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:
Clinical modifier (HP:0012823)

Parent Node:
Phenotypic variability (HP:0003812)

..Starting node
..Typified by incomplete penetrance (HP:0003829)

Term ID:

3829

Name:

Typified by incomplete penetrance

Synonym:

Incomplete penetrance; Reduced penetrance

Definition:

Description of conditions in which only a limited proportion of individuals with a given genotype exhibit the disease regardless of age.

Comments:

Reference:

HP:0003829

Genes and Diseases:

Child Nodes:

........

Age-dependent penetrance (HP:0003831)

Sister Nodes:

Variable expressivity (HP:0003828)

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:0003829	HP:0003829	Typified by incomplete penetrance	0	ACTN4 CL E G H	81	166	OMIM:603278	Focal segmental glomerulosclerosis 1	.	27
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	ANO3 CL E G H	63982	14004	OMIM:615034	Dystonia 24	.	17
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.	239
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12	.	150
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy	.
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.	9
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	BRCA2 CL E G H	675	1101	OMIM:155255	MEDULLOBLASTOMA	.	7642
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2	.	449
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	CACNA1S CL E G H	779	1397	OMIM:170400	Hypokalemic periodic paralysis, type 1	.	247
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5	.	146
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3	.	11
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	CDH23 CL E G H	64072	13733	OMIM:617540	Pituitary adenoma 5, multiple types	.	636
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.	13
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	CHRNA2 CL E G H	1135	1956	OMIM:610353	Epilepsy, nocturnal frontal lobe, 4	.	188
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	CHRNA4 CL E G H	1137	1958	OMIM:600513	Epilepsy, nocturnal frontal lobe, type 1	.	225
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	CHRNA7 CL E G H	1139	1960	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome		52
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	CILK1 CL E G H	22858	21219	OMIM:617924	Epilepsy, juvenile myoclonic, susceptibility to, 10	.
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	CLCN2 CL E G H	1181	2020	OMIM:605635	Hyperaldosteronism, familial, type II	.	44
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.	193
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2		147
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy	.
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria	.	72
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	CRELD1 CL E G H	78987	14630	OMIM:606217	Atrioventricular septal defect, susceptibility to, 2	.	19
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	CTNNB1 CL E G H	1499	2514	OMIM:155255	MEDULLOBLASTOMA	.	88
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy	.
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	DCC CL E G H	1630	2701	OMIM:157600	Mirror movements 1	.	36
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	DCX CL E G H	1641	2714	OMIM:300067	Lissencephaly, X-linked, 1	.	145
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	DDX41 CL E G H	51428	18674	OMIM:616871	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to	.	23
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	DEPDC5 CL E G H	9681	18423	OMIM:604364	Epilepsy, familial focal, with variable foci	.	172
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	DLST CL E G H	1743	2911	OMIM:618475	Paragangliomas 7	.
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	DLX5 CL E G H	1749	2918	OMIM:183600	Split-Hand/foot malformation 1	.	3
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	DSTYK CL E G H	25778	29043	OMIM:610805	Congenital anomalies of kidney and urinary tract, susceptibility to	.	13
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34	.	62
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	ELP1 CL E G H	8518	5959	OMIM:155255	MEDULLOBLASTOMA	.	133
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	EPHB4 CL E G H	2050	3395	OMIM:618196	Capillary malformation-arteriovenous malformation 2	.	3
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to	.	12
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.	135
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant	.	51
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	.	172
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	FH CL E G H	2271	3700	OMIM:150800	Hereditary leiomyomatosis and renal cell cancer	.	301
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	FLCN CL E G H	201163	27310	OMIM:173600	Pneumothorax, primary spontaneous	.	332
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.	30
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	FOXE3 CL E G H	2301	3808	OMIM:617349	AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO; AAT11		23
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	GABRB3 CL E G H	2562	4083	OMIM:612269	EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5; ECA5		57
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	GABRG2 CL E G H	2566	4087	OMIM:607681	Febrile seizures, familial, 8	.	139
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	.	10
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	39
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	34
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	.	107
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	GJC2 CL E G H	57165	17494	OMIM:613480	Lymphedema, hereditary, IC	.	37
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome	.	173
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	GPR161 CL E G H	23432	23694	OMIM:155255	MEDULLOBLASTOMA	.	2
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	GREB1L CL E G H	80000	31042	OMIM:617805	Renal hypodysplasia/aplasia 3	.
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD		434
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	HCN1 CL E G H	348980	4845	OMIM:618482	Generalized epilepsy with febrile seizures plus, type 10	.	54
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.	5
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	.	28
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13		8
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	INAVA CL E G H	55765	25599	OMIM:618077	INFLAMMATORY BOWEL DISEASE 29; IBD29
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.	46
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.	202
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	KIF5A CL E G H	3798	6323	OMIM:617921	Amyotrophic lateral sclerosis, susceptibility to, 25	.	93
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	KLF13 CL E G H	51621	13672	OMIM:612001	Chromosome 15q13.3 microdeletion syndrome
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	.	11
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	KRIT1 CL E G H	889	1573	OMIM:116860	Cerebral cavernous malformations 1	.	92
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	LRP5 CL E G H	4041	6697	OMIM:617875	Polycystic liver disease 4 with or without kidney cysts	.	125
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant	.	221
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P	.	102
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	LZTR1 CL E G H	8216	6742	OMIM:615670	Schwannomatosis 2	.	43
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	MET CL E G H	4233	7029	OMIM:605074	RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1		375
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.	203
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	MN1 CL E G H	4330	7180	OMIM:607174	Meningioma, familial, susceptibility to	.	1
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	MNX1 CL E G H	3110	4979	OMIM:176450	Currarino syndrome	.	17
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	MSH6 CL E G H	2956	7329	OMIM:614350	Colorectal cancer, hereditary nonpolyposis, type 5	.	2232
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy	.
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy	.
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy	.
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy	.
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy	.
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy	.
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	NF2 CL E G H	4771	7773	OMIM:607174	Meningioma, familial, susceptibility to	.	220
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	NF2 CL E G H	4771	7773	OMIM:162091	SCHWANNOMATOSIS	.	220
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2	.	99
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	NPRL2 CL E G H	10641	24969	OMIM:617116	Epilepsy, familial focal, with variable foci 2	.	4
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	NPRL3 CL E G H	8131	14124	OMIM:617118	Epilepsy, familial focal, with variable foci 3	.	7
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	NR5A1 CL E G H	2516	7983	OMIM:617480	46,xx sex reversal 4	.	38
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	NRIP1 CL E G H	8204	8001	OMIM:618270	Congenital anomalies of kidney and urinary tract 3	.	1
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.	214
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	OTULIN CL E G H	90268	25118	OMIM:619986			3
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	PARN CL E G H	5073	8609	OMIM:616371	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4		26
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	PAX2 CL E G H	5076	8616	OMIM:616002	Focal segmental glomerulosclerosis 7	.	39
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	PDGFB CL E G H	5155	8800	OMIM:607174	Meningioma, familial, susceptibility to	.	9
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2	.	106
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9	.	23
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	POT1 CL E G H	25913	17284	OMIM:615848	Melanoma, cutaneous malignant, susceptibility to, 10	.	23
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	PRCC CL E G H	5546	9343	OMIM:605074	RENAL CELL CARCINOMA, PAPILLARY, 1; RCCP1
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.	83
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia	.	9
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia	.	34
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11		70
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13	.	94
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	PRRT2 CL E G H	112476	30500	OMIM:128200	Episodic kinesigenic dyskinesia 1	.	94
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	PRRT2 CL E G H	112476	30500	OMIM:605751	Seizures, benign familial infantile, 2	.	94
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7	.	665
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	PTCH2 CL E G H	8643	9586	OMIM:155255	MEDULLOBLASTOMA	.	40
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	PTEN CL E G H	5728	9588	OMIM:607174	Meningioma, familial, susceptibility to	.	948
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47	.	1
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	RAD51 CL E G H	5888	9817	OMIM:614508	Mirror movements 2		9
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3	.	57
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	RBM12 CL E G H	10137	9898	OMIM:617629	Schizophrenia 19	.	2
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	RELN CL E G H	5649	9957	OMIM:616436	EPILEPSY, FAMILIAL TEMPORAL LOBE, 7; ETL7		334
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15	.	3
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	RPS29 CL E G H	6235	10419	OMIM:615909	Diamond-Blackfan anemia 13	.	3
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	RTEL1 CL E G H	51750	15888	OMIM:616373	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3; PFBMFT3		77
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	SCN1B CL E G H	6324	10586	OMIM:604233	Generalized epilepsy with febrile seizures plus, type 1	.	126
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	SCN4A CL E G H	6329	10591	OMIM:170400	Hypokalemic periodic paralysis, type 1	.	263
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	SDHB CL E G H	6390	10681	OMIM:115310	Paragangliomas 4	.	237
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	SGCE CL E G H	8910	10808	OMIM:159900	Dystonia 11, myoclonic	.	49
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.	67
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	SHH CL E G H	6469	10848	OMIM:611638	Microphthalmia, isolated, with coloboma 5	.	67
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	SLC12A5 CL E G H	57468	13818	OMIM:616685	Epilepsy, idiopathic generalized, susceptibility to, 14	.	8
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	SLC2A1 CL E G H	6513	11005	OMIM:614847	Epilepsy, idiopathic generalized, susceptibility to, 12	.	255
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2	.	255
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2	.	132
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	SMARCB1 CL E G H	6598	11103	OMIM:162091	SCHWANNOMATOSIS	.	87
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	SMARCE1 CL E G H	6605	11109	OMIM:607174	Meningioma, familial, susceptibility to	.	47
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	STAT1 CL E G H	6772	11362	OMIM:614892	Immunodeficiency 31A	.	89
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	SUFU CL E G H	51684	16466	OMIM:155255	MEDULLOBLASTOMA	.	124
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	SUFU CL E G H	51684	16466	OMIM:607174	Meningioma, familial, susceptibility to	.	124
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	TBK1 CL E G H	29110	11584	OMIM:617900	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8	.	20
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	TENM4 CL E G H	26011	29945	OMIM:616736	Tremor, hereditary essential, 5	.	5
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	.	48
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1		238
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	THAP1 CL E G H	55145	20856	OMIM:602629	Dystonia 6, torsion		42
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	TICAM1 CL E G H	148022	18348	OMIM:614850	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6	.	6
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	TLR3 CL E G H	7098	11849	OMIM:613002	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2	.	3
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	TM4SF20 CL E G H	79853	26230	OMIM:615432	SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5		3
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.	214
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.	214
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	TTN CL E G H	7273	12403	OMIM:600334	Tibial muscular dystrophy, tardive	.	7128
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	UCHL1 CL E G H	7345	12513	OMIM:613643	PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK5		21
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy	.	10
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1	.	533
HP:0003829	HP:0003829	Typified by incomplete penetrance	0	WNT10B CL E G H	7480	12775	OMIM:225300	SPLIT-HAND/FOOT MALFORMATION 6; SHFM6		4

Genes (145) :ACTN4 ANO3 ATL1 ATP1A2 ATP1A3 ATP6 ATXN10 BMPR2 BRCA2 CACNA1A CACNA1S CACNB4 CAV1 CDH23 CFC1 CHRNA2 CHRNA4 CHRNA7 CILK1 CLCN2 COL4A1 COL4A2 COX3 CPOX CRELD1 CTLA4 CTNNB1 CYTB DCC DCX DDX41 DEPDC5 DLST DLX5 DSTYK ELOVL4 ELP1 EPHB4 ERBB3 EYA1 FGF23 FGFR1 FH FLCN FMR1 FOXE3 GABRB3 GABRG2 GATA5 GJA5 GJA8 GJB1 GJC2 GLI2 GPR161 GREB1L GRIN2A HCN1 HNRNPDL IFIH1 IKZF1 INAVA JAG1 KIF11 KIF1B KIF5A KLF13 KMT2B KRIT1 LRP5 LRRK2 LRSAM1 LZTR1 MET MFN2 MN1 MNX1 MSH6 ND1 ND2 ND4 ND4L ND5 ND6 NF2 NLRP12 NPRL2 NPRL3 NR5A1 NRIP1 OPA1 OTULIN PARN PAX2 PDGFB PITX1 PKD2 POT1 PRCC PRKCG PROK2 PROKR2 PRPF31 PRPF8 PRRT2 PTCH1 PTCH2 PTEN PUM1 RAD51 RANBP2 RBM12 RELN RORB RPS29 RTEL1 SCN1B SCN4A SDHB SGCE SHH SIX1 SIX3 SLC12A5 SLC2A1 SMAD9 SMARCB1 SMARCE1 STAT1 SUFU TBK1 TENM4 TERC TERT THAP1 TICAM1 TLR3 TM4SF20 TOR1A TRPV4 TTN UCHL1 VMA21 VWF WNT10B

Diseases (131) :OMIM:603278 OMIM:615034 OMIM:182600 OMIM:602481 OMIM:128235 OMIM:535000 OMIM:603516 OMIM:178600 OMIM:155255 OMIM:108500 OMIM:170400 OMIM:613855 OMIM:615343 OMIM:617540 OMIM:605376 OMIM:610353 OMIM:600513 OMIM:612001 OMIM:617924 OMIM:605635 OMIM:175780 OMIM:614483 OMIM:121300 OMIM:606217 OMIM:616100 OMIM:157600 OMIM:300067 OMIM:616871 OMIM:604364 OMIM:618475 OMIM:183600 OMIM:610805 OMIM:133190 OMIM:618196 OMIM:133180 OMIM:602588 OMIM:113650 OMIM:193100 OMIM:147950 OMIM:150800 OMIM:173600 OMIM:300624 OMIM:617349 OMIM:612269 OMIM:607681 OMIM:617912 OMIM:612474 OMIM:302800 OMIM:613480 OMIM:615849 OMIM:610829 OMIM:617805 OMIM:245570 OMIM:618482 OMIM:609115 OMIM:615846 OMIM:616873 OMIM:618077 OMIM:118450 OMIM:152950 OMIM:256700 OMIM:617921 OMIM:617284 OMIM:116860 OMIM:617875 OMIM:607060 OMIM:614436 OMIM:615670 OMIM:605074 OMIM:609260 OMIM:607174 OMIM:176450 OMIM:614350 OMIM:162091 OMIM:611762 OMIM:617116 OMIM:617118 OMIM:617480 OMIM:618270 OMIM:165500 OMIM:619986 OMIM:616371 OMIM:616002 OMIM:119800 OMIM:613095 OMIM:616568 OMIM:615848 OMIM:605361 OMIM:610628 OMIM:244200 OMIM:600138 OMIM:600059 OMIM:128200 OMIM:605751 OMIM:610828 OMIM:617931 OMIM:614508 OMIM:608033 OMIM:617629 OMIM:616436 OMIM:618357 OMIM:615909 OMIM:616373 OMIM:604233 OMIM:115310 OMIM:159900 OMIM:142945 OMIM:611638 OMIM:157170 OMIM:616685 OMIM:614847 OMIM:612126 OMIM:615342 OMIM:614892 OMIM:617900 OMIM:616736 OMIM:614743 OMIM:614742 OMIM:602629 OMIM:614850 OMIM:613002 OMIM:615432 OMIM:128100 OMIM:606071 OMIM:181405 OMIM:600175 OMIM:600334 OMIM:613643 OMIM:310440 OMIM:193400 OMIM:225300

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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