Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandAlbinism (D000417)
Parent Node:
expandAnodontia (D000848)
Parent Node:
expandDwarfism (D004392)
Parent Node:
expandEye Abnormalities (D005124)
Parent Node:
expandHypotrichosis (D007039)
..Starting node
..expandBrachymetapody-Anodontia-Hypotrichosis-Albinoidism (C565893)

       Child Nodes:



 Sister Nodes: 
..expandAlopecia (D000505) Child61
..expandBasaran Yilmaz syndrome (C537660)
..expandBazex-Dupre-Christol syndrome (C537663)
..expandBrachymetapody-Anodontia-Hypotrichosis-Albinoidism (C565893)
..expandEctodermal Dysplasia, Trichoodontoonychial Type (C565068)
..expandHypotrichosis 5 (C567554)
..expandHypotrichosis And Recurrent Skin Vesicles (C567751)
..expandHypotrichosis simplex (C537160) Child1
..expandHypotrichosis Simplex of Scalp (C564143)
..expandHypotrichosis, Localized, Autosomal Recessive 1 (C564312)
..expandHypotrichosis, Localized, Autosomal Recessive, 3 (C566950)
..expandHypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate (C563765)
..expandHypotrichosis-Lymphedema-Telangiectasia Syndrome (C564327)
..expandHypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome (C564357)
..expandIchthyosis with hypotrichosis, autosomal recessive (C536273) Child1
..expandIchthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis (C566554) Child1
..expandJuvenile macular degeneration and hypotrichosis (C537698)
..expandLeukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..expandMarie Unna congenital hypotrichosis (C535912)
..expandMarie Unna Hereditary Hypotrichosis 1 (C567718)
..expandNicolaides Baraitser syndrome (C536116)
..expandRombo syndrome (C535870)
..expandSchopf-Schulz-Passarge Syndrome (C565607)
..expandSpondyloepimetaphyseal dysplasia with hypotrichosis (C535783)
..expandStorm Syndrome (C566109)
..expandTrichoodontoonychial Dysplasia (C564760)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1432
Name:Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Definition:
Alternative IDs:
ParentIDs:MESH:D000417|MESH:D000848|MESH:D004392|MESH:D005124|MESH:D007039
TreeNumbers:C05.116.099.343/C565893 |C07.650.800.100/C565893 |C07.793.700.100/C565893 |C11.250/C565893 |C11.270.040/C565893 |C16.131.384/C565893 |C16.131.850.800.100/C565893 |C16.320.240/C565893 |C16.320.290.040/C565893 |C16.320.565.100.102/C565893 |C16.320.850.080/C565893 |C1
Synonyms:Anodontia-Hypotrichosis Syndrome |Oculoosteocutaneous Syndrome
Slim Mappings:Congenital abnormality|Endocrine system disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Mouth disease|Musculoskeletal disease|Skin disease
Reference: MedGen: C565893
MeSH: C565893
OMIM: 211370;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002221Absent axillary hair
3 HP:0002555Absent pubic hair
4 HP:0000674Anodontia
5 HP:0000518Cataract
6 HP:0009743Distichiasis
7 HP:0000494Downslanted palpebral fissures
8 HP:0002213Fine hair
9 HP:0000327Hypoplasia of the maxilla
10 HP:0002557Hypoplastic nipples
11 HP:0000066Labial hypoplasia
12 HP:0000369Low-set ears
13 HP:0000545Myopia
14 HP:0000639Nystagmus
15 HP:0001006obsolete Hypotrichosis
16 HP:0007759Opacification of the corneal stroma
17 HP:0010049Short metacarpal
18 HP:0010743Short metatarsal
19 HP:0009803Short phalanx of finger
20 HP:0004322Short stature
21 HP:0001831Short toe
22 HP:0000653Sparse eyelashes
23 HP:0008070Sparse hair
24 HP:0000486Strabismus
Disease Causing ClinVar Variants