Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal rib morphology (HP:0000772)

Grandparent Node:
Aplasia/Hypoplasia involving bones of the thorax (HP:0006711)

Parent Node:
Aplasia/Hypoplasia of the ribs (HP:0006712)

..Starting node
..Short ribs (HP:0000773)

Term ID:

773

Name:

Short ribs

Synonym:

Hypoplastic ribs; Rib hypoplasia; Short ribs

Definition:

Reduced rib length.

Comments:

Reference:

HP:0000773

Genes and Diseases:

Child Nodes:

........

Hypoplasia of first ribs (HP:0006657)

........

Twelfth rib hypoplasia (HP:0006668)

Sister Nodes:

Missing ribs (HP:0000921)

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:0000773	HP:0000773	Short ribs	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0000773	HP:0000773	Short ribs	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0000773	HP:0000773	Short ribs	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0000773	HP:0000773	Short ribs	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0000773	HP:0000773	Short ribs	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040281 - Very frequent	215
HP:0000773	HP:0000773	Short ribs	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0000773	HP:0000773	Short ribs	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040281 - Very frequent	222
HP:0000773	HP:0000773	Short ribs	0	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2	.	222
HP:0000773	HP:0000773	Short ribs	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent	284
HP:0000773	HP:0000773	Short ribs	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.	284
HP:0000773	HP:0000773	Short ribs	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type	.	284
HP:0000773	HP:0000773	Short ribs	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0000773	HP:0000773	Short ribs	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0000773	HP:0000773	Short ribs	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0000773	HP:0000773	Short ribs	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0000773	HP:0000773	Short ribs	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:0000773	HP:0000773	Short ribs	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	.	304
HP:0000773	HP:0000773	Short ribs	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent	304
HP:0000773	HP:0000773	Short ribs	0	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI	.
HP:0000773	HP:0000773	Short ribs	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent
HP:0000773	HP:0000773	Short ribs	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent
HP:0000773	HP:0000773	Short ribs	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.	7
HP:0000773	HP:0000773	Short ribs	0	DYNLT2B CL E G H	255758	28482	OMIM:617405	Short-Rib thoracic dysplasia 17 with or without polydactyly
HP:0000773	HP:0000773	Short ribs	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0000773	HP:0000773	Short ribs	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0000773	HP:0000773	Short ribs	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0000773	HP:0000773	Short ribs	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0000773	HP:0000773	Short ribs	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.	145
HP:0000773	HP:0000773	Short ribs	0	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.	145
HP:0000773	HP:0000773	Short ribs	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	111
HP:0000773	HP:0000773	Short ribs	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0000773	HP:0000773	Short ribs	0	GNPTAB CL E G H	79158	29670	OMIM:252600	Mucolipidosis III alpha/beta	.	240
HP:0000773	HP:0000773	Short ribs	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000773	HP:0000773	Short ribs	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000773	HP:0000773	Short ribs	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3
HP:0000773	HP:0000773	Short ribs	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional	345
HP:0000773	HP:0000773	Short ribs	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0000773	HP:0000773	Short ribs	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	HP:0040283 - Occasional	148
HP:0000773	HP:0000773	Short ribs	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	.	48
HP:0000773	HP:0000773	Short ribs	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0000773	HP:0000773	Short ribs	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent	65
HP:0000773	HP:0000773	Short ribs	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0000773	HP:0000773	Short ribs	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0000773	HP:0000773	Short ribs	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	18
HP:0000773	HP:0000773	Short ribs	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly	.
HP:0000773	HP:0000773	Short ribs	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0000773	HP:0000773	Short ribs	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.	24
HP:0000773	HP:0000773	Short ribs	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0000773	HP:0000773	Short ribs	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0000773	HP:0000773	Short ribs	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome		165
HP:0000773	HP:0000773	Short ribs	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:0000773	HP:0000773	Short ribs	0	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies	.
HP:0000773	HP:0000773	Short ribs	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.	101
HP:0000773	HP:0000773	Short ribs	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.	10
HP:0000773	HP:0000773	Short ribs	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects		34
HP:0000773	HP:0000773	Short ribs	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0000773	HP:0000773	Short ribs	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0000773	HP:0000773	Short ribs	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0000773	HP:0000773	Short ribs	0	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0000773	HP:0000773	Short ribs	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000773	HP:0000773	Short ribs	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent	20
HP:0000773	HP:0000773	Short ribs	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.	665
HP:0000773	HP:0000773	Short ribs	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.	40
HP:0000773	HP:0000773	Short ribs	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent	58
HP:0000773	HP:0000773	Short ribs	0	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.	58
HP:0000773	HP:0000773	Short ribs	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	58
HP:0000773	HP:0000773	Short ribs	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:0000773	HP:0000773	Short ribs	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0000773	HP:0000773	Short ribs	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000773	HP:0000773	Short ribs	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0000773	HP:0000773	Short ribs	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0000773	HP:0000773	Short ribs	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.	166
HP:0000773	HP:0000773	Short ribs	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166
HP:0000773	HP:0000773	Short ribs	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia	.	9
HP:0000773	HP:0000773	Short ribs	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	9
HP:0000773	HP:0000773	Short ribs	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.	22
HP:0000773	HP:0000773	Short ribs	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.	124
HP:0000773	HP:0000773	Short ribs	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0000773	HP:0000773	Short ribs	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133
HP:0000773	HP:0000773	Short ribs	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	.	214
HP:0000773	HP:0000773	Short ribs	0	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal	.	4
HP:0000773	HP:0000773	Short ribs	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent	35
HP:0000773	HP:0000773	Short ribs	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	6
HP:0000773	HP:0000773	Short ribs	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0000773	HP:0000773	Short ribs	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent	136
HP:0000773	HP:0000773	Short ribs	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly		136
HP:0000773	HP:0006668	Twelfth rib hypoplasia	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0000773	HP:0006668	Twelfth rib hypoplasia	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0000773	HP:0006657	Hypoplasia of first ribs	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165
HP:0000773	HP:0006657	Hypoplasia of first ribs	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0000773	HP:0006657	Hypoplasia of first ribs	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49

Genes (70) :ALG12 ALPL C2CD3 CEP120 COL11A1 COL11A2 COL2A1 CSPP1 CUL7 DDR2 DDRGK1 DLK1 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B EVC EVC2 EZH2 FGFR3 FIG4 FLNA GNPTAB GPC3 GPC4 GPX4 HSPG2 IFT122 IFT140 IFT172 IFT43 IFT80 IFT81 IHH INPPL1 INTU KIAA0586 LAMA5 LBR LMX1B MEG3 MYF5 NEK1 NKX3-2 NSDHL ORC1 ORC6 PAM16 PLCB3 PORCN PTCH1 PTCH2 PTH1R RTL1 RUNX2 SCARF2 SETBP1 SF3B4 SLC26A2 SLC35D1 SMO SUFU TAPT1 TRIP11 TRPV4 TRPV6 UBA1 VAC14 WDR35

Diseases (72) :OMIM:607143 OMIM:241500 OMIM:615948 OMIM:616300 ORPHA:2021 OMIM:228520 OMIM:614524 ORPHA:93296 OMIM:200610 OMIM:151210 ORPHA:397715 OMIM:273750 OMIM:271665 OMIM:602557 ORPHA:96334 OMIM:613091 ORPHA:93271 OMIM:615503 OMIM:617088 OMIM:617405 OMIM:225500 OMIM:277590 OMIM:100800 OMIM:187600 OMIM:187601 ORPHA:3472 OMIM:304120 OMIM:252600 OMIM:312870 OMIM:250220 ORPHA:1865 OMIM:218330 OMIM:266920 OMIM:615630 OMIM:617866 OMIM:617895 OMIM:607778 ORPHA:3144 OMIM:617925 OMIM:616546 OMIM:620076 OMIM:215140 OMIM:161200 OMIM:618155 OMIM:263520 OMIM:613330 OMIM:308050 OMIM:224690 OMIM:613803 OMIM:613320 OMIM:618961 OMIM:305600 ORPHA:2092 OMIM:109400 ORPHA:50945 OMIM:215045 OMIM:156400 OMIM:119600 OMIM:600920 OMIM:269150 OMIM:154400 OMIM:600972 ORPHA:56304 OMIM:269250 OMIM:241800 OMIM:616897 OMIM:200600 OMIM:156530 OMIM:618188 ORPHA:1145 OMIM:613610 OMIM:614091

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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