WormMine: DiseaseOntology DOID:0111063 hyperphosphatemic familial tumoral calcinosis Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene.

1 Ontology

• Name: Disease Ontology

12 Parents

Identifier	Name	Description
DOID:4	disease	A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:0014667	disease of metabolism	A disease that involves errors in metabolic processes of building or degradation of molecules.
DOID:0060158	acquired metabolic disease	A disease of metabolism that has_material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption.
DOID:0050032	mineral metabolism disease	An acquired metabolic disease that is characterized by abnormal mineral metabolism.
DOID:0050177	monogenic disease	A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630	genetic disease	A disease that has_material_basis_in genetic variations in the human genome.
DOID:0050739	autosomal genetic disease	A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
DOID:0050737	autosomal recessive disease	An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
DOID:655	inherited metabolic disorder	A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
DOID:10575	calcium metabolism disease
DOID:182	calcinosis	A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue.
DOID:0111063	hyperphosphatemic familial tumoral calcinosis	A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene.

11 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:182	DOID:0111063
is_a	DOID:655	DOID:0111063
is_a	DOID:0050737	DOID:0111063
is_a	DOID:0050177	DOID:0111063
is_a	DOID:0050032	DOID:0111063
is_a	DOID:0060158	DOID:0111063
is_a	DOID:10575	DOID:0111063
is_a	DOID:0050739	DOID:0111063
is_a	DOID:0014667	DOID:0111063
is_a	DOID:4	DOID:0111063
is_a	DOID:630	DOID:0111063

14 Synonyms

• Name: familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
• Type: synonym

• Name: familial Teutschlaender disease
• Type: synonym

• Name: HFTC
• Type: synonym

• Name: hypercalcemic tumoral calcinosis
• Type: synonym

• Name: hyperostosis with hyperphosphatemia
• Type: synonym

• Name: hyperphosphatemia hyperostosis
• Type: synonym

• Name: hyperphosphatemia hyperostosis syndrome
• Type: synonym

• Name: hyperphosphatemia tumoral calcinosis
• Type: synonym

• Name: lipocalcinogranulomatosis
• Type: synonym

• Name: morbus Teutschlaender
• Type: synonym

• Name: PHPTC
• Type: synonym

• Name: primary hyperphosphatemic tumoral calcinosis
• Type: synonym

• Name: tumoral calcinosis with hyperphosphatemia
• Type: synonym

• Name: cortical hyperostosis with hyperphosphatemia
• Type: synonym