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Matches in Ubergraph for { <http://purl.obolibrary.org/obo/MONDO_0012759> ?p ?o ?g. }

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MONDO_0012759 IAO_0000115 "Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age." @default.
MONDO_0012759 IAO_0000233 "https://github.com/monarch-initiative/mondo/issues/5588" @default.
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MONDO_0012759 RO_0002162 CARO_0001010 @default.
MONDO_0012759 RO_0002162 CARO_0010004 @default.
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MONDO_0012759 RO_0002162 NCBITaxon_1 @default.
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MONDO_0012759 RO_0002162 NCBITaxon_9347 @default.
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MONDO_0012759 RO_0002162 NCBITaxon_9606 @default.
MONDO_0012759 RO_0002162 OBI_0100026 @default.
MONDO_0012759 RO_0002162 PCO_0000031 @default.
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MONDO_0012759 RO_0002320 OBI_0100026 @default.
MONDO_0012759 RO_0002320 PCO_0000031 @default.