DOID:0111059
|
-
Bernard-Soulier syndrome type A2
-
Aliases:
|
|
|
Homo sapiens (human)
|
|
DOID:0111061
|
-
familial hypobetalipoproteinemia 2
-
Aliases:
-
FHBL2
-
combined familial hypolipidemia
|
|
|
Mus musculus (house mouse)
|
|
DOID:0111061
|
-
familial hypobetalipoproteinemia 2
-
Aliases:
-
FHBL2
-
combined familial hypolipidemia
|
|
|
Drosophila melanogaster (fruit fly)
|
|
DOID:0111061
|
-
familial hypobetalipoproteinemia 2
-
Aliases:
-
FHBL2
-
combined familial hypolipidemia
|
|
|
Rattus norvegicus (Norway rat)
|
|
DOID:0111061
|
-
familial hypobetalipoproteinemia 2
-
Aliases:
-
FHBL2
-
combined familial hypolipidemia
|
|
|
Homo sapiens (human)
|
|
DOID:0111062
|
-
familial hypobetalipoproteinemia 1
-
Aliases:
|
|
|
Mus musculus (house mouse)
|
|
DOID:0111062
|
-
familial hypobetalipoproteinemia 1
-
Aliases:
|
|
|
Homo sapiens (human)
|
|
DOID:0111062
|
-
familial hypobetalipoproteinemia 1
-
Aliases:
|
|
|
Rattus norvegicus (Norway rat)
|
|
DOID:0111063
|
-
hyperphosphatemic familial tumoral calcinosis
-
Aliases:
-
HFTC
-
HHS
-
PHPTC
-
cortical hyperostosis with hyperphosphatemia
-
familial Teutschlaender disease
-
familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
-
hypercalcemic tumoral calcinosis
-
hyperostosis with hyperphosphatemia
-
hyperphosphatemia hyperostosis
-
hyperphosphatemia hyperostosis syndrome
-
hyperphosphatemia tumoral calcinosis
-
lipocalcinogranulomatosis
-
morbus Teutschlaender
-
primary hyperphosphatemic tumoral calcinosis
-
tumoral calcinosis with hyperphosphatemia
|
|
|
Mus musculus (house mouse)
|
|
DOID:0111063
|
-
hyperphosphatemic familial tumoral calcinosis
-
Aliases:
-
HFTC
-
HHS
-
PHPTC
-
cortical hyperostosis with hyperphosphatemia
-
familial Teutschlaender disease
-
familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
-
hypercalcemic tumoral calcinosis
-
hyperostosis with hyperphosphatemia
-
hyperphosphatemia hyperostosis
-
hyperphosphatemia hyperostosis syndrome
-
hyperphosphatemia tumoral calcinosis
-
lipocalcinogranulomatosis
-
morbus Teutschlaender
-
primary hyperphosphatemic tumoral calcinosis
-
tumoral calcinosis with hyperphosphatemia
|
|
|
Rattus norvegicus (Norway rat)
|
|
DOID:0111063
|
-
hyperphosphatemic familial tumoral calcinosis
-
Aliases:
-
HFTC
-
HHS
-
PHPTC
-
cortical hyperostosis with hyperphosphatemia
-
familial Teutschlaender disease
-
familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
-
hypercalcemic tumoral calcinosis
-
hyperostosis with hyperphosphatemia
-
hyperphosphatemia hyperostosis
-
hyperphosphatemia hyperostosis syndrome
-
hyperphosphatemia tumoral calcinosis
-
lipocalcinogranulomatosis
-
morbus Teutschlaender
-
primary hyperphosphatemic tumoral calcinosis
-
tumoral calcinosis with hyperphosphatemia
|
|
|
Xenopus tropicalis (tropical clawed frog)
|
|
DOID:0111063
|
-
hyperphosphatemic familial tumoral calcinosis
-
Aliases:
-
HFTC
-
HHS
-
PHPTC
-
cortical hyperostosis with hyperphosphatemia
-
familial Teutschlaender disease
-
familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
-
hypercalcemic tumoral calcinosis
-
hyperostosis with hyperphosphatemia
-
hyperphosphatemia hyperostosis
-
hyperphosphatemia hyperostosis syndrome
-
hyperphosphatemia tumoral calcinosis
-
lipocalcinogranulomatosis
-
morbus Teutschlaender
-
primary hyperphosphatemic tumoral calcinosis
-
tumoral calcinosis with hyperphosphatemia
|
|
|
Drosophila melanogaster (fruit fly)
|
|
DOID:0111063
|
-
hyperphosphatemic familial tumoral calcinosis
-
Aliases:
-
HFTC
-
HHS
-
PHPTC
-
cortical hyperostosis with hyperphosphatemia
-
familial Teutschlaender disease
-
familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
-
hypercalcemic tumoral calcinosis
-
hyperostosis with hyperphosphatemia
-
hyperphosphatemia hyperostosis
-
hyperphosphatemia hyperostosis syndrome
-
hyperphosphatemia tumoral calcinosis
-
lipocalcinogranulomatosis
-
morbus Teutschlaender
-
primary hyperphosphatemic tumoral calcinosis
-
tumoral calcinosis with hyperphosphatemia
|
|
|
Caenorhabditis elegans
|
|
DOID:0111063
|
-
hyperphosphatemic familial tumoral calcinosis
-
Aliases:
-
HFTC
-
HHS
-
PHPTC
-
cortical hyperostosis with hyperphosphatemia
-
familial Teutschlaender disease
-
familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
-
hypercalcemic tumoral calcinosis
-
hyperostosis with hyperphosphatemia
-
hyperphosphatemia hyperostosis
-
hyperphosphatemia hyperostosis syndrome
-
hyperphosphatemia tumoral calcinosis
-
lipocalcinogranulomatosis
-
morbus Teutschlaender
-
primary hyperphosphatemic tumoral calcinosis
-
tumoral calcinosis with hyperphosphatemia
|
|
|
Danio rerio (zebrafish)
|
|
DOID:0111064
|
-
autosomal recessive distal hereditary motor neuronopathy 1
-
Aliases:
-
DSMA1
-
SIANRF
-
SMARD1
-
autosomal recessive distal spinal muscular atrophy 1
-
autosomal recessive spinal muscular atrophy with respiratory distress
-
dHMN6
-
diaphragmatic spinal muscular atrophy
-
distal hereditary motor neuropathy type 6
-
distal spinal muscular atrophy 1
-
distal-HMN type 6
-
severe infantile axonal neuropathy with respiratory failure type 1
-
spinal muscular atrophy with respiratory distress type 1
|
|
|
Homo sapiens (human)
|
|
DOID:0111066
|
-
congenital bile acid synthesis defect 5
-
Aliases:
|
|
|
Homo sapiens (human)
|
|
DOID:0111066
|
-
congenital bile acid synthesis defect 5
-
Aliases:
|
|
|
Saccharomyces cerevisiae S288C
|
|
DOID:0111066
|
-
congenital bile acid synthesis defect 5
-
Aliases:
|
|
|
Mus musculus (house mouse)
|
|
DOID:0111066
|
-
congenital bile acid synthesis defect 5
-
Aliases:
|
|
|
Rattus norvegicus (Norway rat)
|
|
DOID:0111067
|
-
congenital bile acid synthesis defect 6
-
Aliases:
|
|
|
Mus musculus (house mouse)
|
|
DOID:0111067
|
-
congenital bile acid synthesis defect 6
-
Aliases:
|
|
|
Saccharomyces cerevisiae S288C
|
|
DOID:0111067
|
-
congenital bile acid synthesis defect 6
-
Aliases:
|
|
|
Homo sapiens (human)
|
|
DOID:0111068
|
-
congenital bile acid synthesis defect 4
-
Aliases:
-
CBAS4
-
intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid
-
trihydroxycoprostanic acid in bile
|
|
|
Homo sapiens (human)
|
|
DOID:0111069
|
-
congenital bile acid synthesis defect 2
-
Aliases:
-
CBAS2
-
cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
|
|
|
Saccharomyces cerevisiae S288C
|
|
DOID:0111069
|
-
congenital bile acid synthesis defect 2
-
Aliases:
-
CBAS2
-
cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
|
|
|
Homo sapiens (human)
|
|