Testing Criteria

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Testing criteria Disorders Genes Date
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
  • Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
    • Ectodermal Dysplasia 3, Anhidrotic
    • Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant
  • ectodysplasin A receptor
    • downless, mouse, homolog of
    • ectodysplasin 1, anhidrotic receptor
    • ectodysplasin A1 isoform receptor
    • ectodysplasin receptor
    • EDA-A1 receptor
    • EDA-A1R
  • EDAR associated death domain
2008
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
  • Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
    • Ectodermal Dysplasia, Anhidrotic
    • Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
  • ectodysplasin A receptor
    • downless, mouse, homolog of
    • ectodysplasin 1, anhidrotic receptor
    • ectodysplasin A1 isoform receptor
    • ectodysplasin receptor
    • EDA-A1 receptor
    • EDA-A1R
  • EDAR associated death domain
2008
Ectodermal Dysplasia Plus 70 Gene Panel
  • Adermatoglyphia
    • Fingerprints, Absence Of
  • ADULT Syndrome
    • Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome
  • Alopecia Universalis Congenita
    • Atrichia, Generalized
  • Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
    • Aec Syndrome
    • Hay-Wells Syndrome
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
    • Arrhythmogenic Right Ventricular Cardiomyopathy 11
    • Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, And Mild Palmoplantar Keratoderma With Or Without Woolly Hair, Included
  • Atrichia With Papular Lesions
    • Papular Atrichia
  • 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
  • Bjornstad Syndrome
  • Breasts and/or Nipples, Aplasia or Hypoplasia of, 2
    • 0
  • Cantu Syndrome
    • Hypertrichotic Osteochondrodysplasia
  • Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
    • Dilated Cardiomyopathy With Woolly Hair, Keratoderma, And Tooth Agenesis
  • 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
  • Clouston Syndrome
    • Clouston Hidrotic Ectodermal Dysplasia
    • Ectodermal Dysplasia 2, Hidrotic
    • Ectodermal Dysplasia, Hidrotic
    • Ectodermal Dysplasia, Hidrotic, Autosomal Dominant
  • Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
    • Chime Syndrome
    • Glycosylphosphatidylinositol Biosynthesis Defect 5
    • Zunich Neuroectodermal Syndrome
  • Cranioectodermal Dysplasia 1
    • Levin Syndrome I
    • Sensenbrenner Syndrome
  • Cranioectodermal Dysplasia 2
  • Cranioectodermal Dysplasia 3
  • Cranioectodermal Dysplasia 4
  • Dental Anomalies And Short Stature
    • Platyspondyly With Amelogenesis Imperfecta
    • Tooth Agenesis, Selective, 6,
  • Dentin Dysplasia, Type I
    • Dentin Dysplasia, Shields Type I
    • Dentin Dysplasia, Type I, With Extreme Microdontia And Misshapen Teeth, Included
    • Radicular Dentin Dysplasia
    • Rootless Teeth
  • Dyskeratosis Congenita, X-Linked
    • Zinsser-Cole-Engman Syndrome
  • 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 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
    • Ectodermal Dysplasia 3, Anhidrotic
    • Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant
  • Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
    • Ectodermal Dysplasia, Anhidrotic
    • Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
  • Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
    • Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant
  • Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
    • Ectodermal Dysplasia, Anhidrotic
    • Ectodermal Dysplasia, Hypohidrotic
  • Ectodermal Dysplasia 4, Hair/Nail Type
    • Ectodermal Dysplasia, 'Pure' Hair/Nail Type
  • Ectodermal Dysplasia 7, Hair/Nail Type
    • 0
  • Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant
  • Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
  • Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency
  • Ectodermal Dysplasia-Syndactyly Syndrome 1
  • Ectodermal Dysplasia/Short Stature Syndrome
  • Ectodermal Dysplasia/Skin Fragility Syndrome
    • McGrath Syndrome
  • Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
    • Eec Syndrome 3
  • Ellis-Van Creveld Syndrome
    • Chondroectodermal Dysplasia
    • Mesoectodermal Dysplasia
  • Epidermolytic Hyperkeratosis
    • Bullous Congenital Ichthyosiform Erythroderma
    • Bullous Erythroderma Ichthyosiformis Congenita Of Brocq
    • Bullous Ichthyosiform Erythroderma
    • Epidermolytic Hyperkeratosis
    • Epidermolytic Hyperkeratosis, Late-Onset, Included
  • Fibrochondrogenesis 1
  • Focal Dermal Hypoplasia
    • Fodh|Goltz Syndrome
    • Goltz-Gorlin Syndrome
  • Focal Facial Dermal Dysplasia 3, Setleis Type
  • Glass Syndrome
    • Chromosome 2q32-q33 Deletion 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
  • Hyper-IgE Recurrent Infection Syndrome, Autosomal Recessive
    • HIES, Autosomal Recessive
    • Hyper-IgE Syndrome, Autosomal Recessive
  • Hypotrichosis 4
    • Hypotrichosis, Marie Unna Type, 1
    • Marie Unna Hereditary Hypotrichosis 1
  • Hypotrichosis 7
    • Hypotrichosis, Autosomal Recessive
    • Hypotrichosis, Localized, Autosomal Recessive 2
    • Hypotrichosis, Total, Mari Type
  • Hypotrichosis 8
    • Hypotrichosis, Localized, Autosomal Recessive 3
  • IFAP Syndrome With Or Without BRESHECK Syndrome
    • Ichthyosis Follicularis, Atrichia, And Photophobia With Or Without Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And Kidney Dysplasia/Hypoplasia
  • Insensitivity to Pain, Congenital, with Anhidrosis
    • Familial Dysautonomia, Type II
    • Hereditary Sensory And Autonomic Neuropathy IV
    • Neuropathy, Congenital Sensory, With Anhidrosis
  • Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
    • KID Syndrome, Autosomal Dominant
  • Marshall Syndrome
  • Naegeli-Franceschetti-Jadassohn Syndrome
    • Naegeli Syndrome
    • NFJ Syndrome
  • Nail Disorder, Nonsyndromic Congenital, 10
    • Claw-Shaped Nails
    • Onychauxis, Hyponychia, And Onycholysis
  • Naxos Disease
    • Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities
    • Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy
    • Mal De Naxos
    • Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair
    • Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities
  • Noonan Syndrome-Like Disorder With Loose Anagen Hair
    • Tosti Syndrome
  • Oculodentodigital Dysplasia
    • Oculodentoosseous Dysplasia
    • Odd Syndrome
  • Odontoonychodermal Dysplasia
  • Oligodontia-Colorectal Cancer Syndrome
    • Tooth Agenesis-Colorectal Cancer Syndrome
  • Orofacial Cleft 6, Susceptibility To
    • Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 6
  • Pachyonychia Congenita 1
    • Jadassohn-Lewandowsky Syndrome
    • Pachyonychia Congenita, Jadassohn-Lewandowsky Type
    • Pachyonychia Congenita, Type 1
  • Pachyonychia Congenita 2
    • Pachyonychia Congenita, Jackson-Lawler Type
    • Pachyonychia Congenita, Type 2
  • Pachyonychia Congenita 3
    • 0
  • Pachyonychia Congenita 4
    • 0
  • Palmoplantar Carcinoma, Multiple Self-Healing
    • Corneal Intrepithelial Dyskeratosis and Ectodermal Dysplasia
  • Palmoplantar Keratoderma With Congenital Alopecia
    • Keratoderma-Hypotrichosis-Leukonychia
    • PPKCA, Stevanovic Type
    • Totalis Syndrome
  • Palmoplantar Keratoderma, Epidermolytic
    • Hyperkeratosis, Localized Epidermolytic
    • Keratoderma, Epidermolytic Palmoplantar
    • Keratosis Of Greither
    • Keratosis Palmaris Et Plantaris Familiaris
    • Palmoplantar Keratoderma, Epidermolytic, With Knuckle Pads, Included
    • Palmoplantar Keratoderma, Vorner Type
    • Tylosis
    • Unilateral Palmoplantar Verrucous Nevus, Included
    • Unna-Thost Disease, Epidermolytic
  • Papillon-Lefevre Syndrome
    • Pls|Keratosis Palmoplantaris With Periodontopathia
  • Popliteal Pterygium Syndrome
    • Cleft Lip/palate, Paramedian Mucous Cysts Of The Lower Lip, Popliteal Pterygium, Digital And Genital Anomalies
    • Faciogenitopopliteal Syndrome
  • Rapadilino Syndrome
  • Rapp-Hodgkin Syndrome
    • Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/palate
  • Rothmund-Thomson Syndrome
    • Poikiloderma Atrophicans And Cataract
  • Schopf-Schulz-Passarge Syndrome
    • Eccrine Tumors With Ectodermal Dysplasia
    • Keratosis Palmoplantaris With Cystic Eyelids, Hypodontia, And Hypotrichosis
  • Shaheen Syndrome
    • 0
  • Skin Fragility-Woolly Hair Syndrome
  • Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
    • Deafness, Congenital, With Split Hands And Feet
  • Split-Hand/Foot Malformation 6
    • Ectrodactyly, Autosomal Recessive
  • Stickler Syndrome, Type II
    • Stickler Syndrome, Beaded VItreous Type
    • Stickler Syndrome, VItreous Type 2
  • Tooth Agenesis, Selective, 3
    • Hypodontia/Oligodontia 3
  • Tooth Agenesis, Selective, 7
    • 0
  • Trichodentoosseous Syndrome
  • Trichothiodystrophy 1, Photosensitive
    • Ichthyosiform Erythroderma With Hair Abnormality And Mental And Growth Retardation
    • Pibids Syndrome
    • Tay Syndrome
    • Trichothiodystrophy With Congenital Ichthyosis
    • Trichothiodystrophy, Photosensitive
  • Tylosis With Esophageal Cancer
    • Keratosis Palmaris Et Plantaris With Esophageal Cancer
    • Palmoplantar Keratoderma With Esophageal Cancer
  • Van Der Woude Syndrome 1
    • Cleft Lip And/or Palate With Mucous Cysts Of Lower Lip
    • Lip-Pit Syndrome
  • Witkop Syndrome
    • Dysplasia Of Nails With Hypodontia
    • Tooth-And-Nail Syndrome
  • Woolly Hair, Autosomal Dominant
    • 0
  • Woolly Hair, Autosomal Recessive 1, With Or Without Hypotrichosis
    • 0
  • Woolly Hair, Autosomal Recessive 2, With Or Without Hypotrichosis
    • 0
  • Xeroderma Pigmentosum, Complementation Group D
    • Xeroderma Pigmentosum IV
    • XP, Group D
  • ATP-binding cassette, sub-family C, member 9
    • ATP-binding cassette, sub-family C (CFTR/MRP), member 9
    • sulfonylurea receptor 2
  • autoimmune regulator
    • autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
  • axin 2
    • axil
    • conductin
    • DKFZp781B0869
    • MGC126582
  • BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
  • cadherin 3
  • cathepsin C
    • DPP1
  • collagen, type XI, alpha 1 chain
    • collagen, type XI, alpha 1
    • collagen, type XI, alpha-1
  • component of oligomeric golgi complex 6
    • COD2
    • KIAA1134
  • dedicator of cytokinesis 8
  • desmocollin 2
    • desmocollin 3, formerly
    • desmosomal glycoprotein II/III
  • desmoplakin
    • desmoplakin I
    • desmoplakin II
  • distal-less homeobox 3
  • distal-less homeobox 5
    • 0
  • dyskerin pseudouridine synthase 1
    • dyskeratosis congenita 1, dyskerin
    • dyskerin
    • NOPP140-associated protein, 57-KD
  • ectodysplasin A
    • ectodysplasin
    • ectodysplasin A
    • ectodysplasin A1 isoform, included
    • ectodysplasin A2 isoform, included
    • ED1 gene
    • EDA-A1, included
    • EDA-A2, included
    • EDA1 gene
  • ectodysplasin A receptor
    • downless, mouse, homolog of
    • ectodysplasin 1, anhidrotic receptor
    • ectodysplasin A1 isoform receptor
    • ectodysplasin receptor
    • EDA-A1 receptor
    • EDA-A1R
  • ectodysplasin A2 receptor
    • 0
  • EDAR associated death domain
  • 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
  • EvC ciliary complex subunit 1
    • Ellis van Creveld
  • EvC ciliary complex subunit 2
    • Ellis van Creveld 2
  • frizzled class receptor 6
    • Hfz6
  • 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, 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
  • grainyhead-like transcription factor 2
    • deafness, autosomal dominant 28
    • grainyhead-like 2 (Drosophila)
    • transcription factor CP2-like 3
  • HR, lysine demethylase and nuclear receptor corepressor
    • AU
    • hair growth associated
  • 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
  • interferon regulatory factor 6
    • OFC6
    • VWS1
  • intraflagellar transport 122
    • SPG
    • WDR10p
    • WDR140
  • intraflagellar transport 43
  • junction plakoglobin
    • catenin (cadherin-associated protein), gamma 80kDa
    • catenin, gamma
    • desmoplakin III
    • plakoglobin
  • keratin 1
    • cytokeratin 1
    • epidermolytic hyperkeratosis
    • keratin 1
  • keratin 14
    • cytokeratin 14
    • keratin 14
    • keratin 14(epidermolysis bullosa simplex, dowling-meara, koebner)
  • keratin 16
    • cytokeratin 16
    • focal non-epidermolytic palmoplantar keratoderma
    • keratin 16
  • keratin 17
    • cytokeratin 17
  • keratin 6A
    • keratin, epidermal type II, K6A
  • keratin 6B
    • keratin, epidermal type II, K6B
  • keratin 74
    • K6IRS4
    • KRT5C
    • KRT6IRS4
  • keratin 85
    • keratin 85, type II
    • keratin, hair, basic, 5
  • keratin 9
    • epidermolytic palmoplantar keratoderma
    • keratin 9
  • latent transforming growth factor beta binding protein 3
  • LDL receptor related protein 6
    • low density lipoprotein receptor-related protein 6
  • lipase H
    • lipase, member H
  • lysophosphatidic acid receptor 6
    • purinergic receptor P2Y, G-protein coupled, 5
  • membrane bound transcription factor peptidase, site 2
    • keratosis follicularis spinulosa decalvans
    • membrane-bound transcription factor protease, site 2
  • msh homeobox 1
    • homeobox 7
    • msh homeo box homolog 1 (drosophila)
    • msh, drosophila, homolog of, 1
    • muscle segment homeobox, drosophila, homolog of, 1
  • nectin cell adhesion molecule 1
    • ED4
    • HVEC
    • PVRL1
  • nectin cell adhesion molecule 4
    • LNIR
    • nectin-4
    • PRR4
  • neurotrophic receptor, tyrosine kinase 1
    • high affinity nerve growth factor receptor
    • neurotrophic tyrosine kinase, receptor, type 1
  • NFKB inhibitor alpha
    • IkappaBalpha
    • IKBA
    • MAD-3
  • NLR family, pyrin domain containing 1
    • NACHT, leucine rich repeat and PYD (pyrin domain) containing 1
    • systemic lupus erythematosus, vitiligo-related 1
  • paired box 9
    • 0
  • phosphatidylinositol glycan anchor biosynthesis, class L
    • 0
  • plakophilin 1
    • plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
  • porcupine O-acyltransferase
    • MG61
    • por
    • PORC
    • porcupine homolog (Drosophila)
    • PPN
  • protein tyrosine phosphatase, receptor type F
    • 0
  • RecQ-like helicase 4
    • DNA helicase, RECQ-like, type 4
    • RecQ protein-like 4
  • rhomboid 5 homolog 2
    • rhomboid 5 homolog 2 (Drosophila)
    • rhomboid, veinlet-like 6 (Drosophila)
    • tylosis with oesophageal cancer
  • SATB homeobox 2
    • FLJ21474
    • KIAA1034
  • SHOC2, leucine-rich repeat scaffold protein
    • RAS-binding protein SUR8, c. elegans, homolog of
    • soc-2 (suppressor of clear, C.elegans) homolog
    • soc-2 suppressor of clear homolog (C. elegans)
  • SPARC related modular calcium binding 2
    • SMAP2
  • SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, containing DEAD/H box 1
    • 0
  • TNF receptor associated factor 6
    • TNF receptor-associated factor 6, E3 ubiquitin protein ligase
  • tumor protein P63
    • tumor protein P53-competing protein
    • tumor protein P53-like
    • tumor protein P73-like
  • twist family bHLH transcription factor 2
  • WD repeat domain 19
  • WD repeat domain 35
  • Wnt family member 10A
    • wingless-type MMTV integration site family, member 10A
  • Wnt family member 10B
    • wingless-type MMTV integration site family, member 10B
2017
Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency
  • Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency
  • 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
2009
EEC Syndrome 3 and Related Syndromes 2011
Ehlers Danlos Syndromes 8 Gene Panel
  • Brittle Cornea Syndrome 1
    • Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility
    • Dysgenesis Mesodermalis Corneae Et Sclerae
    • Ehlers-Danlos Syndrome, Type VIB
    • Fragilitas Oculi With Joint Hyperextensibility
  • Brittle Cornea Syndrome 2
  • Ehlers-Danlos Syndrome With Progressive Kyphoscoliosis, Myopathy, And Hearing Loss
  • Ehlers-Danlos Syndrome With Short Stature And Limb Anomalies
    • Dermatan Sulfate Proteoglycan
    • Ehlers-Danlos Syndrome, Progeroid Type, 1
    • Galactosyltransferase I Deficiency
    • PDS, Defective Biosynthesis Of
    • Proteodermatan Sulfate, Defective Biosynthesis Of
    • XGPT Deficiency
    • Xylosylprotein 4-Beta-Galactosyltransferase Deficiency
  • 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, 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 Recessive
    • Dermatosparaxis
    • Ehlers-Danlos Syndrome, Dermatosparaxis Type
  • MACS Syndrome
    • Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis
    • Tall Forehead, Sparse Hair, Skin Hyperextensibility, And Scoliosis
  • Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
    • SCD-EDS
  • ADAM metallopeptidase with thrombospondin type 1 motif, 2
    • a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2
  • beta-1,4-galactosyltransferase 7
    • xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
  • carbohydrate sulfotransferase 14
    • carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
    • dermatan 4 sulfotransferase 1
  • FK506 binding protein 14
    • FK506 binding protein 14 (22 kDa)
    • FK506 binding protein 14, 22 kDa
  • PR/SET domain 5
    • PR domain containing 5
  • procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
    • lysine hydroxylase
    • lysyl hydroxylase
    • lysyl hydroxylase 1
    • procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
  • Ras and Rab interactor 2
  • solute carrier family 39 member 13
    • solute carrier family 39 (metal ion transporter), member 13
    • solute carrier family 39 (zinc transporter) member 13
  • zinc finger protein 469
2014
Ehlers-Danlos Syndrome Due To Tenascin-X Deficiency
  • Ehlers-Danlos Syndrome Due To Tenascin-X Deficiency
  • tenascin XB
2017
Ehlers-Danlos Syndrome, Classic Type
  • Ehlers-Danlos Syndrome, Classic Type
    • Eds I
    • Ehlers-Danlos Syndrome, Gravis Type
    • Ehlers-Danlos Syndrome, Severe Classic Type
    • Ehlers-Danlos Syndrome, Type I
  • Ehlers-Danlos Syndrome, Type II
    • Ehlers Danlos Syndrome, Mild Classic Type
    • Ehlers Danlos Syndrome, Mitis Type
  • collagen, type V, alpha 1
    • alpha 1 type v collagen
  • collagen, type V, alpha 2 chain
    • ab collagen
    • collagen, fetal membrane, a polypeptide
    • collagen, type V, alpha 2
2010
Ehlers-Danlos Syndrome, Type VI
  • Ehlers-Danlos Syndrome, Type VI
    • Eds VI
    • Ehlers-Danlos Syndrome, Kyphoscoliotic Type
    • Ehlers-Danlos Syndrome, Ocular-Scoliotic Type
    • Ehlers-Danlos Syndrome, Type VIa, Formerly
  • procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
    • lysine hydroxylase
    • lysyl hydroxylase
    • lysyl hydroxylase 1
    • procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
2010
Ellis-Van Creveld Syndrome
  • Ellis-Van Creveld Syndrome
    • Chondroectodermal Dysplasia
    • Mesoectodermal Dysplasia
  • EvC ciliary complex subunit 1
    • Ellis van Creveld
  • EvC ciliary complex subunit 2
    • Ellis van Creveld 2
2010

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