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:0100671	HP:0100671	Abnormal trabecular bone morphology	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome		34
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional	2
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1		112
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive		112
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		41
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A		41
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		5
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B		5
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent	58
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional	445
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis		68
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary		52
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis		82
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis		72
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease		72
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease		44
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia		214
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets		104
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:0100671	HP:0100671	Abnormal trabecular bone morphology	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040281 - Very frequent	34
HP:0100671	HP:0002752	Sparse bone trabeculae	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0100671	HP:0002752	Sparse bone trabeculae	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0100671	HP:0002752	Sparse bone trabeculae	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0100671	HP:0002752	Sparse bone trabeculae	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0100671	HP:0002752	Sparse bone trabeculae	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0100671	HP:0002752	Sparse bone trabeculae	1	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent	20
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	68
HP:0100671	HP:0002752	Sparse bone trabeculae	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	82
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	72
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent	72
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent	44
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040281 - Very frequent	214
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040281 - Very frequent	104
HP:0100671	HP:0002752	Sparse bone trabeculae	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0100671	HP:0100670	Coarse metaphyseal trabecularization	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40