Human Phenotype Search HPO OMIM

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Human Disease and Phenotype Search Batch Search:
1	Input Term	OMIM ID	OMIM Disorder	Gene	MESH	Top Match
1:1	GDH	212840	#212840 GORDON HOLMES SYNDROME; GDHS Synonym: Cerebellar ataxia and hypogonadotropic hypogonadism, 212840; GDHS Gordon Holmes Syndrome\|LHRH Deficiency and Ataxia\|Luteinizing Hormone-Releasing Hormone, Deficiency of, with Ataxia	RNF216	MESH:C565870	1 0.00/0.00
1:2	GDH	605850	#605850 DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD Synonym: Dimethylglycine dehydrogenase deficiency, 605850; DMGDHD DMGDHD\|DMGDH Deficiency	DMGDH	MESH:C565278	1 0.00/0.00
1:3	GDH	601815	#601815 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD Synonym: Phosphoglycerate dehydrogenase deficiency, 601815; PHGDHD PHGDH Deficiency	PHGDH	MESH:C566618	1 0.00/0.00
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.