Coloboma-obesity-hypogenitalism-impaired intellectual development syndrome

Preferred Label : Coloboma-obesity-hypogenitalism-impaired intellectual development syndrome;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Coloboma-obesity-hypogenitalism-mental retardation syndrome;

Inheritance : Autosomal dominant form;

Prefixed ID : %601794;

Details

Origin ID

601794;

UMLS CUI

C1866256;

Automatic exact mappings (from CISMeF team)
- Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Coloboma-Obesity-Hypogenitalism-Mental retardation syndrome [MeSH concept]
- Coloboma-Obesity-Hypogenitalism-Mental retardation syndrome [MeSH Supplementary Concept]
HPO term(s)
- Arachnoid cyst [HPO term]
- Atypical retinitis pigmentosa [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Cryptorchidism [HPO term]
- Gynecomastia [HPO term]
- Hydrocephalus [HPO term]
- Hypogonadism [HPO term]
- Intellectual disability, borderline [HPO term]
- Microphthalmia [HPO term]
- Obesity [HPO term]
- Retinal coloboma [HPO term]
- Rod-cone dystrophy [HPO term]
ORDO concept(s)
- Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Coloboma-Obesity-Hypogenitalism-Mental retardation syndrome [MeSH Supplementary Concept]
- Coloboma-Obesity-Hypogenitalism-Mental retardation syndrome [MeSH concept]
- Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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