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 upper lip morphology (HP:0000177)

Grandparent Node:
Cleft lip (HP:0410030)

Parent Node:
Cleft upper lip (HP:0000204)

..Starting node
..Non-midline cleft lip (HP:0100335)

Term ID:

100335

Name:

Non-midline cleft lip

Synonym:

Non-midline cleft of the upper lip; Paramedian cleft of the upper lip

Definition:

Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.

Comments:

Reference:

HP:0100335

Genes and Diseases:

Child Nodes:

........

Unilateral cleft lip (HP:0100333)

........

Bilateral cleft lip (HP:0100336)

................... HP:0002744 Bilateral cleft lip and palate

Sister Nodes:

Incomplete cleft of the upper lip (HP:0011340)

Median cleft lip (HP:0000161)

Submucous cleft lip (HP:0009101)

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:0100335	HP:0100335	Non-midline cleft lip	0	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome	HP:0040281 - Very frequent	38
HP:0100335	HP:0100335	Non-midline cleft lip	0	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome		1003
HP:0100335	HP:0100335	Non-midline cleft lip	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0100335	HP:0100335	Non-midline cleft lip	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0100335	HP:0100335	Non-midline cleft lip	0	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0100335	HP:0100335	Non-midline cleft lip	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional	2
HP:0100335	HP:0100335	Non-midline cleft lip	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040282 - Frequent	59
HP:0100335	HP:0100335	Non-midline cleft lip	0	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0100335	HP:0100335	Non-midline cleft lip	0	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional	2
HP:0100335	HP:0100335	Non-midline cleft lip	0	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome	HP:0040281 - Very frequent	172
HP:0100335	HP:0100335	Non-midline cleft lip	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0100335	HP:0100335	Non-midline cleft lip	0	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional	1
HP:0100335	HP:0100335	Non-midline cleft lip	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0100335	HP:0100335	Non-midline cleft lip	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0100335	HP:0100335	Non-midline cleft lip	0	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional
HP:0100335	HP:0100335	Non-midline cleft lip	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional	25
HP:0100335	HP:0100335	Non-midline cleft lip	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus		31
HP:0100335	HP:0100335	Non-midline cleft lip	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040282 - Frequent	99
HP:0100335	HP:0100335	Non-midline cleft lip	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040282 - Frequent	99
HP:0100335	HP:0100335	Non-midline cleft lip	0	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional	4
HP:0100335	HP:0100335	Non-midline cleft lip	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0100335	HP:0100335	Non-midline cleft lip	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus		167
HP:0100335	HP:0100335	Non-midline cleft lip	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0100335	HP:0100335	Non-midline cleft lip	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0100335	HP:0100335	Non-midline cleft lip	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040282 - Frequent	12
HP:0100335	HP:0100335	Non-midline cleft lip	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040283 - Occasional	706
HP:0100335	HP:0100335	Non-midline cleft lip	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0100335	HP:0100335	Non-midline cleft lip	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040282 - Frequent	4
HP:0100335	HP:0100335	Non-midline cleft lip	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent	37
HP:0100335	HP:0100335	Non-midline cleft lip	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0100335	HP:0100335	Non-midline cleft lip	0	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0100335	HP:0100335	Non-midline cleft lip	0	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional	572
HP:0100335	HP:0100335	Non-midline cleft lip	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0100335	HP:0100335	Non-midline cleft lip	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040283 - Occasional	49
HP:0100335	HP:0100335	Non-midline cleft lip	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0100335	HP:0100335	Non-midline cleft lip	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome		504
HP:0100335	HP:0100335	Non-midline cleft lip	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0100335	HP:0100335	Non-midline cleft lip	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0100335	HP:0100335	Non-midline cleft lip	0	SUMO1 CL E G H	7341	12502	OMIM:613705	Orofacial cleft 10		8
HP:0100335	HP:0100335	Non-midline cleft lip	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0100335	HP:0100335	Non-midline cleft lip	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040282 - Frequent	12
HP:0100335	HP:0100335	Non-midline cleft lip	0	TP63 CL E G H	8626	15979	ORPHA:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome	HP:0040283 - Occasional	140
HP:0100335	HP:0100335	Non-midline cleft lip	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040282 - Frequent	140
HP:0100335	HP:0100335	Non-midline cleft lip	0	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional
HP:0100335	HP:0100335	Non-midline cleft lip	0	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability		2
HP:0100335	HP:0100336	Bilateral cleft lip	1	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome		1003
HP:0100335	HP:0100336	Bilateral cleft lip	1	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0100335	HP:0100336	Bilateral cleft lip	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0100335	HP:0100336	Bilateral cleft lip	1	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0100335	HP:0100336	Bilateral cleft lip	1	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15		1
HP:0100335	HP:0100333	Unilateral cleft lip	1	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0100335	HP:0100336	Bilateral cleft lip	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0100335	HP:0100333	Unilateral cleft lip	1	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	31
HP:0100335	HP:0100336	Bilateral cleft lip	1	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	99
HP:0100335	HP:0100333	Unilateral cleft lip	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0100335	HP:0100333	Unilateral cleft lip	1	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent	167
HP:0100335	HP:0100336	Bilateral cleft lip	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0100335	HP:0100333	Unilateral cleft lip	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0100335	HP:0100333	Unilateral cleft lip	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0100335	HP:0100336	Bilateral cleft lip	1	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	12
HP:0100335	HP:0100336	Bilateral cleft lip	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0100335	HP:0100336	Bilateral cleft lip	1	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	4
HP:0100335	HP:0100336	Bilateral cleft lip	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0100335	HP:0100336	Bilateral cleft lip	1	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0100335	HP:0100336	Bilateral cleft lip	1	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2	.
HP:0100335	HP:0100336	Bilateral cleft lip	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0100335	HP:0100333	Unilateral cleft lip	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040283 - Occasional	504
HP:0100335	HP:0100336	Bilateral cleft lip	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0100335	HP:0100336	Bilateral cleft lip	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0100335	HP:0100333	Unilateral cleft lip	1	SUMO1 CL E G H	7341	12502	OMIM:613705	Orofacial cleft 10	.	8
HP:0100335	HP:0100333	Unilateral cleft lip	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0100335	HP:0100336	Bilateral cleft lip	1	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional	140
HP:0100335	HP:0100336	Bilateral cleft lip	1	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability		2
HP:0100335	HP:0002744	Bilateral cleft lip and palate	2	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040281 - Very frequent	1003
HP:0100335	HP:0002744	Bilateral cleft lip and palate	2	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0100335	HP:0002744	Bilateral cleft lip and palate	2	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040281 - Very frequent
HP:0100335	HP:0002744	Bilateral cleft lip and palate	2	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0100335	HP:0002744	Bilateral cleft lip and palate	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0100335	HP:0002744	Bilateral cleft lip and palate	2	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040281 - Very frequent	4
HP:0100335	HP:0002744	Bilateral cleft lip and palate	2	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0100335	HP:0002744	Bilateral cleft lip and palate	2	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0100335	HP:0002744	Bilateral cleft lip and palate	2	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0100335	HP:0002744	Bilateral cleft lip and palate	2	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability	HP:0040282 - Frequent	2

Genes (42) :B3GALT6 CDH1 CHUK CILK1 CTNND1 DDX59 DHODH DLX4 FGF20 FGFR1 GDF11 GFRA1 GJA1 GLI2 GREB1L HOXD13 HYLS1 IRF6 ITGA8 KAT5 KIF7 MED12 MID1 MSX1 NBN NECTIN1 PIGN PTCH1 RAB5IF RET RSPO2 SF3B4 SIX3 SMAD4 SMPD4 SPOP SUMO1 TAPT1 TFAP2A TP63 WNT9B YAP1

Diseases (35) :ORPHA:2725 ORPHA:1997 OMIM:619339 OMIM:612651 ORPHA:2919 ORPHA:246 OMIM:616788 ORPHA:1848 ORPHA:2117 OMIM:619122 ORPHA:2710 OMIM:610829 ORPHA:887 ORPHA:2189 ORPHA:1300 ORPHA:199302 OMIM:619103 OMIM:301068 OMIM:300000 ORPHA:647 ORPHA:3253 ORPHA:2059 OMIM:610828 OMIM:616994 OMIM:618021 ORPHA:245 OMIM:157170 ORPHA:2588 OMIM:618622 OMIM:618829 OMIM:613705 OMIM:616897 ORPHA:1297 ORPHA:1072 ORPHA:1473

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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