Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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 external nose morphology (HP:0010938)

Parent Node:
Abnormal nasal dorsum morphology (HP:0011119)

..Starting node
..Convex nasal ridge (HP:0000444)

Term ID:

444

Name:

Convex nasal ridge

Synonym:

Beaked nose; Beaklike protrusion; Convex dorsum of nose; Convex nasal dorsum; Hooked nose; Polly beak nasal deformity

Definition:

Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.

Comments:

Reference:

HP:0000444

Genes and Diseases:

Child Nodes:

Sister Nodes:

Concave nasal ridge (HP:0011120)

Depressed nasal ridge (HP:0000457)

Large beaked nose (HP:0003683)

Narrow nasal ridge (HP:0000418)

Wide nasal ridge (HP:0012811)

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:0000444	HP:0000444	Convex nasal ridge	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0000444	HP:0000444	Convex nasal ridge	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome		93
HP:0000444	HP:0000444	Convex nasal ridge	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	3179
HP:0000444	HP:0000444	Convex nasal ridge	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs	.	4
HP:0000444	HP:0000444	Convex nasal ridge	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0000444	HP:0000444	Convex nasal ridge	0	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial	HP:0040283 - Occasional	168
HP:0000444	HP:0000444	Convex nasal ridge	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	168
HP:0000444	HP:0000444	Convex nasal ridge	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0000444	HP:0000444	Convex nasal ridge	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	1
HP:0000444	HP:0000444	Convex nasal ridge	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.	22
HP:0000444	HP:0000444	Convex nasal ridge	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0000444	HP:0000444	Convex nasal ridge	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040282 - Frequent	13
HP:0000444	HP:0000444	Convex nasal ridge	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	20
HP:0000444	HP:0000444	Convex nasal ridge	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	161
HP:0000444	HP:0000444	Convex nasal ridge	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	146
HP:0000444	HP:0000444	Convex nasal ridge	0	CEP152 CL E G H	22995	29298	OMIM:613823	Seckel syndrome 5	.	146
HP:0000444	HP:0000444	Convex nasal ridge	0	COG4 CL E G H	25839	18620	ORPHA:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	HP:0040281 - Very frequent	67
HP:0000444	HP:0000444	Convex nasal ridge	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0000444	HP:0000444	Convex nasal ridge	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.	373
HP:0000444	HP:0000444	Convex nasal ridge	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.	243
HP:0000444	HP:0000444	Convex nasal ridge	0	COL3A1 CL E G H	1281	2201	ORPHA:2500	Acrogeria	HP:0040282 - Frequent	749
HP:0000444	HP:0000444	Convex nasal ridge	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000444	HP:0000444	Convex nasal ridge	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000444	HP:0000444	Convex nasal ridge	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent	291
HP:0000444	HP:0000444	Convex nasal ridge	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040282 - Frequent	291
HP:0000444	HP:0000444	Convex nasal ridge	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000444	HP:0000444	Convex nasal ridge	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000444	HP:0000444	Convex nasal ridge	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0000444	HP:0000444	Convex nasal ridge	0	DNA2 CL E G H	1763	2939	OMIM:615807	Seckel syndrome 8	.	41
HP:0000444	HP:0000444	Convex nasal ridge	0	DONSON CL E G H	29980	2993	OMIM:617604	Microcephaly, short stature, and limb abnormalities	.	9
HP:0000444	HP:0000444	Convex nasal ridge	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.	9
HP:0000444	HP:0000444	Convex nasal ridge	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000444	HP:0000444	Convex nasal ridge	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	HP:0040283 - Occasional	45
HP:0000444	HP:0000444	Convex nasal ridge	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1		172
HP:0000444	HP:0000444	Convex nasal ridge	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000444	HP:0000444	Convex nasal ridge	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.	250
HP:0000444	HP:0000444	Convex nasal ridge	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040282 - Frequent	250
HP:0000444	HP:0000444	Convex nasal ridge	0	ERCC2 CL E G H	2068	3434	OMIM:610756	Cerebrooculofacioskeletal syndrome 2	.	106
HP:0000444	HP:0000444	Convex nasal ridge	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.	158
HP:0000444	HP:0000444	Convex nasal ridge	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040283 - Occasional	12
HP:0000444	HP:0000444	Convex nasal ridge	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040282 - Frequent	175
HP:0000444	HP:0000444	Convex nasal ridge	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040283 - Occasional	175
HP:0000444	HP:0000444	Convex nasal ridge	0	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome	HP:0040282 - Frequent	175
HP:0000444	HP:0000444	Convex nasal ridge	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0000444	HP:0000444	Convex nasal ridge	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	175
HP:0000444	HP:0000444	Convex nasal ridge	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040283 - Occasional	145
HP:0000444	HP:0000444	Convex nasal ridge	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	145
HP:0000444	HP:0000444	Convex nasal ridge	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000444	HP:0000444	Convex nasal ridge	0	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3	.	80
HP:0000444	HP:0000444	Convex nasal ridge	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0000444	HP:0000444	Convex nasal ridge	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0000444	HP:0000444	Convex nasal ridge	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0000444	HP:0000444	Convex nasal ridge	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000444	HP:0000444	Convex nasal ridge	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0000444	HP:0000444	Convex nasal ridge	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0000444	HP:0000444	Convex nasal ridge	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0000444	HP:0000444	Convex nasal ridge	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2		645
HP:0000444	HP:0000444	Convex nasal ridge	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	124
HP:0000444	HP:0000444	Convex nasal ridge	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000444	HP:0000444	Convex nasal ridge	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040282 - Frequent	22
HP:0000444	HP:0000444	Convex nasal ridge	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040283 - Occasional	7
HP:0000444	HP:0000444	Convex nasal ridge	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0000444	HP:0000444	Convex nasal ridge	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent	706
HP:0000444	HP:0000444	Convex nasal ridge	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10		9
HP:0000444	HP:0000444	Convex nasal ridge	0	NHEJ1 CL E G H	79840	25737	ORPHA:169079	Cernunnos-XLF deficiency	HP:0040281 - Very frequent	20
HP:0000444	HP:0000444	Convex nasal ridge	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0000444	HP:0000444	Convex nasal ridge	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0000444	HP:0000444	Convex nasal ridge	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent
HP:0000444	HP:0000444	Convex nasal ridge	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	531
HP:0000444	HP:0000444	Convex nasal ridge	0	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B	.	169
HP:0000444	HP:0000444	Convex nasal ridge	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	11
HP:0000444	HP:0000444	Convex nasal ridge	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.	731
HP:0000444	HP:0000444	Convex nasal ridge	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0000444	HP:0000444	Convex nasal ridge	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0000444	HP:0000444	Convex nasal ridge	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0000444	HP:0000444	Convex nasal ridge	0	PRPS1 CL E G H	5631	9462	OMIM:300661	Phosphoribosylpyrophosphate synthetase superactivity		49
HP:0000444	HP:0000444	Convex nasal ridge	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.	22
HP:0000444	HP:0000444	Convex nasal ridge	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	68
HP:0000444	HP:0000444	Convex nasal ridge	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0000444	HP:0000444	Convex nasal ridge	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent	37
HP:0000444	HP:0000444	Convex nasal ridge	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4	.	33
HP:0000444	HP:0000444	Convex nasal ridge	0	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly	.	90
HP:0000444	HP:0000444	Convex nasal ridge	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional	34
HP:0000444	HP:0000444	Convex nasal ridge	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0000444	HP:0000444	Convex nasal ridge	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000444	HP:0000444	Convex nasal ridge	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000444	HP:0000444	Convex nasal ridge	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0000444	HP:0000444	Convex nasal ridge	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0000444	HP:0000444	Convex nasal ridge	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent	52
HP:0000444	HP:0000444	Convex nasal ridge	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040281 - Very frequent	2
HP:0000444	HP:0000444	Convex nasal ridge	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	.	2
HP:0000444	HP:0000444	Convex nasal ridge	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0000444	HP:0000444	Convex nasal ridge	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	18
HP:0000444	HP:0000444	Convex nasal ridge	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0000444	HP:0000444	Convex nasal ridge	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0000444	HP:0000444	Convex nasal ridge	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0000444	HP:0000444	Convex nasal ridge	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome	.	310
HP:0000444	HP:0000444	Convex nasal ridge	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040281 - Very frequent	310
HP:0000444	HP:0000444	Convex nasal ridge	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0000444	HP:0000444	Convex nasal ridge	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0000444	HP:0000444	Convex nasal ridge	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0000444	HP:0000444	Convex nasal ridge	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0000444	HP:0000444	Convex nasal ridge	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040282 - Frequent	83
HP:0000444	HP:0000444	Convex nasal ridge	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0000444	HP:0000444	Convex nasal ridge	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF

Genes (77) :ALG9 APC ASPH ATP7A ATR ATRIP BANF1 C12ORF57 CENPE CENPJ CEP152 COG4 COL1A1 COL1A2 COL3A1 CPLX1 CREBBP CSGALNACT1 CTBP1 CTSK DNA2 DONSON DPF2 EFEMP2 ELN EP300 ERCC2 ERCC4 ERF FGFR2 FGFR3 FGFRL1 GRIP1 IL11RA ITCH LEMD2 LETM1 LMNA LRP4 LTBP1 MBTPS2 MEIS2 MGAT2 NBN NEK9 NHEJ1 NSD2 NUP188 NUP85 PCNT PEX1 PLK4 POLD1 POLR3A PPP2R3C PRPS1 PTF1A RBBP8 RLIM RMRP RNASEH2A RUNX2 SATB2 SCARF2 SLC25A24 SLC2A10 TBCE TRAIP TRIP13 TWIST1 UBR1 VPS13B WRN XRCC4 ZEB2 ZMPSTE24 ZPR1

Diseases (84) :ORPHA:79328 OMIM:263210 ORPHA:3258 OMIM:601552 OMIM:304150 OMIM:614564 ORPHA:808 OMIM:210600 OMIM:614008 OMIM:218340 ORPHA:1777 OMIM:613823 ORPHA:85172 OMIM:618150 OMIM:166210 ORPHA:2500 OMIM:194190 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:618870 ORPHA:763 OMIM:615807 OMIM:617604 OMIM:251230 OMIM:618027 OMIM:614437 OMIM:123700 OMIM:613684 ORPHA:353284 OMIM:610756 OMIM:610965 ORPHA:207 ORPHA:87 ORPHA:1540 OMIM:101400 ORPHA:794 ORPHA:93262 OMIM:617667 OMIM:614188 OMIM:613385 OMIM:619322 ORPHA:79474 ORPHA:740 OMIM:248370 OMIM:619793 OMIM:619451 ORPHA:85284 ORPHA:261190 ORPHA:79329 ORPHA:647 OMIM:617022 ORPHA:169079 OMIM:618804 OMIM:601539 OMIM:615381 OMIM:264090 ORPHA:3455 OMIM:618419 OMIM:300661 OMIM:609069 OMIM:300978 ORPHA:175 OMIM:610333 OMIM:156510 ORPHA:251019 ORPHA:251028 OMIM:600920 OMIM:612289 OMIM:208050 OMIM:241410 ORPHA:2323 OMIM:616777 OMIM:617598 OMIM:243800 OMIM:216550 OMIM:277700 ORPHA:902 OMIM:616541 ORPHA:261552 ORPHA:261537 ORPHA:90154 OMIM:275210 OMIM:619321

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen