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:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3		117
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked		58
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III		233
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type		52
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2		58
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia		99
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities		3
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	LMBR1 CL E G H	64327	13243	ORPHA:931	Acheiropodia		106
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome		8
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040282 - Frequent	10
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome		445
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome		86
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome		6
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome		100
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0006507	HP:0006507	Aplasia/hypoplasia of the humerus	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked		39
HP:0006507	HP:0005792	Short humerus	1	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3	.	117
HP:0006507	HP:0005792	Short humerus	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0006507	HP:0005792	Short humerus	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0006507	HP:0005792	Short humerus	1	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked	.	58
HP:0006507	HP:0005792	Short humerus	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0006507	HP:0003862	Absent humerus	1	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional	233
HP:0006507	HP:0005792	Short humerus	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0006507	HP:0005792	Short humerus	1	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia	HP:0040281 - Very frequent
HP:0006507	HP:0005792	Short humerus	1	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0006507	HP:0005025	Hypoplastic distal humeri	1	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0006507	HP:0005792	Short humerus	1	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.	52
HP:0006507	HP:0005792	Short humerus	1	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2	.	58
HP:0006507	HP:0005025	Hypoplastic distal humeri	1	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040281 - Very frequent	99
HP:0006507	HP:0005792	Short humerus	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0006507	HP:0005025	Hypoplastic distal humeri	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0006507	HP:0005792	Short humerus	1	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0006507	HP:0005792	Short humerus	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0006507	HP:0005792	Short humerus	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0006507	HP:0005792	Short humerus	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0006507	HP:0005792	Short humerus	1	LMBR1 CL E G H	64327	13243	ORPHA:931	Acheiropodia	HP:0040281 - Very frequent	106
HP:0006507	HP:0005792	Short humerus	1	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0006507	HP:0005792	Short humerus	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.	8
HP:0006507	HP:0005792	Short humerus	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040283 - Occasional
HP:0006507	HP:0005792	Short humerus	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0006507	HP:0005792	Short humerus	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0006507	HP:0005792	Short humerus	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0006507	HP:0005792	Short humerus	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0006507	HP:0005792	Short humerus	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.	445
HP:0006507	HP:0005792	Short humerus	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0006507	HP:0005792	Short humerus	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040283 - Occasional	86
HP:0006507	HP:0005792	Short humerus	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0006507	HP:0005792	Short humerus	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.	6
HP:0006507	HP:0005792	Short humerus	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040284 - Very rare	60
HP:0006507	HP:0005792	Short humerus	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0006507	HP:0005792	Short humerus	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0006507	HP:0005792	Short humerus	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0006507	HP:0005792	Short humerus	1	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked	.	39