Robinow syndrome, autosomal dominant 2

Preferred Label : Robinow syndrome, autosomal dominant 2;

Symbol : DRS2;

CISMeF acronym : DRS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the dishevelled segment polarity protein 1 gene (DVL1, 601365.0001);

Prefixed ID : #616331;

Détails

Origin ID

616331;

UMLS CUI

C4225363;

CISMeF manual mappings
- autosomal dominant Robinow syndrome 2 [DO Concept]
DO Cross reference
- autosomal dominant Robinow syndrome 2 [DO Concept]
Genes related to phenotype
- Dishevelled 1 [OMIM gene]
HPO term(s)
- Abnormality of the dentition [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Broad thumb [HPO term]
- Cleft soft palate [HPO term]
- Clinodactyly [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Dental crowding [HPO term]
- Dental malocclusion [HPO term]
- Depressed nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Gingival overgrowth [HPO term]
- Hearing impairment [HPO term]
- High forehead [HPO term]
- Hypertelorism [HPO term]
- Kyphoscoliosis [HPO term]
- Long philtrum [HPO term]
- Macrocephaly [HPO term]
- Mesomelia [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Midface retrusion [HPO term]
- Partial duplication of the phalanx of hand [HPO term]
- Proptosis [HPO term]
- Sacral dimple [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short distal phalanx of finger [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Thickened calvaria [HPO term]
- Thin upper lip vermilion [HPO term]
- Triangular mouth [HPO term]
- Umbilical hernia [HPO term]
- Upslanted palpebral fissure [HPO term]
ORDO concept(s)
- Autosomal dominant Robinow syndrome [ORDO Disease]
- Robinow syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant Robinow syndrome 2 [DO Concept]

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

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