Diabetes mellitus, neonatal, with congenital hypothyroidism

Preferred Label : Diabetes mellitus, neonatal, with congenital hypothyroidism;

Symbol : NDH;

CISMeF acronym : NDH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ndh syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the GLIS family zinc finger protein-3 (GLIS3, 610192.0001);

Prefixed ID : #610199;

Details

Origin ID

610199;

UMLS CUI

C1857775;

Currated CISMeF NLP mapping
- NDH syndrome [Disease (Nov.)]
- Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome [ORDO Disease]
- diabetes mellitus, neonatal, with congenital hypothyroidism [MeSH concept]
- diabetes mellitus, neonatal, with congenital hypothyroidism [MeSH Supplementary Concept]
- neonatal diabetes mellitus with congenital hypothyroidism [DO Concept]
DO Cross reference
- neonatal diabetes mellitus with congenital hypothyroidism [DO Concept]
Genes related to phenotype
- Glis family zinc finger protein 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Buphthalmos [HPO term]
- Choanal atresia [HPO term]
- Cholestasis [HPO term]
- Congenital hypothyroidism [HPO term]
- Depressed nasal bridge [HPO term]
- Developmental glaucoma [HPO term]
- Diabetes mellitus [HPO term]
- Epicanthus [HPO term]
- Global developmental delay [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatitis [HPO term]
- Hepatomegaly [HPO term]
- Hiatus hernia [HPO term]
- Intrauterine growth retardation [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Osteopenia [HPO term]
- Pancreatic cysts [HPO term]
- Pancreatic hypoplasia [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Portal hypertension [HPO term]
- Recurrent infections [HPO term]
- Renal cyst [HPO term]
- Sagittal craniosynostosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Splenic cyst [HPO term]
- Splenomegaly [HPO term]
- Thin upper lip vermilion [HPO term]
- Thoracolumbar scoliosis [HPO term]
- Umbilical hernia [HPO term]
- Wide anterior fontanel [HPO term]
ORDO concept(s)
- Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome [ORDO Disease]
See also inter- (CISMeF)
- GLIS3 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- NDH syndrome [Disease (Nov.)]
- Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome [ORDO Disease]
- diabetes mellitus, neonatal, with congenital hypothyroidism [MeSH Supplementary Concept]
- diabetes mellitus, neonatal, with congenital hypothyroidism [MeSH concept]
- neonatal diabetes mellitus with congenital hypothyroidism [DO Concept]

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