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:0002663	HP:0002663	Delayed epiphyseal ossification	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2		284
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040281 - Very frequent	284
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy	.	137
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.	89
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040283 - Occasional	89
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia		89
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040282 - Frequent	89
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent	60
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040283 - Occasional
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040281 - Very frequent	13
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome		13
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2		14
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040282 - Frequent	14
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type	HP:0040281 - Very frequent	167
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5		32
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF		1
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome	.	58
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent	58
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis		59
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis		155
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis		92
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040281 - Very frequent	214
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0002663	HP:0002663	Delayed epiphyseal ossification	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0002663	HP:0003840	Delayed upper limb epiphyseal ossification	1	CL E G H
HP:0002663	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:0002663	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:0002663	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:0002663	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:0002663	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:0002663	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:0002663	HP:0006016	Delayed phalangeal epiphyseal ossification	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0002663	HP:0006016	Delayed phalangeal epiphyseal ossification	1	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14
HP:0002663	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:0002663	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:0002663	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:0002663	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:0002663	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:0002663	HP:0008828	Delayed proximal femoral epiphyseal ossification	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0002663	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:0002663	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:0002663	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:0002663	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:0002663	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
HP:0002663	HP:0003947	Delayed elbow epiphyseal ossification	2	CL E G H
HP:0002663	HP:0003894	Delayed humeral epiphyseal ossification	2	CL E G H