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autosomal dominant non-syndromic intellectual disability 39
|
14678 |
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autosomal dominant non-syndromic intellectual disability caused by mutation in MYT1L
|
14678 |
|
|
male infertility, nonsyndromic, autosomal recessive
|
C567832 |
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patella, chondromalacia of
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D046789 |
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spastic ataxia of charlevoix-saguenay
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C536787 |
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adult fibrosarcoma of childhood
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http://purl.obolibrary.org/obo/MONDO_0002678 |
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congenital disorder of glycosylation, type io
|
C567857 |
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hemorrhagic disease of newborn
|
6784 |
|
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inborn error of pyruvate metabolic process
|
16789 |
|
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eccrine hidrocystoma of skin
|
6787 |
|
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fibular agenesis-hypoplasia, oligodactylous clubfeet, and anonychia-nail hypoplasia syndrome
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C567819 |
|
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Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related
|
9678 |
|
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Walker-Warburg syndrome or muscle-eye-brain disease, Fktn-Related
|
http://purl.obolibrary.org/obo/MONDO_0009678 |
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congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal-spinal abnormalities
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C567863 |
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anterior knee pain syndrome
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D046788 |
|