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	F11	615081	#615081 SPERMATOGENIC FAILURE 11; SPGF11 Synonym: Spermatogenic failure 11, 615081; SPGF11	KLHL10	C3554453	1 0.00/0.00
1:2	F11	612416	#612416 FACTOR XI DEFICIENCY Synonym: Factor XI deficiency, autosomal dominant, 612416 Deficiencies, Factor XI\|Deficiency, Factor XI\|F11 DEFICIENCY\|Factor XI Deficiencies\|Hemophilia C\|Plasma Thromboplastin Antecedent Deficiency\|PTA DEFICIENCY\|Rosenthal's Syndrome\|Rosenthals Syndrome\|Rosenthal's Syndromes\|Rosenthal Syndrome\|Rosenthal Syndro	F11	MESH:D005173	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.