Ohdo syndrome - CISMeF

Preferred Label : Ohdo syndrome;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth; Ohdo blepharophimosis syndrome;

Inheritance : Autosomal dominant;

Laboratory abnormalities : Proteinuria;

Prefixed ID : %249620;

Détails

Origin ID

249620;

UMLS CUI

C0796094;

Automatic exact mappings (from CISMeF team)
- Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Blepharophimosis syndrome Ohdo type [MeSH concept]
- Blepharophimosis-intellectual disability syndrome, Ohdo type [ORDO Disease]
- Madokoro Ohdo Sonoda syndrome [MeSH concept]
- Ohdo syndrome [DO Concept]
- blepharophimosis syndrome ohdo type [MeSH Supplementary Concept]
- madokoro ohdo sonoda syndrome [MeSH Supplementary Concept]
DO Cross reference
- Ohdo syndrome [DO Concept]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cryptorchidism [HPO term]
- Deafness [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flattened nasal bridge [HPO term]
- Generalized hypotonia [HPO term]
- Hearing impairment [HPO term]
- Hypoplasia of teeth [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Joint laxity [HPO term]
- Long philtrum [HPO term]
- Long, flat philtrum [HPO term]
- Micrognathia [HPO term]
- Microtia [HPO term]
- Narrow mouth [HPO term]
- Poorly formed pinnae [HPO term]
- Proteinuria [HPO term]
- Ptosis [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Short, upturned nose [HPO term]
- Small scrotum [HPO term]
- Smooth philtrum [HPO term]
- Sparse and thin eyebrow [HPO term]
- Stenosis of the external auditory canal [HPO term]
- Thin vermilion border [HPO term]
- Wide nasal bridge [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Blepharophimosis-intellectual disability syndrome, Ohdo type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Blepharophimosis syndrome Ohdo type [MeSH concept]
- Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) [SNOMED CT concept]
- Ohdo syndrome [DO Concept]
- blepharophimosis syndrome ohdo type [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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