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Mondo Disease Ontology
MONDO
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Label
Id
Description
primary hypergonadotropic hypogonadism-partial alopecia syndrome
MONDO_0009420
syndromic X-linked intellectual disability Shrimpton type
MONDO_0010409
X-linked erythropoietic protoporphyria
MONDO_0010420
erythropoietic protoporphyria
MONDO_0001676
Alzheimer disease 16
MONDO_0010422
Bruton-type agammaglobulinemia
MONDO_0010421
surfactant metabolism dysfunction, pulmonary, 4
MONDO_0010424
hypospadias 2, X-linked
MONDO_0010423
retinal ciliopathy due to mutation in Usher gene
MONDO_0022404
retinal ciliopathy due to mutation in nephronophthisis gene
MONDO_0022405
obsolete aksu von stockhausen syndrome
MONDO_0022406
retinal ciliopathy due to mutation in Bardet-Biedl gene
MONDO_0022407
obsolete albinism immunodeficiency
MONDO_0022412
autosomal recessive congenital ichthyosis 2
MONDO_0009439
self-healing collodion baby
MONDO_0017267
Albright-like syndrome
MONDO_0022413
polyostotic fibrous dysplasia
MONDO_0008274
hypouricemia, hypercalcinuria, and decreased bone density
MONDO_0009438
allain-babin-demarquez syndrome
MONDO_0022414
myopathy, reducing body, X-linked, childhood-onset
MONDO_0010415