Osteopetrosis with renal tubular acidosis
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Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.
Synonyms: Mixed renal tubular acidosis Guibaud-Vainsel syndrome Renal tubular acidosis type 3 Carbonic anhydrase 2 deficiency Marble brain disease Mixed RTA
This is just here as a test because I lose it
Term information
database cross reference
- OMIM:259730 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:Q78.2 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
- OMIM:267200 (BTNT (ORPHA code's Broader Term maps to a Narrower Term))
- UMLS:C1849435 (E (Exact mapping: the two concepts are equivalent))
- MeSH:C536058 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:Q78.2 (Attributed (The ICD10 code is attributed by Orphanet))
Term relations
Subclass of:
- disease
- part_of some Osteopetrosis and related disorders
- present_in some Worldwide and has_point_prevalence_range some <1 / 1 000 000
- part_of some Primary renal tubular acidosis
- has_inheritance some autosomal recessive
- has_age_of_onset some infancy
- present_in some Worldwide and has_cases/families_value value 100.0
- has_age_of_onset some neonatal
Related from: