Rajab interstitial lung disease with brain calcifications 2

Preferred Label : Rajab interstitial lung disease with brain calcifications 2;

Symbol : RILDBC2;

CISMeF acronym : RILDBC2;

Type : Phenotype, molecular basis known;

Prefixed ID : #619013;

Details

Origin ID

619013;

UMLS CUI

C5436603;

Genes related to phenotype
- Phenylalanine-trna synthetase, alpha subunit [OMIM gene]
HPO term(s)
- Abnormal pulmonary interstitial morphology [HPO term]
- Arachnodactyly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cough [HPO term]
- Decreased muscle mass [HPO term]
- Deeply set eye [HPO term]
- Elevated hepatic transaminase [HPO term]
- Elfin facies [HPO term]
- Exercise intolerance [HPO term]
- Feeding difficulties in infancy [HPO term]
- Fetal onset [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatic steatosis [HPO term]
- Hepatosplenomegaly [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypoalbuminemia [HPO term]
- Hypopituitarism [HPO term]
- Hypothyroidism [HPO term]
- Joint hypermobility [HPO term]
- Microcephaly [HPO term]
- Microcytic anemia [HPO term]
- Oligohydramnios [HPO term]
- Periventricular cysts [HPO term]
- Restrictive ventilatory defect [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Brain calcification, Rajab type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Brain calcification, Rajab type [ORDO Disease]

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