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:0000887	HP:0000887	Cupped ribs	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0000887	HP:0000887	Cupped ribs	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0000887	HP:0000887	Cupped ribs	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0000887	HP:0000887	Cupped ribs	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked		7
HP:0000887	HP:0000887	Cupped ribs	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0000887	HP:0000887	Cupped ribs	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type		79
HP:0000887	HP:0000887	Cupped ribs	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0000887	HP:0000887	Cupped ribs	0	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2		222
HP:0000887	HP:0000887	Cupped ribs	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type		284
HP:0000887	HP:0000887	Cupped ribs	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type		45
HP:0000887	HP:0000887	Cupped ribs	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0000887	HP:0000887	Cupped ribs	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0000887	HP:0000887	Cupped ribs	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0000887	HP:0000887	Cupped ribs	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3
HP:0000887	HP:0000887	Cupped ribs	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0000887	HP:0000887	Cupped ribs	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0000887	HP:0000887	Cupped ribs	0	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related		32
HP:0000887	HP:0000887	Cupped ribs	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0000887	HP:0000887	Cupped ribs	0	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type		52
HP:0000887	HP:0000887	Cupped ribs	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.	11
HP:0000887	HP:0000887	Cupped ribs	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040282 - Frequent	11
HP:0000887	HP:0000887	Cupped ribs	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000887	HP:0000887	Cupped ribs	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0000887	HP:0000887	Cupped ribs	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0000887	HP:0000887	Cupped ribs	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0000887	HP:0000887	Cupped ribs	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia		214
HP:0000887	HP:0000887	Cupped ribs	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent	35
HP:0000887	HP:0000907	Anterior rib cupping	1	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0000887	HP:0000907	Anterior rib cupping	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0000887	HP:0000922	Posterior rib cupping	1	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0000887	HP:0000907	Anterior rib cupping	1	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	.
HP:0000887	HP:0000907	Anterior rib cupping	1	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040282 - Frequent	79
HP:0000887	HP:0000922	Posterior rib cupping	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0000887	HP:0000907	Anterior rib cupping	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0000887	HP:0000907	Anterior rib cupping	1	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.	284
HP:0000887	HP:0000922	Posterior rib cupping	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0000887	HP:0000907	Anterior rib cupping	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0000887	HP:0000907	Anterior rib cupping	1	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:0000887	HP:0000907	Anterior rib cupping	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1		5
HP:0000887	HP:0000907	Anterior rib cupping	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0000887	HP:0000922	Posterior rib cupping	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.	18
HP:0000887	HP:0000907	Anterior rib cupping	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.	18
HP:0000887	HP:0000922	Posterior rib cupping	1	MATN3 CL E G H	4148	6909	OMIM:608728	Spondyloepimetaphyseal dysplasia, matrilin-3 related	.	32
HP:0000887	HP:0000907	Anterior rib cupping	1	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:0000887	HP:0006603	Flared, irregular rib ends	1	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.	52
HP:0000887	HP:0000907	Anterior rib cupping	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000887	HP:0000907	Anterior rib cupping	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1		26
HP:0000887	HP:0000907	Anterior rib cupping	1	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia	.	9
HP:0000887	HP:0000907	Anterior rib cupping	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1