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:
Abnormality of finger (HP:0001167)

Parent Node:
Long fingers (HP:0100807)

..Starting node
..Tapered finger (HP:0001182)

Term ID:

1182

Name:

Tapered finger

Synonym:

Distally tapering fingers; Tapered finger; Tapered fingers; Tapered fingertips; Tapering fingers

Definition:

The gradual reduction in girth of the finger from proximal to distal.

Comments:

Reference:

HP:0001182

Genes and Diseases:

Child Nodes:

Sister Nodes:

Arachnodactyly (HP:0001166)

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:0001182	HP:0001182	Tapered finger	0	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040282 - Frequent	19
HP:0001182	HP:0001182	Tapered finger	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0001182	HP:0001182	Tapered finger	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	95
HP:0001182	HP:0001182	Tapered finger	0	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040282 - Frequent	2
HP:0001182	HP:0001182	Tapered finger	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.	166
HP:0001182	HP:0001182	Tapered finger	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0001182	HP:0001182	Tapered finger	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0001182	HP:0001182	Tapered finger	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0001182	HP:0001182	Tapered finger	0	BCORL1 CL E G H	63035	25657	OMIM:301029	Shukla-Vernon syndrome	.	17
HP:0001182	HP:0001182	Tapered finger	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0001182	HP:0001182	Tapered finger	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	.	7
HP:0001182	HP:0001182	Tapered finger	0	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.	3
HP:0001182	HP:0001182	Tapered finger	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0001182	HP:0001182	Tapered finger	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.	6
HP:0001182	HP:0001182	Tapered finger	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001182	HP:0001182	Tapered finger	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2	.	405
HP:0001182	HP:0001182	Tapered finger	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0001182	HP:0001182	Tapered finger	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent	27
HP:0001182	HP:0001182	Tapered finger	0	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS		2
HP:0001182	HP:0001182	Tapered finger	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0001182	HP:0001182	Tapered finger	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional	65
HP:0001182	HP:0001182	Tapered finger	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0001182	HP:0001182	Tapered finger	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0001182	HP:0001182	Tapered finger	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.	24
HP:0001182	HP:0001182	Tapered finger	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001182	HP:0001182	Tapered finger	0	DLX5 CL E G H	1749	2918	OMIM:220600	Split-Hand/foot malformation 1 with sensorineural hearing loss	HP:0040283 - Occasional	3
HP:0001182	HP:0001182	Tapered finger	0	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	.	3
HP:0001182	HP:0001182	Tapered finger	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001182	HP:0001182	Tapered finger	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001182	HP:0001182	Tapered finger	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040282 - Frequent	13
HP:0001182	HP:0001182	Tapered finger	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040282 - Frequent	134
HP:0001182	HP:0001182	Tapered finger	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional	134
HP:0001182	HP:0001182	Tapered finger	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0001182	HP:0001182	Tapered finger	0	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.	13
HP:0001182	HP:0001182	Tapered finger	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare	223
HP:0001182	HP:0001182	Tapered finger	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040282 - Frequent	8
HP:0001182	HP:0001182	Tapered finger	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	.	3
HP:0001182	HP:0001182	Tapered finger	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0001182	HP:0001182	Tapered finger	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.	7
HP:0001182	HP:0001182	Tapered finger	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0001182	HP:0001182	Tapered finger	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0001182	HP:0001182	Tapered finger	0	GATA2 CL E G H	2624	4171	OMIM:614038	Lymphedema, primary, with myelodysplasia	HP:0040283 - Occasional	137
HP:0001182	HP:0001182	Tapered finger	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent	87
HP:0001182	HP:0001182	Tapered finger	0	GJA1 CL E G H	2697	4274	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional	68
HP:0001182	HP:0001182	Tapered finger	0	GJB3 CL E G H	2707	4285	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional	74
HP:0001182	HP:0001182	Tapered finger	0	GJB4 CL E G H	127534	4286	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional	12
HP:0001182	HP:0001182	Tapered finger	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0001182	HP:0001182	Tapered finger	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0001182	HP:0001182	Tapered finger	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001182	HP:0001182	Tapered finger	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	5
HP:0001182	HP:0001182	Tapered finger	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001182	HP:0001182	Tapered finger	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001182	HP:0001182	Tapered finger	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0001182	HP:0001182	Tapered finger	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	37
HP:0001182	HP:0001182	Tapered finger	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001182	HP:0001182	Tapered finger	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43	.	13
HP:0001182	HP:0001182	Tapered finger	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.	98
HP:0001182	HP:0001182	Tapered finger	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.	25
HP:0001182	HP:0001182	Tapered finger	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040281 - Very frequent	18
HP:0001182	HP:0001182	Tapered finger	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	HP:0040283 - Occasional	4
HP:0001182	HP:0001182	Tapered finger	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0001182	HP:0001182	Tapered finger	0	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040282 - Frequent	5
HP:0001182	HP:0001182	Tapered finger	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features	.	3
HP:0001182	HP:0001182	Tapered finger	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0001182	HP:0001182	Tapered finger	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040283 - Occasional	81
HP:0001182	HP:0001182	Tapered finger	0	KDSR CL E G H	2531	4021	ORPHA:317	Erythrokeratodermia variabilis	HP:0040283 - Occasional	4
HP:0001182	HP:0001182	Tapered finger	0	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	276
HP:0001182	HP:0001182	Tapered finger	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	276
HP:0001182	HP:0001182	Tapered finger	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0001182	HP:0001182	Tapered finger	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome		167
HP:0001182	HP:0001182	Tapered finger	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0001182	HP:0001182	Tapered finger	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	HP:0040283 - Occasional	91
HP:0001182	HP:0001182	Tapered finger	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent	91
HP:0001182	HP:0001182	Tapered finger	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare	99
HP:0001182	HP:0001182	Tapered finger	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.	1
HP:0001182	HP:0001182	Tapered finger	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	8
HP:0001182	HP:0001182	Tapered finger	0	LAS1L CL E G H	81887	25726	OMIM:309585	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS		8
HP:0001182	HP:0001182	Tapered finger	0	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0001182	HP:0001182	Tapered finger	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0001182	HP:0001182	Tapered finger	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	HP:0040283 - Occasional	21
HP:0001182	HP:0001182	Tapered finger	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.	63
HP:0001182	HP:0001182	Tapered finger	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0001182	HP:0001182	Tapered finger	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0001182	HP:0001182	Tapered finger	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2	HP:0040283 - Occasional	4
HP:0001182	HP:0001182	Tapered finger	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0001182	HP:0001182	Tapered finger	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001182	HP:0001182	Tapered finger	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome	.	37
HP:0001182	HP:0001182	Tapered finger	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional	37
HP:0001182	HP:0001182	Tapered finger	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional	1
HP:0001182	HP:0001182	Tapered finger	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0001182	HP:0001182	Tapered finger	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent	4
HP:0001182	HP:0001182	Tapered finger	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	.	4
HP:0001182	HP:0001182	Tapered finger	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2	HP:0040283 - Occasional	3
HP:0001182	HP:0001182	Tapered finger	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0001182	HP:0001182	Tapered finger	0	PHF21A CL E G H	51317	24156	OMIM:618725	INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS		2
HP:0001182	HP:0001182	Tapered finger	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29
HP:0001182	HP:0001182	Tapered finger	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent	29
HP:0001182	HP:0001182	Tapered finger	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.	11
HP:0001182	HP:0001182	Tapered finger	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0001182	HP:0001182	Tapered finger	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0001182	HP:0001182	Tapered finger	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0001182	HP:0001182	Tapered finger	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040282 - Frequent	37
HP:0001182	HP:0001182	Tapered finger	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation	.	57
HP:0001182	HP:0001182	Tapered finger	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001182	HP:0001182	Tapered finger	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0001182	HP:0001182	Tapered finger	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0001182	HP:0001182	Tapered finger	0	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47	.	1
HP:0001182	HP:0001182	Tapered finger	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0001182	HP:0001182	Tapered finger	0	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	54
HP:0001182	HP:0001182	Tapered finger	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001182	HP:0001182	Tapered finger	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0001182	HP:0001182	Tapered finger	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0001182	HP:0001182	Tapered finger	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent	10
HP:0001182	HP:0001182	Tapered finger	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0001182	HP:0001182	Tapered finger	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040281 - Very frequent	65
HP:0001182	HP:0001182	Tapered finger	0	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers	HP:0040281 - Very frequent	65
HP:0001182	HP:0001182	Tapered finger	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040283 - Occasional	90
HP:0001182	HP:0001182	Tapered finger	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0001182	HP:0001182	Tapered finger	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0001182	HP:0001182	Tapered finger	0	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	318
HP:0001182	HP:0001182	Tapered finger	0	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0001182	HP:0001182	Tapered finger	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040283 - Occasional	40
HP:0001182	HP:0001182	Tapered finger	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0001182	HP:0001182	Tapered finger	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0001182	HP:0001182	Tapered finger	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB	.	14
HP:0001182	HP:0001182	Tapered finger	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.	24
HP:0001182	HP:0001182	Tapered finger	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	24
HP:0001182	HP:0001182	Tapered finger	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0001182	HP:0001182	Tapered finger	0	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome	.	6
HP:0001182	HP:0001182	Tapered finger	0	SMARCAD1 CL E G H	56916	18398	OMIM:181600	Huriez syndrome	.	6
HP:0001182	HP:0001182	Tapered finger	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0001182	HP:0001182	Tapered finger	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.	3
HP:0001182	HP:0001182	Tapered finger	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0001182	HP:0001182	Tapered finger	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0001182	HP:0001182	Tapered finger	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0001182	HP:0001182	Tapered finger	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0001182	HP:0001182	Tapered finger	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.	1
HP:0001182	HP:0001182	Tapered finger	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent	241
HP:0001182	HP:0001182	Tapered finger	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.	241
HP:0001182	HP:0001182	Tapered finger	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional	12
HP:0001182	HP:0001182	Tapered finger	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001182	HP:0001182	Tapered finger	0	TNNT3 CL E G H	7140	11950	OMIM:618435	Arthrogryposis, distal, type 2B2	.	43
HP:0001182	HP:0001182	Tapered finger	0	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4	.
HP:0001182	HP:0001182	Tapered finger	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent	158
HP:0001182	HP:0001182	Tapered finger	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0001182	HP:0001182	Tapered finger	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.	8
HP:0001182	HP:0001182	Tapered finger	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040282 - Frequent	8
HP:0001182	HP:0001182	Tapered finger	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	.	23
HP:0001182	HP:0001182	Tapered finger	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.	27
HP:0001182	HP:0001182	Tapered finger	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0001182	HP:0001182	Tapered finger	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0001182	HP:0001182	Tapered finger	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent	546
HP:0001182	HP:0001182	Tapered finger	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0001182	HP:0001182	Tapered finger	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0001182	HP:0001182	Tapered finger	0	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent	199
HP:0001182	HP:0001182	Tapered finger	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0001182	HP:0001182	Tapered finger	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001182	HP:0001182	Tapered finger	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	1
HP:0001182	HP:0001182	Tapered finger	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome		1

Genes (132) :ACSL4 ADAMTSL1 AIP AMMECR1 ARX ASXL1 ATRX BCORL1 BRF1 CCNK CDC42 CDC42BPB CDKL5 CHD4 CHST14 CNOT1 CNOT3 COL12A1 COPB1 CPT2 CRLF1 DDX6 DLX5 DOCK3 DPH5 DPYSL5 DSE DYRK1A EBF3 ECE1 EHMT1 EIF2S3 EXOC6B EXOSC5 FBXO11 FIG4 GATA2 GATA4 GJA1 GJB3 GJB4 GNAI1 GNB1 GNB2 GPR101 H3-3A H3-3B H4C5 HDAC8 HEATR3 HIVEP2 HUWE1 IARS2 INPPL1 IRX5 KATNB1 KCNE5 KDM1A KDM5C KDSR KIF1A KIF7 KIFBP KMT2A KMT2C KMT2E LAS1L LMNB2 MAF MAGEL2 MAP1B MAPK1 MAPRE2 MYMK MYOD1 NR2F1 ODC1 OFD1 OTUD6B PAX1 PCGF2 PHF21A PHF6 PHIP PIGA PIGB PIGN PIGV PRIM1 PRKAR1B PRR12 PUM1 RAB11B RETREG1 RNF13 RPL10 RPS6KA3 RUNX2 RUSC2 SCARF2 SCN9A SETD1B SIM1 SLC12A6 SLC25A12 SLC25A46 SLC39A13 SMARCA2 SMARCAD1 SMC1A SNIP1 SPEN SPOP SUPT16H SVBP TCF20 TCF4 TELO2 TFE3 TNNT3 TP53RK TRAPPC9 TRIO UNC80 USP9X VAC14 VPS13B WASF1 WNK1 ZMIZ1 ZMYM2 ZNHIT3

Diseases (145) :ORPHA:86818 ORPHA:521445 ORPHA:963 OMIM:300004 OMIM:605039 OMIM:301040 OMIM:309580 OMIM:301029 ORPHA:444072 OMIM:616202 OMIM:618147 ORPHA:487796 OMIM:616737 OMIM:619841 OMIM:300672 OMIM:617159 ORPHA:2953 OMIM:619033 OMIM:618672 ORPHA:536516 OMIM:619255 OMIM:608836 OMIM:272430 OMIM:618653 OMIM:220600 OMIM:618292 OMIM:620070 OMIM:619435 ORPHA:268261 ORPHA:464311 OMIM:617330 OMIM:613870 ORPHA:261652 ORPHA:85282 OMIM:618395 OMIM:619576 OMIM:618089 ORPHA:3472 OMIM:216340 OMIM:614038 ORPHA:251071 ORPHA:317 OMIM:619854 OMIM:616973 OMIM:619503 OMIM:619720 OMIM:619721 OMIM:619950 ORPHA:3459 OMIM:620072 OMIM:616977 OMIM:309590 OMIM:616007 ORPHA:2746 OMIM:611174 OMIM:616212 OMIM:616728 ORPHA:477993 ORPHA:85279 ORPHA:970 ORPHA:2836 OMIM:200990 OMIM:607131 OMIM:609460 OMIM:605130 ORPHA:319182 OMIM:618512 OMIM:309585 OMIM:619180 ORPHA:1272 OMIM:601088 OMIM:615547 OMIM:618918 OMIM:619087 OMIM:616734 OMIM:254940 OMIM:618975 OMIM:615722 ORPHA:401777 ORPHA:544488 OMIM:300209 ORPHA:505237 OMIM:617452 OMIM:615560 OMIM:618371 OMIM:618725 OMIM:301900 ORPHA:127 OMIM:617991 ORPHA:589905 OMIM:301072 OMIM:618580 ORPHA:280633 OMIM:239300 OMIM:620005 OMIM:619680 OMIM:619539 OMIM:617931 OMIM:617807 ORPHA:544503 OMIM:300998 ORPHA:459070 ORPHA:435938 OMIM:303600 ORPHA:192 ORPHA:276630 ORPHA:1452 OMIM:617773 OMIM:600920 OMIM:619000 ORPHA:171829 OMIM:218000 OMIM:612949 OMIM:616505 OMIM:612350 ORPHA:157965 OMIM:619293 OMIM:129200 OMIM:181600 OMIM:301044 OMIM:614501 OMIM:619312 OMIM:618829 OMIM:619480 OMIM:618569 OMIM:618430 ORPHA:2896 OMIM:610954 ORPHA:488642 OMIM:301066 OMIM:618435 OMIM:617730 ORPHA:352530 OMIM:618825 OMIM:617061 ORPHA:476126 OMIM:616801 OMIM:300968 ORPHA:480880 ORPHA:193 OMIM:216550 OMIM:618707 OMIM:618659 OMIM:619522 OMIM:260565

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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