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:0008905	HP:0008905	Rhizomelia	0	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0008905	HP:0008905	Rhizomelia	0	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type	HP:0040281 - Very frequent	34
HP:0008905	HP:0008905	Rhizomelia	0	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3	.	117
HP:0008905	HP:0008905	Rhizomelia	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0008905	HP:0008905	Rhizomelia	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0008905	HP:0008905	Rhizomelia	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.	3
HP:0008905	HP:0008905	Rhizomelia	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0008905	HP:0008905	Rhizomelia	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional	5
HP:0008905	HP:0008905	Rhizomelia	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0008905	HP:0008905	Rhizomelia	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0008905	HP:0008905	Rhizomelia	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0008905	HP:0008905	Rhizomelia	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2		17
HP:0008905	HP:0008905	Rhizomelia	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	.
HP:0008905	HP:0008905	Rhizomelia	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040281 - Very frequent	165
HP:0008905	HP:0008905	Rhizomelia	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional	165
HP:0008905	HP:0008905	Rhizomelia	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0008905	HP:0008905	Rhizomelia	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0008905	HP:0008905	Rhizomelia	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent	52
HP:0008905	HP:0008905	Rhizomelia	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0008905	HP:0008905	Rhizomelia	0	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	HP:0040281 - Very frequent	215
HP:0008905	HP:0008905	Rhizomelia	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0008905	HP:0008905	Rhizomelia	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia		284
HP:0008905	HP:0008905	Rhizomelia	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type		284
HP:0008905	HP:0008905	Rhizomelia	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI	.	4
HP:0008905	HP:0008905	Rhizomelia	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0008905	HP:0008905	Rhizomelia	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0008905	HP:0008905	Rhizomelia	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0008905	HP:0008905	Rhizomelia	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0008905	HP:0008905	Rhizomelia	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0008905	HP:0008905	Rhizomelia	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0008905	HP:0008905	Rhizomelia	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0008905	HP:0008905	Rhizomelia	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040282 - Frequent	65
HP:0008905	HP:0008905	Rhizomelia	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0008905	HP:0008905	Rhizomelia	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0008905	HP:0008905	Rhizomelia	0	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia	HP:0040282 - Frequent	172
HP:0008905	HP:0008905	Rhizomelia	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0008905	HP:0008905	Rhizomelia	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0008905	HP:0008905	Rhizomelia	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040283 - Occasional	145
HP:0008905	HP:0008905	Rhizomelia	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.	145
HP:0008905	HP:0008905	Rhizomelia	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040282 - Frequent	233
HP:0008905	HP:0008905	Rhizomelia	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0008905	HP:0008905	Rhizomelia	0	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III	.	233
HP:0008905	HP:0008905	Rhizomelia	0	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia	HP:0040281 - Very frequent
HP:0008905	HP:0008905	Rhizomelia	0	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0008905	HP:0008905	Rhizomelia	0	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly		52
HP:0008905	HP:0008905	Rhizomelia	0	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2	.	58
HP:0008905	HP:0008905	Rhizomelia	0	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040281 - Very frequent	99
HP:0008905	HP:0008905	Rhizomelia	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0008905	HP:0008905	Rhizomelia	0	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type		3
HP:0008905	HP:0008905	Rhizomelia	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3
HP:0008905	HP:0008905	Rhizomelia	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0008905	HP:0008905	Rhizomelia	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.	2
HP:0008905	HP:0008905	Rhizomelia	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040281 - Very frequent	2
HP:0008905	HP:0008905	Rhizomelia	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0008905	HP:0008905	Rhizomelia	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	93
HP:0008905	HP:0008905	Rhizomelia	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0008905	HP:0008905	Rhizomelia	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	11
HP:0008905	HP:0008905	Rhizomelia	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	4
HP:0008905	HP:0008905	Rhizomelia	0	IFT80 CL E G H	57560	29262	OMIM:611263	Asphyxiating thoracic dystrophy 2	.	65
HP:0008905	HP:0008905	Rhizomelia	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.	18
HP:0008905	HP:0008905	Rhizomelia	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0008905	HP:0008905	Rhizomelia	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional	91
HP:0008905	HP:0008905	Rhizomelia	0	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2	.	5
HP:0008905	HP:0008905	Rhizomelia	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia	.	70
HP:0008905	HP:0008905	Rhizomelia	0	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia	HP:0040281 - Very frequent	70
HP:0008905	HP:0008905	Rhizomelia	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0008905	HP:0008905	Rhizomelia	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome	HP:0040283 - Occasional	5
HP:0008905	HP:0008905	Rhizomelia	0	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX	.	22
HP:0008905	HP:0008905	Rhizomelia	0	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.	52
HP:0008905	HP:0008905	Rhizomelia	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0008905	HP:0008905	Rhizomelia	0	MYSM1 CL E G H	114803	29401	OMIM:618116	Bone marrow failure syndrome 4	.
HP:0008905	HP:0008905	Rhizomelia	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0008905	HP:0008905	Rhizomelia	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.	11
HP:0008905	HP:0008905	Rhizomelia	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040281 - Very frequent	11
HP:0008905	HP:0008905	Rhizomelia	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.	72
HP:0008905	HP:0008905	Rhizomelia	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0008905	HP:0008905	Rhizomelia	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0008905	HP:0008905	Rhizomelia	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0008905	HP:0008905	Rhizomelia	0	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0008905	HP:0008905	Rhizomelia	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent	58
HP:0008905	HP:0008905	Rhizomelia	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia	.	37
HP:0008905	HP:0008905	Rhizomelia	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent	37
HP:0008905	HP:0008905	Rhizomelia	0	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia		66
HP:0008905	HP:0008905	Rhizomelia	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0008905	HP:0008905	Rhizomelia	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166
HP:0008905	HP:0008905	Rhizomelia	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0008905	HP:0008905	Rhizomelia	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0008905	HP:0008905	Rhizomelia	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040282 - Frequent
HP:0008905	HP:0008905	Rhizomelia	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	95
HP:0008905	HP:0008905	Rhizomelia	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.	95
HP:0008905	HP:0008905	Rhizomelia	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent	136
HP:0008905	HP:0008905	Rhizomelia	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0008905	HP:0008905	Rhizomelia	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0008905	HP:0005069	Rhizo-meso-acromelic limb shortening	1	CL E G H
HP:0008905	HP:0005026	Mesomelic/rhizomelic limb shortening	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0008905	HP:0004991	Rhizomelic arm shortening	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0008905	HP:0012106	Rhizomelic leg shortening	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0008905	HP:0004991	Rhizomelic arm shortening	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0008905	HP:0004991	Rhizomelic arm shortening	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0008905	HP:0004991	Rhizomelic arm shortening	1	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0008905	HP:0004991	Rhizomelic arm shortening	1	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type	HP:0040281 - Very frequent	3
HP:0008905	HP:0004991	Rhizomelic arm shortening	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0008905	HP:0012106	Rhizomelic leg shortening	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0008905	HP:0004991	Rhizomelic arm shortening	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:0008905	HP:0005026	Mesomelic/rhizomelic limb shortening	1	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia	HP:0040281 - Very frequent	66
HP:0008905	HP:0004991	Rhizomelic arm shortening	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166