| Disease Browser
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Parent Node:
 Ectodermal Dysplasia (D004476) | Parent Node:
Hair Diseases (D006201) | Parent Node:
Nail Diseases (D009260) | ..Starting node
.. ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
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Child Nodes:
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Sister Nodes: | ..Al Gazali Hirschsprung syndrome (C535615)
| ..Basaran Yilmaz syndrome (C537660)
| ..Brachydactyly type A5 nail dysplasia (C537091)
| ..Candidiasis, Familial, 3 (C564361)
| ..Dermatopathia pigmentosa reticularis (C535374)
| ..Double Nail for Fifth Toe (C565090)
| ..ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
| ..Endothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia (C565591)
| ..Epidermolysis bullosa, late-onset localized junctional, with mental retardation (C535492)
| ..FLOTCH syndrome (C537065)
| ..Hooft disease (C535329)
| ..Judge Misch Wright syndrome (C537692)
| ..Keratoderma palmoplantar spastic paralysis (C536153)
| ..Leukonychia totalis (C535889)
| ..Nail dysplasia, isolated congenital (C538333)
| ..Nail-Patella Syndrome (D009261)  1
| ..Nails, Ingrown (D009263)
| ..Odontomicronychial dysplasia (C537741)
| ..Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
| ..Onycholysis (D054039) 3
| ..Onychomycosis (D014009)
| ..Pachyonychia Congenita (D053549) 5
| ..Paronychia (D010304)
| ..Patel Bixler syndrome (C536306)
| ..Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails (C563941)
| ..Subungual exostoses (C535723)
| ..T-cell immunodeficiency, congenital alopecia and nail dystrophy (C536781)
| ..Toenail Dystrophy, Isolated (C564384)
| ..Trichoodontoonychial Dysplasia (C564760)
| ..TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH (OMIM:601675)
| ..Twenty-Nail Dystrophy (C562907)
| ..Yellow Nail Syndrome (D056684) 1
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 3604 |
| Name: | ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE |
| Definition: | |
| Alternative IDs: | |
| ParentIDs: | MESH:D004476|MESH:D006201|MESH:D009260 |
| TreeNumbers: | C16.131.077.350/602032 |C16.131.831.350/602032 |C16.320.850.250/602032 |C17.800.329/602032 |C17.800.529/602032 |C17.800.804.350/602032 |C17.800.827.250/602032 |
| Synonyms: | ECTD4 |ECTODERMAL DYSPLASIA, 'PURE' HAIR/NAIL TYPE |
| Slim Mappings: | Congenital abnormality|Genetic disease (inborn)|Skin disease |
| Reference: |
MedGen: 602032
MeSH: 602032
OMIM: 602032;
Genes: KRT85; | | Phenotypes | | | Disease Causing ClinVar Variants | | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_175053.3(KRT74):c.821T>C (p.Phe274Ser) | 121391 | KRT74 | Pathogenic | 147962513 | RCV000128478; RCV000128640; | N | Gene:101101771,MedGen:C3554117,OMIM:614929; MedGen:C1865951,OMIM:602032 | 12 | 52965165 | 52965165 | NM_175053.3:c.821T>C | NP_778223.2:p.Phe274Ser | NC_000012.11:g.52965165A>G | OMIM Allelic Variant:608248.0004 | C3554117 614929 Ectodermal dysplasia 7, hair/nail type; C1865951 602032 Ectodermal dysplasia, 'pure' hair-nail type | | | | NM_002283.3(KRT85):c.233G>A (p.Arg78His) | 3891 | KRT85 | Pathogenic | 61630004 | RCV000007238; RCV000056956; | N | MedGen:C1865951,OMIM:602032; MedGen:CN221809 | 12 | 52760957 | 52760957 | NM_002283.3:c.233G>A | NP_002274.1:p.Arg78His | NC_000012.11:g.52760957C>T | OMIM Allelic Variant:602767.0001 | C1865951 602032 Ectodermal dysplasia, 'pure' hair-nail type; CN221809 not provided | | |
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