Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly

Preferred Label : Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Urioste syndrome;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Hypoproteinemia; Hypocalcemia;

Prefixed ID : %235255;

Details

Origin ID

235255;

UMLS CUI

C1856159;

Automatic exact mappings (from CISMeF team)
- Urioste Martinez-Frias syndrome [MeSH concept]
Currated CISMeF NLP mapping
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome [ORDO Disease]
- urioste Martinez-Frias syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abdominal distention [HPO term]
- Alveolar ridge overgrowth [HPO term]
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cleft palate [HPO term]
- Cryptorchidism [HPO term]
- Death in infancy [HPO term]
- Downslanted palpebral fissures [HPO term]
- Flat occiput [HPO term]
- Generalized hypotonia [HPO term]
- Hepatic failure [HPO term]
- Hepatomegaly [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypertrichosis [HPO term]
- Hypocalcemia [HPO term]
- Hypoproteinemia [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Low-set ears [HPO term]
- Lymphedema [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Midface retrusion [HPO term]
- Narrow chest [HPO term]
- Pancreatic lymphangiectasis [HPO term]
- Polyhydramnios [HPO term]
- Postaxial hand polydactyly [HPO term]
- Prominent eyes [HPO term]
- Proptosis [HPO term]
- Protein-losing enteropathy [HPO term]
- Pulmonary lymphangiectasia [HPO term]
- Redundant neck skin [HPO term]
- Short neck [HPO term]
- Smooth philtrum [HPO term]
- Splenomegaly [HPO term]
- Thickened nuchal skin fold [HPO term]
- Thin upper lip vermilion [HPO term]
- Thyroid lymphangiectasia [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome [ORDO Disease]
- Urioste Martinez-Frias syndrome [MeSH concept]
- urioste Martinez-Frias syndrome [MeSH Supplementary Concept]

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