| Disease Browser
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Parent Node:
 Hypertrichosis (D006983) | ..Starting node
.. Ambras syndrome (C536605)
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Child Nodes:
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Sister Nodes: | ..Acromegaloid facial appearance syndrome (C535655)
| ..Amaurosis hypertrichosis (C536604)
| ..Ambras syndrome (C536605)
| ..Barber Say syndrome (C537908)
| ..CAHMR syndrome (C537959)
| ..Cantu syndrome (C535572)
| ..Cervical hypertrichosis neuropathy (C537956)
| ..Cervical Hypertrichosis with Underlying Kyphoscoliosis (C566142)
| ..Congenital hypertrichosis lanuginosa (C538389)
| ..Facial Hypertrichosis (C565029)
| ..Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation (C565331)
| ..Gorlin Chaudhry Moss syndrome (C537290)
| ..Hairy Ears (C562484)
| ..Hairy Ears, Y-Linked (C564029)
| ..Hairy elbows (C535618)
| ..Hairy nose tip (C535619)
| ..Hypertrichosis congenital generalized X-linked (C538388)
| ..Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia (C565016)
| ..Hypertrichosis, anterior cervical (C538390)
| ..Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy (C565492)
| ..Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features (C538391)
| ..Midphalangeal hair (C537471)
| ..Muller Barth Menger syndrome (C537370)
| ..Oliver-McFarlane syndrome (C536554)
| ..Ramon Syndrome (C535285)
| ..Schaap Taylor Baraitser syndrome (C536626)
| ..Wiedemann Grosse Dibbern syndrome (C536704)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 526 |
| Name: | Ambras syndrome |
| Definition: | |
| Alternative IDs: | OMIM:145701 |
| ParentIDs: | MESH:D006983 |
| TreeNumbers: | C17.800.329.875/C536605 |
| Synonyms: | AMBRAS SYNDROME |HTC1 |HYPERTRICHOSIS, CONGENITAL GENERALIZED |Hypertrichosis universalis congenita Ambras type |Hypertrichosis Universalis Congenita, Ambras Type |
| Slim Mappings: | Skin disease |
| Reference: |
MedGen: C536605
MeSH: C536605
OMIM: 145701;
Genes: HTC1; | | Phenotypes | | | Disease Causing ClinVar Variants | |
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