63
    • leucine rich repeat containing 51
  • leucyl-tRNA synthetase 2, mitochondrial
  • LHFPL tetraspan subfamily member 5
    • deafness, autosomal recessive 67
    • lipoma HMGIC fusion partner-like 5
  • lysyl-tRNA synthetase
    • deafness, autosomal recessive 89
  • MARVEL domain containing 2
    • deafness, autosomal recessive 49
    • MARVEL (membrane-associating) domain containing 2
  • melanogenesis-associated transcription factor
    • bHLHe32
    • MI
    • microphthalmia-associated transcription factor
    • Waardenburg syndrome, type 2A
  • methionine sulfoxide reductase B3
    • deafness, autosomal recessive 74
  • microRNA 96
    • deafness, autosomal dominant 50
  • myosin IA
  • myosin IIIA
    • deafness, autosomal recessive 30
  • myosin VI
    • deafness, autosomal recessive 37
  • myosin VIIA
    • myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))
    • myosin, unconventional, family VII, member A
  • myosin XVA
  • myosin, heavy chain 14
    • myosin, heavy chain 14
    • myosin, heavy chain 14, non-muscle
    • myosin, heavy polypeptide 14
  • myosin, heavy chain 9
    • myosin, heavy chain 9, non-muscle
    • myosin, heavy polypeptide 9, non-muscle
  • otoancorin
    • deafness, autosomal recessive 22
  • otoferlin
  • otogelin
  • paired box 3
    • paired domain gene hup2
  • PDZ domain containing 7
  • pejvakin
    • deafness, autosomal recessive 59
  • phosphoribosyl pyrophosphate synthetase 1
    • deafness, X-linked 2, perceptive, congenital
  • polyribonucleotide nucleotidyltransferase 1
    • deafness, autosomal recessive 70
    • old-35
    • OLD35
    • PNPase
  • potassium voltage-gated channel subfamily J member 10
    • potassium inwardly-rectifying channel, subfamily J, member 10
  • potassium voltage-gated channel subfamily Q member 4
    • potassium channel, voltage gated KQT-like subfamily Q, member 4
    • potassium voltage-gated channel, KQT-like subfamily, member 4
  • POU class 3 homeobox 4
    • POU domain class 3, transcription factor 4
  • POU class 4 homeobox 3
    • POU domain class 4, transcription factor 3
  • protein tyrosine phosphatase, receptor type Q
    • deafness, autosomal recessive 84
  • protocadherin-related 15
    • deafness, autosomal recessive 23
    • protocadherin 15
  • purinergic receptor P2X 2
    • deafness, autosomal dominant 41
    • purinergic receptor P2X, ligand gated ion channel
    • purinergic receptor P2X, ligand-gated ion channel, 2
  • radixin
    • deafness, autosomal recessive 24
  • retinitis pigmentosa GTPase regulator
    • retinitis pigmentosa gtpase regulator
  • 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
  • SIX homeobox 1
  • SIX homeobox 5
    • DM locus-associated homeodomain protein
  • small muscle protein, X-linked
    • deafness, X-linked 6, sensorineural
  • snail family transcriptional repressor 2
    • slug homolog, zinc finger protein (chicken)
    • snail family zinc finger 2
    • snail homolog 2 (Drosophila)
  • solute carrier family 17 member 8
    • deafness, autosomal dominant 25
    • solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8
    • solute carrier family 17 (vesicular glutamate transporter), member 8
  • solute carrier family 26 member 4
    • pendrin
  • solute carrier family 26 member 5
    • prestin (motor protein)
    • solute carrier family 26 (anion exchanger), member 5
  • solute carrier family 4 member 11
    • corneal dystrophy and perceptive deafness 1
    • corneal endothelial dystrophy 2 (autosomal recessive)
    • solute carrier family 4, sodium bicarbonate transporter-like, member 11
    • solute carrier family 4, sodium borate transporter, member 11
  • SRY-box 10
    • SRY (sex determining region Y)-box 10
  • stereocilin
  • taperin
    • chromosome 9 open reading frame 75
    • deafness, autosomal recessive 79
  • tectorin alpha
  • tight junction protein 2
    • deafness, autosomal dominant 51
  • transmembrane channel-like 1
    • transmembrane, cochlear expressed, 1
  • transmembrane inner ear
    • deafness, autosomal recessive 6
  • transmembrane protease, serine 3
  • TRIO and F-actin binding protein
  • USH1 protein network component harmonin
    • deafness, autosomal recessive 18
    • harmonin
    • PDZ domain-containing protein, 73-kDa
    • Usher syndrome 1C (autosomal recessive, severe)
  • USH1 protein network component sans
    • scaffold protein containing ankyrin repeats and SAM domain
    • USH1G gene
    • Usher syndrome 1G (autosomal recessive)
  • usherin
    • USH2A gene
    • Usher syndrome 2A (autosomal recessive, mild)
  • whirlin
    • CASK-interacting protein, 98-kDa
    • deafness, autosomal recessive 31
  • wolframin ER transmembrane glycoprotein
    • wfs1 gene
    • Wolfram syndrome 1 (wolframin)
    • wolframin
2014
Hemihyperplasia, Isolated
  • Hemihyperplasia, Isolated
    • Hemi-3 Syndrome, Included
    • Hemihyperplasia
    • Hemihypertrophy, Isolated
  • cyclin-dependent kinase inhibitor 2A
    • CDK4 inhibitor
    • cyclin-dependent kinase inhibitor 2A
    • cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)
    • multiple tumor suppressor 1
  • H19, imprinted maternally expressed transcript (non-protein coding)
    • H19, imprinted maternally expressed transcript h19
    • H19, imprinted maternally expressed untranslated mRNA
  • insulin-like growth factor 2
    • insulin-like growth factor 2 (somatomedin a)
    • somatomedin a
  • KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
    • KCNQ1 overlapping transcript 1 (non-protein coding)
    • long QT intronic transcript 1
    • non-protein coding RNA 12
2008
Hemiplegic Migraine 6 Gene Panel
  • Alternating Hemiplegia Of Childhood 1
  • Dystonia 9
    • Choreoathetosis, Kinesigenic, With Episodic Ataxia And Spasticity
    • Choreoathetosis/Spasticity, Episodic
    • CSE Choreoathetosis, Paroxysmal, With Episodic Ataxia
  • Episodic Ataxia, Type 6
  • Episodic Kinesigenic Dyskinesia 1
    • Dystonia 10
    • Dystonia, Familial Paroxysmal
    • Paroxysmal Kinesigenic Choreoathetosis
    • Paroxysmal Kinesigenic Dyskinesia
  • Migraine, Familial Hemiplegic, 1
    • Familial Hemiplegic Migraine
    • Familial Hemiplegic Migraine With Progressive Cerebellar Ataxia
    • Migraine, Familial Hemiplegic 1, With Progressive Cerebellar Ataxia, Included
    • Migraine, Sporadic Hemiplegic, Included
    • Sporadic Hemiplegic Migraine
  • Migraine, Familial Hemiplegic, 2
  • Migraine, Familial Hemiplegic, 3
  • ATPase Na+/K+ transporting subunit alpha 2
    • ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide
    • ATPase, Na+/K+ transporting, alpha 2 polypeptide
    • migraine, hemiplegic 2
    • Na,K-ATPase, alpha-a(+) catalytic polypeptide
    • Na,K-ATPase, alpha-b polypeptide
    • sodium-potassium-ATPase, alpha-2 polypeptide
  • calcium voltage-gated channel subunit alpha 1A
    • calcium channel, l type, alpha-1 polypeptide, isoform 4
    • calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
    • calcium channel, voltage-dependent, P/Q type, alpha-1A subunit
  • proline-rich transmembrane protein 2
  • sodium voltage-gated channel alpha subunit 1
    • sodium channel, brain type i, alpha subunit
    • sodium channel, voltage-gated, type I, alpha subunit
  • solute carrier family 1 member 3
    • excitatory amino acid transporter 1
    • glial high affinity glutamate transporter
    • glutamate/aspartate transporter, high affinity, sodium-dependent
    • solute carrier family 1 (glial high affinity glutamate transporter), member 3
  • solute carrier family 2 member 1
    • erythrocyte/hepatoma glucose transporter
    • glucose transporter 1
    • solute carrier family 2 (facilitated glucose transporter), member 1
2014
Hemochromatosis
  • Hemochromatosis, Type 1
    • Haemochromatosis
    • Haemochromatosis, Heridtary
    • Hemochromatosis Gene, Included
    • Hemochromatosis, Hereditary
    • Hlah
  • hemochromatosis
    • haemochromatosis
    • haemochromatosis gene, included
    • haemochromatosis, herditary
    • hemochromatosis gene, included
    • hemochromatosis, hereditary
    • HFE gene
2012
Hemochromatosis Type 2A and 2B
  • Hemochromatosis, Type 2A
    • Haemochromatosis, Juvenile
    • Haemochromatosis, Type 2A
    • Hemochromatosis Due To Defect In Hemojuvelin, Included
    • Hemochromatosis, Juvenile
    • Hemochromatosis, Type 2
  • Hemochromatosis, Type 2B
    • Haemochromatosis, Type 2B
  • hemochromatosis type 2 (juvenile)
    • haemochromatosis type 2 (juvenile)
    • hemojuvelin
  • hepcidin antimicrobial peptide
    • hepcidin
    • liver-expressed antimicrobial peptide
2009
Hemochromatosis, Type 4
  • Hemochromatosis, Type 4
    • Haemochromatosis Due To Defect In Ferroportin
    • Haemochromatosis, Autosomal Dominant
    • Haemochromatosis, Type 4
    • Hemochromatosis Due To Defect In Ferroportin
    • Hemochromatosis, Autosomal Dominant
  • solute carrier family 40 member 1
    • ferroportin 1
    • iron-regulated transporter 1
    • solute carrier family 40 (iron-regulated transporter), member 1
2009
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
  • Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
    • Ahus, Susceptibility To, 1
  • CD46 molecule
    • CD46 molecule, complement regulatory protein
    • MCP
    • MIC10
  • complement factor H
    • age-related maculopathy susceptibility 1
    • beta-1H
    • complement factor H
    • factor H
    • factor H and factor H-like 1, combined deficiency of, included
    • factor H-like 1, included
    • H factor 1
    • H factor 2 (complement)
  • complement factor I
    • C3B-inactivator
    • konglutinogen-activating factor
2010
Hennekam Lymphangiectasia-Lymphedema Syndrome
  • Hennekam Lymphangiectasia-Lymphedema Syndrome
    • Lymphatic Dysplasia, Generalized
  • collagen and calcium binding EGF domains 1
2010
Hereditary Distal Neuropathy, Autosomal Dominant
  • Neuronopathy, Distal Hereditary Motor, Type IIA
    • Charcot-Marie-Tooth Disease, Spinal, IIA
    • Neuropathy, Distal Hereditary Motor, Type IIA
    • Spinal Muscular Atrophy, Distal, Adult, Autosomal Dominant, IIA
  • Neuronopathy, Distal Hereditary Motor, Type IIB
    • Neuropathy, Distal Hereditary Motor, Type IIB
  • Neuronopathy, Distal Hereditary Motor, Type VA
    • Neuronopathy, Distal Hereditary Motor, Type V
    • Neuropathy, Distal Hereditary Motor, Type V
    • Spinal Muscular Atrophy, Distal, Type V
    • Spinal Muscular Atrophy, Distal, With Upper Limb Predominance
  • BSCL2, seipin lipid droplet biogenesis associated
    • berardinelli-seip congenital lipodystrophy 2 (seipin)
    • gng3lg, mouse, homolog of
  • heat shock protein family B (small) member 1
    • heat shock 27kDa protein 1
  • heat shock protein family B (small) member 8
    • heat shock 22kDa protein 8
2010

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