| Disease Browser
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Parent Node:
 Hearing Loss, Sensorineural (D006319) | Parent Node:
Ichthyosis (D007057) | ..Starting node
.. HID Syndrome (C566528)
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Child Nodes:
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Sister Nodes: | ..Acquired ichthyosis (C538175)
| ..Camptodactyly-ichthyosis syndrome (C537976)
| ..Cataract and congenital ichthyosis (C538281)
| ..Deal Barratt Dillon syndrome (C538206)
| ..Dykes Markes Harper syndrome (C535727)
| ..Erythrokeratoderma, Reticular (C563781)
| ..Grover's disease (C537306)
| ..HID Syndrome (C566528)
| ..Ichthyosiform Erythroderma, Congenital (D016113)  18
| ..Ichthyosis Bullosa of Siemens (D053560)
| ..Ichthyosis cheek eyebrow syndrome (C536084)
| ..Ichthyosis Exfoliativa (C563978)
| ..Ichthyosis follicularis atrichia photophobia syndrome (C536085)
| ..Ichthyosis hystrix gravior (C536087)
| ..Ichthyosis hystrix, Curth Macklin type (C536088)
| ..Ichthyosis prematurity syndrome (C536271)
| ..Ichthyosis tapered fingers midline groove up (C536272)
| ..Ichthyosis Vulgaris (D016112) 1
| ..Ichthyosis with hypotrichosis, autosomal recessive (C536273) 1
| ..ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 (OMIM:612281)
| ..Ichthyosis, Congenital, Autosomal Recessive, Ichthyin-Related (C567370)
| ..Ichthyosis, Congenital, with Trichothiodystrophy (C566643)
| ..Ichthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis (C566554) 1
| ..Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis (C564365)
| ..Ichthyosis, mental retardation, dwarfism, and renal impairment (C536274)
| ..Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive (C565749)
| ..Ichthyosis, Split Hairs, and Amino Aciduria (C565471)
| ..Ichthyosis, X-Linked (D016114) 2
| ..Ichthyosis, X-Linked, Complicated (C567443)
| ..Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)
| ..Jagell Holmgren Hofer syndrome (C537364)
| ..Keratitis, Ichthyosis, and Deafness (KID) Syndrome (C536168)
| ..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
| ..Koone Rizzo Elias syndrome (C537023)
| ..Neu Laxova syndrome (C536405)
| ..Osteosclerosis with Ichthyosis and Fractures (C563483)
| ..Rud Syndrome (C535878)
| ..Ruzicka Goerz Anton syndrome (C537192)
| ..Sammartino De Crecchio Syndrome (C537229)
| ..Sjogren-Larsson Syndrome (D016111) 1
| ..Stormorken Syndrome (C566108)
| ..Trichodysplasia-Xeroderma (C566032)
| ..Zunich neuroectodermal syndrome (C536729)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 5176 |
| Name: | HID Syndrome |
| Definition: | |
| Alternative IDs: | OMIM:602540 |
| ParentIDs: | MESH:D006319|MESH:D007057 |
| TreeNumbers: | C09.218.458.341.887/C566528 |C10.597.751.418.341.887/C566528 |C16.131.831.512/C566528 |C16.614.492/C566528 |C17.800.428.333/C566528 |C17.800.804.512/C566528 |C23.888.592.763.393.341.887/C566528 |
| Synonyms: | HID SYNDROME |Hystrix-Like Ichthyosis with Deafness |Ichthyosis, Hystrix-Like, with Deafness |
| Slim Mappings: | Congenital abnormality|Ear-nose-throat disease|Infant-newborn disease|Nervous system disease|Signs and symptoms|Skin disease |
| Reference: |
MedGen: C566528
MeSH: C566528
OMIM: 602540;
Genes: GJB2; | | 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_004004.5(GJB2):c.148G>A (p.Asp50Asn) | 2706 | GJB2 | Pathogenic | 28931594 | RCV000175764; RCV000018546; RCV000018547; | N | MedGen:C1835678,OMIM:148210; MedGen:C1865234,OMIM:602540; MedGen:C2673759,OMIM:220290 | 13 | 20763573 | 20763573 | NM_004004.5:c.148G>A | NP_003995.2:p.Asp50Asn | NC_000013.10:g.20763573C>A,NC_000013.10:g.20763573C>T | OMIM Allelic Variant:121011.0020 | C2673759 220290 Deafness, autosomal recessive 1A; C1865234 602540 Hystrix-like ichthyosis with deafness; C1835678 148210 Keratitis-ichthyosis-deafness syndrome, autosomal dominant | | |
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