Human Phenotype Ontology 
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Abnormality of finger (HP:0001167)help
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Long fingers (HP:0100807)help
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Slender finger (HP:0001238)help
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Arachnodactyly (HP:0001166)help
Term ID: 1166
Name: Arachnodactyly
Synonym: Long slender fingers; Long, slender fingers; Spider fingers
Definition: Abnormally long and slender fingers ("spider fingers").
Comments:
Reference: HP:0001166
Genes and Diseases:
 
       Child Nodes:

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InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001166HP:0001166Arachnodactyly0ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndromeHP:0040284 - Very rare51
HP:0001166HP:0001166Arachnodactyly0ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional94
HP:0001166HP:0001166Arachnodactyly0ACTG2 CL E G H72145ORPHA:2604Familial visceral myopathyHP:0040283 - Occasional23
HP:0001166HP:0001166Arachnodactyly0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0001166HP:0001166Arachnodactyly0ALG14 CL E G H19985728287OMIM:619036MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA12
HP:0001166HP:0001166Arachnodactyly0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0001166HP:0001166Arachnodactyly0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0001166HP:0001166Arachnodactyly0ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs4
HP:0001166HP:0001166Arachnodactyly0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040283 - Occasional49
HP:0001166HP:0001166Arachnodactyly0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0001166HP:0001166Arachnodactyly0ATP2B1 CL E G H490814OMIM:619910
HP:0001166HP:0001166Arachnodactyly0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent38
HP:0001166HP:0001166Arachnodactyly0B3GALT6 CL E G H12679217978ORPHA:2725Eye defects-arachnodactyly-cardiopathy syndromeHP:0040281 - Very frequent38
HP:0001166HP:0001166Arachnodactyly0B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent29
HP:0001166HP:0001166Arachnodactyly0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 1.29
HP:0001166HP:0001166Arachnodactyly0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional5
HP:0001166HP:0001166Arachnodactyly0BMP1 CL E G H6491067OMIM:614856Osteogenesis imperfecta, type XIIIHP:0040283 - Occasional49
HP:0001166HP:0001166Arachnodactyly0BMP15 CL E G H92101068ORPHA:24346,XX gonadal dysgenesisHP:0040284 - Very rare16
HP:0001166HP:0001166Arachnodactyly0BNC1 CL E G H6461081ORPHA:24346,XX gonadal dysgenesisHP:0040284 - Very rare
HP:0001166HP:0001166Arachnodactyly0C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 1HP:0040283 - Occasional15
HP:0001166HP:0001166Arachnodactyly0CBS CL E G H8751550ORPHA:394Classic homocystinuriaHP:0040281 - Very frequent242
HP:0001166HP:0001166Arachnodactyly0CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiency.242
HP:0001166HP:0001166Arachnodactyly0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0001166HP:0001166Arachnodactyly0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0001166HP:0001166Arachnodactyly0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0001166HP:0001166Arachnodactyly0CNTN1 CL E G H12722171OMIM:612540Myopathy, congenital, compton-north.40
HP:0001166HP:0001166Arachnodactyly0COL11A1 CL E G H13012186OMIM:604841Stickler syndrome, type II.215
HP:0001166HP:0001166Arachnodactyly0COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I.284
HP:0001166HP:0001166Arachnodactyly0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent6
HP:0001166HP:0001166Arachnodactyly0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent1
HP:0001166HP:0001166Arachnodactyly0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0001166HP:0001166Arachnodactyly0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0001166HP:0001166Arachnodactyly0CTSC CL E G H10752528OMIM:245010Haim-Munk syndrome.50
HP:0001166HP:0001166Arachnodactyly0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040283 - Occasional50
HP:0001166HP:0001166Arachnodactyly0CYP26B1 CL E G H5660320581OMIM:614416RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES; RHFCA4
HP:0001166HP:0001166Arachnodactyly0DLG4 CL E G H17422903OMIM:618793INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD622
HP:0001166HP:0001166Arachnodactyly0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0001166HP:0001166Arachnodactyly0DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 2.13
HP:0001166HP:0001166Arachnodactyly0EFEMP2 CL E G H300083219OMIM:614437Cutis laxa, autosomal recessive, type IB.45
HP:0001166HP:0001166Arachnodactyly0ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional172
HP:0001166HP:0001166Arachnodactyly0FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0001166HP:0001166Arachnodactyly0FBLN5 CL E G H105163602OMIM:219100Cutis laxa, autosomal recessive, type IA.63
HP:0001166HP:0001166Arachnodactyly0FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional1361
HP:0001166HP:0001166Arachnodactyly0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0001166HP:0001166Arachnodactyly0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0001166HP:0001166Arachnodactyly0FBN1 CL E G H22003603OMIM:604308MASS SYNDROME1361
HP:0001166HP:0001166Arachnodactyly0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndromeHP:0040281 - Very frequent1361
HP:0001166HP:0001166Arachnodactyly0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040281 - Very frequent1361
HP:0001166HP:0001166Arachnodactyly0FBN2 CL E G H22013604ORPHA:115Congenital contractural arachnodactylyHP:0040281 - Very frequent655
HP:0001166HP:0001166Arachnodactyly0FBN2 CL E G H22013604OMIM:121050Contractural arachnodactyly, congenital655
HP:0001166HP:0001166Arachnodactyly0FGFR2 CL E G H22633689OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.175
HP:0001166HP:0001166Arachnodactyly0FGFR3 CL E G H22613690OMIM:610474Camptodactyly, tall stature, and hearing loss syndrome.145
HP:0001166HP:0001166Arachnodactyly0FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia.493
HP:0001166HP:0001166Arachnodactyly0FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional23
HP:0001166HP:0001166Arachnodactyly0FSHR CL E G H24923969ORPHA:24346,XX gonadal dysgenesisHP:0040284 - Very rare50
HP:0001166HP:0001166Arachnodactyly0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent8
HP:0001166HP:0001166Arachnodactyly0H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001166HP:0001166Arachnodactyly0HERC1 CL E G H89254867OMIM:617011Macrocephaly, dysmorphic facies, and psychomotor retardation.16
HP:0001166HP:0001166Arachnodactyly0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040281 - Very frequent16
HP:0001166HP:0001166Arachnodactyly0HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional
HP:0001166HP:0001166Arachnodactyly0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent3
HP:0001166HP:0001166Arachnodactyly0HNRNPH1 CL E G H31875041OMIM:620083
HP:0001166HP:0001166Arachnodactyly0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0001166HP:0001166Arachnodactyly0IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent
HP:0001166HP:0001166Arachnodactyly0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0001166HP:0001166Arachnodactyly0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent2
HP:0001166HP:0001166Arachnodactyly0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0001166HP:0001166Arachnodactyly0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0001166HP:0001166Arachnodactyly0LAGE3 CL E G H827026058OMIM:301006Galloway-Mowat syndrome 2, X-linked.
HP:0001166HP:0001166Arachnodactyly0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0001166HP:0001166Arachnodactyly0LOX CL E G H40156664ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional6
HP:0001166HP:0001166Arachnodactyly0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0001166HP:0001166Arachnodactyly0MAT2A CL E G H41446904ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional13
HP:0001166HP:0001166Arachnodactyly0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome.228
HP:0001166HP:0001166Arachnodactyly0MED12 CL E G H996811957ORPHA:776Lujan-Fryns syndromeHP:0040282 - Frequent228
HP:0001166HP:0001166Arachnodactyly0MFAP5 CL E G H807629673OMIM:616166AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT911
HP:0001166HP:0001166Arachnodactyly0MFAP5 CL E G H807629673ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional11
HP:0001166HP:0001166Arachnodactyly0MRPS22 CL E G H5694514508ORPHA:24346,XX gonadal dysgenesisHP:0040284 - Very rare25
HP:0001166HP:0001166Arachnodactyly0MTM1 CL E G H45347448OMIM:310400Myopathy, centronuclear, X-linked.185
HP:0001166HP:0001166Arachnodactyly0MYH11 CL E G H46297569ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional418
HP:0001166HP:0001166Arachnodactyly0MYLK CL E G H46387590ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional326
HP:0001166HP:0001166Arachnodactyly0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent48
HP:0001166HP:0001166Arachnodactyly0NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0001166HP:0001166Arachnodactyly0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent
HP:0001166HP:0001166Arachnodactyly0NKAP CL E G H7957629873OMIM:301039INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001166HP:0001166Arachnodactyly0NPR2 CL E G H48827944OMIM:615923Epiphyseal chondrodysplasia, Miura type.53
HP:0001166HP:0001166Arachnodactyly0NPR3 CL E G H48837945OMIM:619543BOUDIN-MORTIER SYNDROME; BOMOS
HP:0001166HP:0001166Arachnodactyly0NR5A1 CL E G H25167983ORPHA:24346,XX gonadal dysgenesisHP:0040284 - Very rare38
HP:0001166HP:0001166Arachnodactyly0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent118
HP:0001166HP:0001166Arachnodactyly0NUP107 CL E G H5712229914ORPHA:24346,XX gonadal dysgenesisHP:0040284 - Very rare5
HP:0001166HP:0001166Arachnodactyly0NUP107 CL E G H5712229914OMIM:618348Galloway-Mowat syndrome 7.5
HP:0001166HP:0001166Arachnodactyly0NUP107 CL E G H5712229914OMIM:616730Nephrotic syndrome, type 11.5
HP:0001166HP:0001166Arachnodactyly0OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3.
HP:0001166HP:0001166Arachnodactyly0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040283 - Occasional4
HP:0001166HP:0001166Arachnodactyly0PAPPA2 CL E G H6067614615OMIM:619489SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA2
HP:0001166HP:0001166Arachnodactyly0PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040282 - Frequent66
HP:0001166HP:0001166Arachnodactyly0PHF8 CL E G H2313320672OMIM:300263Siderius X-linked mental retardation syndrome23
HP:0001166HP:0001166Arachnodactyly0PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 5.77
HP:0001166HP:0001166Arachnodactyly0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0001166HP:0001166Arachnodactyly0PIEZO2 CL E G H6389526270ORPHA:1154Arthrogryposis-oculomotor limitation-electroretinal anomalies syndromeHP:0040282 - Frequent77
HP:0001166HP:0001166Arachnodactyly0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040281 - Very frequent77
HP:0001166HP:0001166Arachnodactyly0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0001166HP:0001166Arachnodactyly0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent7
HP:0001166HP:0001166Arachnodactyly0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1.105
HP:0001166HP:0001166Arachnodactyly0POLR3H CL E G H17156830349ORPHA:24346,XX gonadal dysgenesisHP:0040284 - Very rare
HP:0001166HP:0001166Arachnodactyly0POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis.76
HP:0001166HP:0001166Arachnodactyly0POR CL E G H54479208OMIM:207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.76
HP:0001166HP:0001166Arachnodactyly0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0001166HP:0001166Arachnodactyly0PQBP1 CL E G H100849330ORPHA:93946Hamel cerebro-palato-cardiac syndromeHP:0040281 - Very frequent28
HP:0001166HP:0001166Arachnodactyly0PRDM5 CL E G H111079349ORPHA:90354Brittle cornea syndromeHP:0040283 - Occasional58
HP:0001166HP:0001166Arachnodactyly0PRKG1 CL E G H55929414ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional41
HP:0001166HP:0001166Arachnodactyly0PSMC3IP CL E G H2989317928ORPHA:24346,XX gonadal dysgenesisHP:0040284 - Very rare2
HP:0001166HP:0001166Arachnodactyly0PTCH1 CL E G H57279585ORPHA:377Gorlin syndromeHP:0040283 - Occasional665
HP:0001166HP:0001166Arachnodactyly0PTCH2 CL E G H86439586ORPHA:377Gorlin syndromeHP:0040283 - Occasional40
HP:0001166HP:0001166Arachnodactyly0PYCR2 CL E G H2992030262OMIM:616420Leukodystrophy, hypomyelinating, 10.11
HP:0001166HP:0001166Arachnodactyly0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040283 - Occasional11
HP:0001166HP:0001166Arachnodactyly0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0001166HP:0001166Arachnodactyly0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040283 - Occasional34
HP:0001166HP:0001166Arachnodactyly0SATB2 CL E G H2331421637OMIM:612313Glass syndrome.34
HP:0001166HP:0001166Arachnodactyly0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome.11
HP:0001166HP:0001166Arachnodactyly0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0001166HP:0001166Arachnodactyly0SH2B1 CL E G H2597030417ORPHA:261222Distal 16p11.2 microdeletion syndromeHP:0040281 - Very frequent
HP:0001166HP:0001166Arachnodactyly0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0001166HP:0001166Arachnodactyly0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome150
HP:0001166HP:0001166Arachnodactyly0SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndromeHP:0040281 - Very frequent150
HP:0001166HP:0001166Arachnodactyly0SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome.178
HP:0001166HP:0001166Arachnodactyly0SLC2A10 CL E G H8103113444ORPHA:3342Arterial tortuosity syndromeHP:0040283 - Occasional178
HP:0001166HP:0001166Arachnodactyly0SMAD2 CL E G H40876768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional7
HP:0001166HP:0001166Arachnodactyly0SMAD2 CL E G H40876768OMIM:619656LOEYS-DIETZ SYNDROME 6; LDS67
HP:0001166HP:0001166Arachnodactyly0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndromeHP:0040282 - Frequent260
HP:0001166HP:0001166Arachnodactyly0SMAD3 CL E G H40886769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional260
HP:0001166HP:0001166Arachnodactyly0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0001166HP:0001166Arachnodactyly0SMAD4 CL E G H40896770ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional504
HP:0001166HP:0001166Arachnodactyly0SMARCE1 CL E G H660511109OMIM:616938Coffin-Siris syndrome 5.47
HP:0001166HP:0001166Arachnodactyly0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040282 - Frequent19
HP:0001166HP:0001166Arachnodactyly0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0001166HP:0001166Arachnodactyly0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0001166HP:0001166Arachnodactyly0SPIDR CL E G H2351428971ORPHA:24346,XX gonadal dysgenesisHP:0040284 - Very rare2
HP:0001166HP:0001166Arachnodactyly0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040282 - Frequent14
HP:0001166HP:0001166Arachnodactyly0SUFU CL E G H5168416466ORPHA:377Gorlin syndromeHP:0040283 - Occasional124
HP:0001166HP:0001166Arachnodactyly0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent32
HP:0001166HP:0001166Arachnodactyly0TGFB2 CL E G H704211768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional162
HP:0001166HP:0001166Arachnodactyly0TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0001166HP:0001166Arachnodactyly0TGFB3 CL E G H704311769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional85
HP:0001166HP:0001166Arachnodactyly0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0001166HP:0001166Arachnodactyly0TGFBR1 CL E G H704611772ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional239
HP:0001166HP:0001166Arachnodactyly0TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent239
HP:0001166HP:0001166Arachnodactyly0TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0001166HP:0001166Arachnodactyly0TGFBR2 CL E G H704811773ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional253
HP:0001166HP:0001166Arachnodactyly0TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndromeHP:0040282 - Frequent253
HP:0001166HP:0001166Arachnodactyly0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0001166HP:0001166Arachnodactyly0UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman typeHP:0040281 - Very frequent13
HP:0001166HP:0001166Arachnodactyly0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0001166HP:0001166Arachnodactyly0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent23
HP:0001166HP:0001166Arachnodactyly0UPF3B CL E G H6510920439ORPHA:776Lujan-Fryns syndromeHP:0040282 - Frequent33
HP:0001166HP:0001166Arachnodactyly0VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040281 - Very frequent546
HP:0001166HP:0001166Arachnodactyly0XYLT2 CL E G H6413215517OMIM:605822Spondyloocular syndrome5
HP:0001166HP:0001166Arachnodactyly0YRDC CL E G H7969328905OMIM:619609GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0001166HP:0001166Arachnodactyly0ZDHHC9 CL E G H5111418475ORPHA:776Lujan-Fryns syndromeHP:0040282 - Frequent10
HP:0001166HP:0001166Arachnodactyly0ZDHHC9 CL E G H5111418475OMIM:300799Mental retardation, x-linked syndromic, Raymond type.10
HP:0001166HP:0001166Arachnodactyly0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0001166HP:0001166Arachnodactyly0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362
HP:0001166HP:0001166Arachnodactyly0ZNF469 CL E G H8462723216ORPHA:90354Brittle cornea syndromeHP:0040283 - Occasional397
HP:0001166HP:0001166Arachnodactyly0ZSWIM7 CL E G H12515026993ORPHA:24346,XX gonadal dysgenesisHP:0040284 - Very rare


Genes (125) :ABL1 ACTA2 ACTG2 AEBP1 ALG14 AMER1 ARVCF ASPH ASXL3 ATP2B1 B3GALT6 B4GALT7 BCR BMP1 BMP15 BNC1 C1R CBS CHRNG CHST14 CIC CNTN1 COL11A1 COL2A1 COMT CPLX1 CRKL CTBP1 CTSC CYP26B1 DLG4 DPAGT1 DSE EFEMP2 ELN FARSA FBLN5 FBN1 FBN2 FGFR2 FGFR3 FLNA FOXE3 FSHR GP1BB H3-3B HERC1 HEY2 HIRA HNRNPH1 HNRNPH2 IPO8 JMJD1C KANSL1 LAGE3 LETM1 LOX MAPK1 MAT2A MED12 MFAP5 MRPS22 MTM1 MYH11 MYLK NALCN NARS1 NELFA NKAP NPR2 NPR3 NR5A1 NSD2 NUP107 OSGEP OTUD6B PAPPA2 PEPD PHF8 PIEZO2 PIGG PLOD1 POLR3H POR PQBP1 PRDM5 PRKG1 PSMC3IP PTCH1 PTCH2 PYCR2 RREB1 SATB2 SCARF2 SEC24C SH2B1 SIN3A SKI SLC2A10 SMAD2 SMAD3 SMAD4 SMARCE1 SMS SON SOX6 SPIDR STUB1 SUFU TBX1 TGFB2 TGFB3 TGFBR1 TGFBR2 UBE3B UFD1 UNC80 UPF3B VPS13B XYLT2 YRDC ZDHHC9 ZEB2 ZNF469 ZSWIM7

Diseases (113) :OMIM:617602 ORPHA:91387 ORPHA:2604 ORPHA:536532 OMIM:619036 OMIM:300373 ORPHA:567 OMIM:601552 ORPHA:352577 OMIM:615485 OMIM:619910 ORPHA:536467 ORPHA:2725 ORPHA:75496 OMIM:130070 ORPHA:261330 OMIM:614856 ORPHA:243 OMIM:130080 ORPHA:394 OMIM:236200 OMIM:265000 OMIM:601776 OMIM:617600 OMIM:612540 OMIM:604841 OMIM:108300 ORPHA:280 OMIM:245010 ORPHA:678 OMIM:614416 OMIM:618793 ORPHA:86309 OMIM:615539 OMIM:614437 OMIM:619013 OMIM:219100 OMIM:616914 OMIM:154700 OMIM:604308 ORPHA:284979 ORPHA:2462 ORPHA:115 OMIM:121050 OMIM:207410 OMIM:610474 OMIM:305620 OMIM:619721 OMIM:617011 ORPHA:457359 OMIM:620083 OMIM:300986 ORPHA:60030 OMIM:619472 ORPHA:363958 ORPHA:363965 OMIM:301006 OMIM:309520 ORPHA:776 OMIM:616166 OMIM:310400 ORPHA:371364 OMIM:619092 OMIM:301039 OMIM:615923 OMIM:619543 OMIM:618348 OMIM:616730 OMIM:617729 ORPHA:505237 OMIM:619489 ORPHA:742 OMIM:300263 OMIM:108145 OMIM:617146 ORPHA:1154 ORPHA:2461 OMIM:248700 OMIM:225400 OMIM:201750 ORPHA:95699 ORPHA:93946 ORPHA:90354 ORPHA:377 OMIM:616420 ORPHA:481152 ORPHA:251019 OMIM:612313 OMIM:600920 ORPHA:261222 OMIM:613406 OMIM:182212 OMIM:208050 ORPHA:3342 OMIM:619656 ORPHA:284984 OMIM:613795 OMIM:616938 ORPHA:3063 ORPHA:500150 OMIM:618971 ORPHA:412057 OMIM:614816 OMIM:615582 OMIM:609192 OMIM:610168 ORPHA:2707 ORPHA:193 OMIM:605822 OMIM:619609 OMIM:300799 ORPHA:261552 ORPHA:261537
 

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