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:0000919	HP:0000919	Abnormality of the costochondral junction	0	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood		126
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile		126
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		41
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A		41
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		5
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B		5
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type		45
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I		145
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II		145
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia		217
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria		47
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria		52
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary		52
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0000919	HP:0000919	Abnormality of the costochondral junction	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:0000919	HP:0006623	Costochondral joint sclerosis	1	CL E G H
HP:0000919	HP:0006607	Precocious costochondral ossification	1	CL E G H
HP:0000919	HP:0006606	Irregular chondrocostal junctions	1	CL E G H
HP:0000919	HP:0006649	Costochondral pain	1	CL E G H
HP:0000919	HP:0000897	Rachitic rosary	1	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood	.	126
HP:0000919	HP:0000897	Rachitic rosary	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0000919	HP:0000897	Rachitic rosary	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0000919	HP:0000897	Rachitic rosary	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0000919	HP:0000920	Enlargement of the costochondral junction	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0000919	HP:0000920	Enlargement of the costochondral junction	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0000919	HP:0000893	Bulging of the costochondral junction	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0000919	HP:0000897	Rachitic rosary	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0000919	HP:0000920	Enlargement of the costochondral junction	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0000919	HP:0000893	Bulging of the costochondral junction	1	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0000919	HP:0000920	Enlargement of the costochondral junction	1	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0000919	HP:0006600	Progressive calcification of costochondral cartilage	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0000919	HP:0000920	Enlargement of the costochondral junction	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0000919	HP:0000920	Enlargement of the costochondral junction	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0000919	HP:0000910	Wide-cupped costochondral junctions	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.	145
HP:0000919	HP:0000910	Wide-cupped costochondral junctions	1	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.	145
HP:0000919	HP:0000920	Enlargement of the costochondral junction	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0000919	HP:0000920	Enlargement of the costochondral junction	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040283 - Occasional	217
HP:0000919	HP:0000897	Rachitic rosary	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent	217
HP:0000919	HP:0000920	Enlargement of the costochondral junction	1	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0000919	HP:0000920	Enlargement of the costochondral junction	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0000919	HP:0000897	Rachitic rosary	1	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040283 - Occasional	47
HP:0000919	HP:0000897	Rachitic rosary	1	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040283 - Occasional	52
HP:0000919	HP:0000893	Bulging of the costochondral junction	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0000919	HP:0000920	Enlargement of the costochondral junction	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0000919	HP:0000920	Enlargement of the costochondral junction	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0000919	HP:0000893	Bulging of the costochondral junction	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104