Thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness

Preferred Label : Thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 274205;

Details

Origin ID

274205;

UMLS CUI

C1848816;

Automatic exact mappings (from CISMeF team)
- thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness [MeSH concept]
- thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Upper limb defect with eye and ear abnormalities syndrome (disorder) [SNOMED CT concept]
- Upper limb defect-eye and ear abnormalities syndrome [ORDO Disease]
HPO term(s)
- Abnormal antihelix morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Chorioretinal coloboma [HPO term]
- Cryptorchidism [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Short thumb [HPO term]
ORDO concept(s)
- Upper limb defect-eye and ear abnormalities syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Upper limb defect-eye and ear abnormalities syndrome [ORDO Disease]
- thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness [MeSH Supplementary Concept]
- thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness [MeSH concept]

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