Osteopetrosis, autosomal recessive 2

Preferred Label : Osteopetrosis, autosomal recessive 2;

Symbol : OPTB2;

CISMeF acronym : OPTB2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osteopetrosis, osteoclast-poor; Osteopetrosis, mild autosomal recessive form;

Inheritance : Autosomal recessive; also a mild dominant form and a lethal recessive form;

Prefixed ID : #259710;

Details

Origin ID

259710;

UMLS CUI

C1850126;

Automatic exact mappings (from CISMeF team)
- Osteopetrosis, mild autosomal recessive form [MeSH concept]
- TNFSF11 wt Allele [NCIt concept]
- osteopetrosis, mild autosomal recessive form [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Autosomal recessive malignant osteopetrosis [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive osteopetrosis 2 [DO Concept]
DO Cross reference
- autosomal recessive osteopetrosis 2 [DO Concept]
Genes related to phenotype
- Tumor necrosis factor ligand superfamily, member 11 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Carious teeth [HPO term]
- Chronic rhinitis due to narrow nasal airway [HPO term]
- Cranial hyperostosis [HPO term]
- Cranial nerve compression [HPO term]
- Diaphyseal sclerosis [HPO term]
- Extramedullary hematopoiesis [HPO term]
- Facial paralysis [HPO term]
- Genu valgum [HPO term]
- Hepatosplenomegaly [HPO term]
- Mandibular osteomyelitis [HPO term]
- Mandibular prognathia [HPO term]
- Optic atrophy [HPO term]
- Osteomyelitis [HPO term]
- Osteopetrosis [HPO term]
- Pancytopenia [HPO term]
- Persistence of primary teeth [HPO term]
- Recurrent fractures [HPO term]
- Thrombocytopenia [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Autosomal recessive malignant osteopetrosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteopetrosis, mild autosomal recessive form [MeSH concept]
- autosomal recessive osteopetrosis 2 [DO Concept]
- osteopetrosis, mild autosomal recessive form [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Autosomal recessive malignant osteopetrosis [ORDO Disease]

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