Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2		284
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional	89
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1		65
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040282 - Frequent	233
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5		32
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4		166
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis		59
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis		155
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis		92
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0009107	HP:0009107	Abnormal ossification involving the femoral head and neck	0	UFSP2 CL E G H	55325	25640	ORPHA:2114	Hip dysplasia, Beukes type	HP:0040281 - Very frequent	2
HP:0009107	HP:0008820	Absent ossification of capital femoral epiphysis	1	CL E G H
HP:0009107	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0009107	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent	284
HP:0009107	HP:0008797	Early ossification of capital femoral epiphyses	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0009107	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	121
HP:0009107	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	11
HP:0009107	HP:0006450	Multicentric ossification of proximal femoral epiphyses	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0009107	HP:0008835	Multicentric femoral head ossification	1	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.	65
HP:0009107	HP:0008829	Delayed femoral head ossification	1	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.	65
HP:0009107	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	21
HP:0009107	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	130
HP:0009107	HP:0008797	Early ossification of capital femoral epiphyses	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0009107	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	51
HP:0009107	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	43
HP:0009107	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040281 - Very frequent	32
HP:0009107	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	36
HP:0009107	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	54
HP:0009107	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0009107	HP:0008829	Delayed femoral head ossification	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0009107	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	59
HP:0009107	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	155
HP:0009107	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	92
HP:0009107	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9
HP:0009107	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional	97