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:
Cleft upper lip (HP:0000204)

Parent Node:
Non-midline cleft lip (HP:0100335)

..Starting node
..Bilateral cleft lip (HP:0100336)

Term ID:

100336

Name:

Bilateral cleft lip

Synonym:

Bilateral cheiloschisis; Both sided cleft lip; Right and left cleft lip

Definition:

A non-midline cleft of the upper lip on the left and right sides.

Comments:

Reference:

HP:0100336

Genes and Diseases:

Child Nodes:

........

Bilateral cleft lip and palate (HP:0002744)

Sister Nodes:

Unilateral cleft lip (HP:0100333)

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:0100336	HP:0100336	Bilateral cleft lip	0	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome		1003
HP:0100336	HP:0100336	Bilateral cleft lip	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0100336	HP:0100336	Bilateral cleft lip	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0100336	HP:0100336	Bilateral cleft lip	0	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0100336	HP:0100336	Bilateral cleft lip	0	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0100336	HP:0100336	Bilateral cleft lip	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0100336	HP:0100336	Bilateral cleft lip	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	99
HP:0100336	HP:0100336	Bilateral cleft lip	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0100336	HP:0100336	Bilateral cleft lip	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	12
HP:0100336	HP:0100336	Bilateral cleft lip	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0100336	HP:0100336	Bilateral cleft lip	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	4
HP:0100336	HP:0100336	Bilateral cleft lip	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0100336	HP:0100336	Bilateral cleft lip	0	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0100336	HP:0100336	Bilateral cleft lip	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2	.
HP:0100336	HP:0100336	Bilateral cleft lip	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0100336	HP:0100336	Bilateral cleft lip	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0100336	HP:0100336	Bilateral cleft lip	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0100336	HP:0100336	Bilateral cleft lip	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	140
HP:0100336	HP:0100336	Bilateral cleft lip	0	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability		2
HP:0100336	HP:0002744	Bilateral cleft lip and palate	1	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040281 - Very frequent	1003
HP:0100336	HP:0002744	Bilateral cleft lip and palate	1	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0100336	HP:0002744	Bilateral cleft lip and palate	1	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040281 - Very frequent
HP:0100336	HP:0002744	Bilateral cleft lip and palate	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0100336	HP:0002744	Bilateral cleft lip and palate	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0100336	HP:0002744	Bilateral cleft lip and palate	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040281 - Very frequent	4
HP:0100336	HP:0002744	Bilateral cleft lip and palate	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0100336	HP:0002744	Bilateral cleft lip and palate	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0100336	HP:0002744	Bilateral cleft lip and palate	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0100336	HP:0002744	Bilateral cleft lip and palate	1	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability	HP:0040282 - Frequent	2

Genes (18) :CDH1 CHUK CILK1 CTNND1 DLX4 GLI2 IRF6 MED12 MSX1 NECTIN1 PTCH1 RAB5IF RSPO2 SIX3 SMPD4 SPOP TP63 YAP1

Diseases (15) :ORPHA:1997 OMIM:619339 OMIM:612651 OMIM:616788 OMIM:610829 ORPHA:199302 OMIM:301068 ORPHA:3253 OMIM:610828 OMIM:616994 OMIM:618021 OMIM:157170 OMIM:618622 OMIM:618829 ORPHA:1473

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