Robinow syndrome, autosomal recessive 1

Preferred Label : Robinow syndrome, autosomal recessive 1;

Symbol : RRS1;

CISMeF acronym : RRS; RRS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Costovertebral segmentation defect with mesomelia; Covesdem syndrome;

Included titles and symbols : Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals; Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the receptor tyrosine kinase-like orphan receptor 2 gene (ROR2, 602337.0004);

Prefixed ID : #268310;

Details

Origin ID

268310;

UMLS CUI

C5399974;

Automatic exact mappings (from CISMeF team)
- Normal Sinus Rhythm [NCIt concept]
- Total Respiratory System Resistance [NCIt concept]
- Zaidi Recurrence Risk Score [NCIt concept]
- ribosome biogenesis regulator 1 homolog [HGNC gene]
Broader ORDO disease(s)
- Robinow syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal recessive Robinow syndrome [ICD-11 More detail]
- Autosomal recessive Robinow syndrome [ORDO Disease]
- Robinow syndrome, autosomal recessive [MeSH concept]
- autosomal recessive Robinow syndrome [DO Concept]
- robinow syndrome, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive Robinow syndrome [DO Concept]
Genes related to phenotype
- Receptor tyrosine kinase-like orphan receptor 2 [OMIM gene]
HPO term(s)
- Absent uvula [HPO term]
- Anteverted nares [HPO term]
- Aplasia/Hypoplasia involving the metacarpal bones [HPO term]
- Autosomal recessive 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 cranial suture closure [HPO term]
- Delayed eruption of permanent teeth [HPO term]
- Delayed skeletal maturation [HPO term]
- Dental crowding [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Duplication of the distal phalanx of hand [HPO term]
- Flat face [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Gingival overgrowth [HPO term]
- Global developmental delay [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic labia majora [HPO term]
- Hypoplastic sacrum [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]
- Missing ribs [HPO term]
- Nail dysplasia [HPO term]
- Nevus flammeus [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]
- Rib fusion [HPO term]
- Right ventricular outlet tract obstruction [HPO term]
- Scoliosis [HPO term]
- Short digit [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]
- Thoracic hemivertebrae [HPO term]
- Thoracolumbar scoliosis [HPO term]
- Triangular mouth [HPO term]
- Umbilical hernia [HPO term]
- Vertebral fusion [HPO term]
- Wide anterior fontanel [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Autosomal recessive Robinow syndrome [ORDO Disease]
- Robinow syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive Robinow syndrome [ORDO Disease]
- Robinow syndrome, autosomal recessive [MeSH concept]
- autosomal recessive Robinow syndrome [DO Concept]
- robinow syndrome, autosomal recessive [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Robinow syndrome [ORDO Disease]

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