Robinow syndrome, autosomal dominant 1

Preferred Label : Robinow syndrome, autosomal dominant 1;

Symbol : DRS1;

CISMeF acronym : DRS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Acral dysostosis with facial and genital abnormalities; Fetal face syndrome; Robinow dwarfism;

Description : Robinow syndrome is a genetically heterogeneous disorder characterized by mesomelic limb shortening associated with facial and genital abnormalities (Robinow et al., 1969). Both autosomal dominant and autosomal recessive (268310) forms have been described; the recessive form is caused by mutations in the ROR2 gene (602337).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the wingless-type MMTV integration site family, member 5A gene (WNT5A, 164975.0001);

Prefixed ID : #180700;

Détails

Origin ID

180700;

UMLS CUI

C4551475;

Automatic exact mappings (from CISMeF team)
- DEAD-box helicase 27 [HGNC gene]
- Decision Regret Scale [NCIt concept]
- Delayed Release Dosage Form [NCIt concept]
- Disability Rating Scale Clinical Classification [NCIt concept]
- ECI2 wt Allele [NCIt concept]
- Enoyl-CoA Delta Isomerase 2, Mitochondrial [NCIt concept]
- Physician [NCIt concept]
- digital radiography [Radlex concept]
- enoyl-CoA delta isomerase 2 [HGNC gene]
Broader ORDO disease(s)
- Robinow syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal dominant Robinow syndrome [ICD-11 More detail]
- Autosomal dominant Robinow syndrome [ORDO Disease]
- Robinow Syndrome [NCIt concept]
- Robinow Syndrome [MeSH concept]
- Robinow syndrome [ORDO Disease]
- Robinow syndrome [DO Concept]
- Robinow syndrome [PASCAL descriptor]
- Robinow syndrome [Disease (Nov.)]
- Robinow syndrome (disorder) [SNOMED CT concept]
- robinow syndrome [SNOMED Notion]
DO Cross reference
- autosomal dominant Robinow syndrome 1 [DO Concept]
False automatic mappings
- Doctor [NCIt concept]
- Retinopathy due to diabetes mellitus (disorder) [SNOMED CT concept]
Genes related to phenotype
- Wingless-type mmtv integration site family, member 5a [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid distal phalanx of toe [HPO term]
- Bifid tongue [HPO term]
- Brachydactyly [HPO term]
- Broad phalanges of the thumb [HPO term]
- Broad thumb [HPO term]
- Broad toe [HPO term]
- Clinodactyly [HPO term]
- Clitoral hypoplasia [HPO term]
- Cryptorchidism [HPO term]
- Delayed eruption of teeth [HPO term]
- Delayed skeletal maturation [HPO term]
- Dental crowding [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Duplication of the distal phalanx of hand [HPO term]
- Epicanthus [HPO term]
- Flat face [HPO term]
- Frontal bossing [HPO term]
- Gingival overgrowth [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic labia majora [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Long eyelashes [HPO term]
- Long palpebral fissure [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Macroglossia [HPO term]
- Malar flattening [HPO term]
- Mesomelia [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Midface retrusion [HPO term]
- Nail dysplasia [HPO term]
- Narrow palate [HPO term]
- Nevus flammeus [HPO term]
- Oral cleft [HPO term]
- Pectus excavatum [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent eyes [HPO term]
- Proptosis [HPO term]
- Radial deviation of finger [HPO term]
- Renal duplication [HPO term]
- Retrognathia [HPO term]
- Rhizomelia [HPO term]
- Right ventricular outlet tract obstruction [HPO term]
- Short hard palate [HPO term]
- Short middle phalanx of the 5th finger [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short palm [HPO term]
- Short stature [HPO term]
- Short, upturned nose [HPO term]
- Small hand [HPO term]
- Thin upper lip vermilion [HPO term]
- Triangular mouth [HPO term]
- Umbilical hernia [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide anterior fontanel [HPO term]
- Wide nasal bridge [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 [ORDO Disease]
- Robinow Syndrome [NCIt concept]
- Robinow Syndrome [MeSH concept]
- Robinow syndrome [ORDO Disease]
- Robinow syndrome [DO Concept]
- Robinow syndrome [PASCAL descriptor]
- Robinow syndrome [Disease (Nov.)]
- Robinow syndrome (disorder) [SNOMED CT concept]
- robinow syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- autosomal dominant Robinow syndrome 1 [DO Concept]
Validated automatic mappings to NTBT
- Robinow Syndrome [NCIt concept]
- Robinow Syndrome [MeSH Supplementary Concept]
- Robinow syndrome [ICD-11 More detail]

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