Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the lower limb (HP:0002814)help
Parent Node:
expand
Abnormal foot morphology (HP:0001760)help
..Starting node
..expand
Pes planus (HP:0001763)help
Term ID: 1763
Name: Pes planus
Synonym: Dropped arches; Fallen arches; Flat feet; Flat foot
Definition: A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Comments:
Reference: HP:0001763
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal foot bone ossification (HP:0010675) help
..expandAbnormal metatarsal morphology (HP:0001832) help
..expandAbnormality of dorsoventral patterning of the limbs (HP:0100270) help
..expandAbnormality of the Achilles tendon (HP:0005109) help
..expandAbnormality of the plantar skin of foot (HP:0100872) help
..expandAbnormality of the tarsal bones (HP:0001850) help
..expandAbnormality of toe (HP:0001780) help
..expandAnkylosis of feet small joints (HP:0008090) help
..expandAplasia/Hypoplasia involving bones of the feet (HP:0006494) help
..expandAutoamputation of foot (HP:0001868) help
..expandBroad foot (HP:0001769) help
..expandDuplication involving bones of the feet (HP:0009136) help
..expandEquinovarus deformity (HP:0008110) help
..expandFoot asymmetry (HP:0010507) help
..expandFoot joint contracture (HP:0008366) help
..expandFoot osteomyelitis (HP:0001886) help
..expandLong foot (HP:0001833) help
..expandMedial deviation of the foot (HP:0008082) help
..expandMedial rotation of the medial malleolus (HP:0008132) help
..expandNarrow foot (HP:0001786) help
..expandOsteolysis involving bones of the feet (HP:0009134) help
..expandPes cavus (HP:0001761) help
..expandPes valgus (HP:0008081) help
..expandPodagra (HP:0001854) help
..expandPositional foot deformity (HP:0005656) help
..expandSplit foot (HP:0001839) help
..expandStructural foot deformity (HP:0010219) help
..expandSynostosis involving bones of the feet (HP:0009140) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001763HP:0001763Pes planus0ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndrome.51
HP:0001763HP:0001763Pes planus0ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional94
HP:0001763HP:0001763Pes planus0ADGRV1 CL E G H8405917416ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare530
HP:0001763HP:0001763Pes planus0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040281 - Very frequent
HP:0001763HP:0001763Pes planus0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2.
HP:0001763HP:0001763Pes planus0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0001763HP:0001763Pes planus0AGA CL E G H175318ORPHA:93AspartylglucosaminuriaHP:0040283 - Occasional76
HP:0001763HP:0001763Pes planus0AHCY CL E G H191343ORPHA:88618S-adenosylhomocysteine hydrolase deficiencyHP:0040283 - Occasional31
HP:0001763HP:0001763Pes planus0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0001763HP:0001763Pes planus0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent12
HP:0001763HP:0001763Pes planus0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent46
HP:0001763HP:0001763Pes planus0ALG2 CL E G H8536523159OMIM:616228Myasthenic syndrome, congenital, 14HP:0040283 - Occasional46
HP:0001763HP:0001763Pes planus0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040282 - Frequent404
HP:0001763HP:0001763Pes planus0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0001763HP:0001763Pes planus0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis.2
HP:0001763HP:0001763Pes planus0ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040283 - Occasional65
HP:0001763HP:0001763Pes planus0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0001763HP:0001763Pes planus0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional49
HP:0001763HP:0001763Pes planus0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessiveHP:0040283 - Occasional49
HP:0001763HP:0001763Pes planus0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional48
HP:0001763HP:0001763Pes planus0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional41
HP:0001763HP:0001763Pes planus0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040283 - Occasional18
HP:0001763HP:0001763Pes planus0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040283 - Occasional1
HP:0001763HP:0001763Pes planus0ARX CL E G H17030218060OMIM:300419Mental retardation, X-linked, with or without seizures, arx-related166
HP:0001763HP:0001763Pes planus0ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs4
HP:0001763HP:0001763Pes planus0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040283 - Occasional49
HP:0001763HP:0001763Pes planus0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0001763HP:0001763Pes planus0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhood239
HP:0001763HP:0001763Pes planus0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhood150
HP:0001763HP:0001763Pes planus0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040283 - Occasional36
HP:0001763HP:0001763Pes planus0ATP6V0A2 CL E G H2354518481OMIM:219200Cutis laxa, autosomal recessive, type IIA.140
HP:0001763HP:0001763Pes planus0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0001763HP:0001763Pes planus0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040281 - Very frequent140
HP:0001763HP:0001763Pes planus0ATP6V1B2 CL E G H526854ORPHA:79499Autosomal dominant deafness-onychodystrophy syndromeHP:0040283 - Occasional5
HP:0001763HP:0001763Pes planus0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional5
HP:0001763HP:0001763Pes planus0ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC.2
HP:0001763HP:0001763Pes planus0ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040283 - Occasional192
HP:0001763HP:0001763Pes planus0ATP7A CL E G H538869OMIM:304150Occipital horn syndrome.192
HP:0001763HP:0001763Pes planus0ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0001763HP:0001763Pes planus0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0001763HP:0001763Pes planus0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0001763HP:0001763Pes planus0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0001763HP:0001763Pes planus0B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent29
HP:0001763HP:0001763Pes planus0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 1.29
HP:0001763HP:0001763Pes planus0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001763HP:0001763Pes planus0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001763HP:0001763Pes planus0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent5
HP:0001763HP:0001763Pes planus0BGN CL E G H6331044OMIM:300989Meester-Loeys syndromeHP:0040283 - Occasional7
HP:0001763HP:0001763Pes planus0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0001763HP:0001763Pes planus0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0001763HP:0001763Pes planus0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0001763HP:0001763Pes planus0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0001763HP:0001763Pes planus0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0001763HP:0001763Pes planus0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0001763HP:0001763Pes planus0BRWD3 CL E G H25406517342OMIM:300659MENTAL RETARDATION, X-LINKED 93; MRX93104
HP:0001763HP:0001763Pes planus0BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17HP:0040283 - Occasional105
HP:0001763HP:0001763Pes planus0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001763HP:0001763Pes planus0C12ORF57 CL E G H11324629521OMIM:218340Temtamy syndrome.13
HP:0001763HP:0001763Pes planus0C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndromeHP:0040282 - Frequent13
HP:0001763HP:0001763Pes planus0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhood449
HP:0001763HP:0001763Pes planus0CACNA1C CL E G H7751390OMIM:620029572
HP:0001763HP:0001763Pes planus0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0001763HP:0001763Pes planus0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0001763HP:0001763Pes planus0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040283 - Occasional
HP:0001763HP:0001763Pes planus0CCNK CL E G H88121596OMIM:618147Intellectual developmental disorder with hypertelorism and distinctive facies.3
HP:0001763HP:0001763Pes planus0CDC42BPB CL E G H95781738OMIM:619841
HP:0001763HP:0001763Pes planus0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome.2
HP:0001763HP:0001763Pes planus0CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5HP:0040283 - Occasional146
HP:0001763HP:0001763Pes planus0CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0001763HP:0001763Pes planus0CHCHD10 CL E G H40091615559OMIM:615048Spinal muscular atrophy, Jokela type.11
HP:0001763HP:0001763Pes planus0CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040283 - Occasional515
HP:0001763HP:0001763Pes planus0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0001763HP:0001763Pes planus0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0001763HP:0001763Pes planus0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0001763HP:0001763Pes planus0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0001763HP:0001763Pes planus0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040284 - Very rare45
HP:0001763HP:0001763Pes planus0CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0001763HP:0001763Pes planus0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001763HP:0001763Pes planus0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0001763HP:0001763Pes planus0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040283 - Occasional65
HP:0001763HP:0001763Pes planus0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional373
HP:0001763HP:0001763Pes planus0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040282 - Frequent243
HP:0001763HP:0001763Pes planus0COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2.243
HP:0001763HP:0001763Pes planus0COL1A2 CL E G H12782198OMIM:225320Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form.243
HP:0001763HP:0001763Pes planus0COL2A1 CL E G H12802200OMIM:184250Spondyloepimetaphyseal dysplasia, Strudwick type.284
HP:0001763HP:0001763Pes planus0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional660
HP:0001763HP:0001763Pes planus0COL5A1 CL E G H12892209OMIM:130000Ehlers-danlos syndrome, type I.660
HP:0001763HP:0001763Pes planus0COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0001763HP:0001763Pes planus0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional325
HP:0001763HP:0001763Pes planus0COL9A3 CL E G H12992219OMIM:620022137
HP:0001763HP:0001763Pes planus0COMP CL E G H13112227OMIM:132400Epiphyseal dysplasia, multiple, 189
HP:0001763HP:0001763Pes planus0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0001763HP:0001763Pes planus0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0001763HP:0001763Pes planus0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0001763HP:0001763Pes planus0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1.24
HP:0001763HP:0001763Pes planus0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001763HP:0001763Pes planus0CTSC CL E G H10752528OMIM:245010Haim-Munk syndrome.50
HP:0001763HP:0001763Pes planus0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0001763HP:0001763Pes planus0CUL7 CL E G H982021024OMIM:2737503-M syndrome 1.127
HP:0001763HP:0001763Pes planus0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040283 - Occasional4
HP:0001763HP:0001763Pes planus0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent2
HP:0001763HP:0001763Pes planus0DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040283 - Occasional36
HP:0001763HP:0001763Pes planus0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent33
HP:0001763HP:0001763Pes planus0DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language.4
HP:0001763HP:0001763Pes planus0DLG4 CL E G H17422903OMIM:618793INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD622
HP:0001763HP:0001763Pes planus0DMD CL E G H17562928ORPHA:98895Becker muscular dystrophyHP:0040283 - Occasional1496
HP:0001763HP:0001763Pes planus0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001763HP:0001763Pes planus0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent38
HP:0001763HP:0001763Pes planus0DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndromeHP:0040282 - Frequent3
HP:0001763HP:0001763Pes planus0DPH5 CL E G H5161124270OMIM:620070
HP:0001763HP:0001763Pes planus0DPM3 CL E G H543443007ORPHA:263494DPM3-CDGHP:0040282 - Frequent9
HP:0001763HP:0001763Pes planus0DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0001763HP:0001763Pes planus0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0001763HP:0001763Pes planus0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0001763HP:0001763Pes planus0EIF3F CL E G H86653275OMIM:618295Intellectual developmental disorder, autosomal recessive 67
HP:0001763HP:0001763Pes planus0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001763HP:0001763Pes planus0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0001763HP:0001763Pes planus0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0001763HP:0001763Pes planus0ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional172
HP:0001763HP:0001763Pes planus0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0001763HP:0001763Pes planus0EMILIN1 CL E G H1111719880OMIM:6200802
HP:0001763HP:0001763Pes planus0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0001763HP:0001763Pes planus0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0001763HP:0001763Pes planus0EXOC6B CL E G H2323317085OMIM:618395Spondyloepimetaphyseal dysplasia with joint laxity, type 3.3
HP:0001763HP:0001763Pes planus0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0001763HP:0001763Pes planus0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0001763HP:0001763Pes planus0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0001763HP:0001763Pes planus0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0001763HP:0001763Pes planus0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0001763HP:0001763Pes planus0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0001763HP:0001763Pes planus0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0001763HP:0001763Pes planus0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0001763HP:0001763Pes planus0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0001763HP:0001763Pes planus0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0001763HP:0001763Pes planus0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0001763HP:0001763Pes planus0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0001763HP:0001763Pes planus0FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional1361
HP:0001763HP:0001763Pes planus0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0001763HP:0001763Pes planus0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0001763HP:0001763Pes planus0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040281 - Very frequent1361
HP:0001763HP:0001763Pes planus0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.7
HP:0001763HP:0001763Pes planus0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040283 - Occasional2
HP:0001763HP:0001763Pes planus0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0001763HP:0001763Pes planus0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040283 - Occasional62
HP:0001763HP:0001763Pes planus0FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040283 - Occasional3
HP:0001763HP:0001763Pes planus0FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040283 - Occasional17
HP:0001763HP:0001763Pes planus0FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040283 - Occasional172
HP:0001763HP:0001763Pes planus0FIBP CL E G H91583705OMIM:617107Thauvin-Robinet-Faivre syndromeHP:0040283 - Occasional2
HP:0001763HP:0001763Pes planus0FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 2.13
HP:0001763HP:0001763Pes planus0FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiencyHP:0040281 - Very frequent13
HP:0001763HP:0001763Pes planus0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001763HP:0001763Pes planus0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040282 - Frequent8
HP:0001763HP:0001763Pes planus0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent
HP:0001763HP:0001763Pes planus0FLNA CL E G H23163754ORPHA:555877FLNA-related X-linked myxomatous valvular dysplasia493
HP:0001763HP:0001763Pes planus0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0001763HP:0001763Pes planus0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0001763HP:0001763Pes planus0FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0001763HP:0001763Pes planus0FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome.30
HP:0001763HP:0001763Pes planus0FMR1 CL E G H23323775ORPHA:908Fragile X syndromeHP:0040281 - Very frequent30
HP:0001763HP:0001763Pes planus0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040284 - Very rare30
HP:0001763HP:0001763Pes planus0FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional23
HP:0001763HP:0001763Pes planus0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant.177
HP:0001763HP:0001763Pes planus0GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040283 - Occasional134
HP:0001763HP:0001763Pes planus0GABRD CL E G H25634084ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare10
HP:0001763HP:0001763Pes planus0GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040283 - Occasional139
HP:0001763HP:0001763Pes planus0GABRG2 CL E G H25664087ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare139
HP:0001763HP:0001763Pes planus0GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive.121
HP:0001763HP:0001763Pes planus0GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VAHP:0040283 - Occasional
HP:0001763HP:0001763Pes planus0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndromeHP:0040283 - Occasional87
HP:0001763HP:0001763Pes planus0GDF11 CL E G H102204216OMIM:619122VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0001763HP:0001763Pes planus0GDF5 CL E G H82004220OMIM:615298SYMPHALANGISM, PROXIMAL, 1B; SYM1B52
HP:0001763HP:0001763Pes planus0GDF6 CL E G H3922554221OMIM:617898Multiple synostoses syndrome 4.64
HP:0001763HP:0001763Pes planus0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent128
HP:0001763HP:0001763Pes planus0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0001763HP:0001763Pes planus0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0001763HP:0001763Pes planus0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent34
HP:0001763HP:0001763Pes planus0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0001763HP:0001763Pes planus0GORAB CL E G H9234425676ORPHA:2078Geroderma osteodysplasticaHP:0040283 - Occasional52
HP:0001763HP:0001763Pes planus0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0001763HP:0001763Pes planus0GRIN2B CL E G H29044586OMIM:613970Mental retardation, autosomal dominant 6, with or without seizures274
HP:0001763HP:0001763Pes planus0GRIN2D CL E G H29064588OMIM:617162Epileptic encephalopathy, early infantile, 46.2
HP:0001763HP:0001763Pes planus0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001763HP:0001763Pes planus0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001763HP:0001763Pes planus0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001763HP:0001763Pes planus0H3-3B CL E G H30214765OMIM:619721BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001763HP:0001763Pes planus0H4C11 CL E G H83634785OMIM:619759TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0001763HP:0001763Pes planus0H4C5 CL E G H83674790OMIM:619950
HP:0001763HP:0001763Pes planus0HCN1 CL E G H3489804845ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare54
HP:0001763HP:0001763Pes planus0HDAC8 CL E G H5586913315ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent37
HP:0001763HP:0001763Pes planus0HEATR3 CL E G H5502726087OMIM:620072
HP:0001763HP:0001763Pes planus0HERC1 CL E G H89254867OMIM:617011Macrocephaly, dysmorphic facies, and psychomotor retardation.16
HP:0001763HP:0001763Pes planus0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040283 - Occasional16
HP:0001763HP:0001763Pes planus0HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040283 - Occasional21
HP:0001763HP:0001763Pes planus0HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional
HP:0001763HP:0001763Pes planus0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0001763HP:0001763Pes planus0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0001763HP:0001763Pes planus0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0001763HP:0001763Pes planus0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0001763HP:0001763Pes planus0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0001763HP:0001763Pes planus0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040283 - Occasional8
HP:0001763HP:0001763Pes planus0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040281 - Very frequent345
HP:0001763HP:0001763Pes planus0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0001763HP:0001763Pes planus0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0001763HP:0001763Pes planus0IFITM5 CL E G H38773316644OMIM:610967Osteogenesis imperfecta, type V8
HP:0001763HP:0001763Pes planus0IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040283 - Occasional9
HP:0001763HP:0001763Pes planus0IPO8 CL E G H105269853ORPHA:60030Loeys-Dietz syndromeHP:0040281 - Very frequent
HP:0001763HP:0001763Pes planus0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0001763HP:0001763Pes planus0IQSEC2 CL E G H2309629059ORPHA:217377Microduplication Xp11.22p11.23 syndromeHP:0040282 - Frequent119
HP:0001763HP:0001763Pes planus0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent119
HP:0001763HP:0001763Pes planus0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040282 - Frequent283
HP:0001763HP:0001763Pes planus0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040282 - Frequent283
HP:0001763HP:0001763Pes planus0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0001763HP:0001763Pes planus0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional13
HP:0001763HP:0001763Pes planus0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional7
HP:0001763HP:0001763Pes planus0KDELR2 CL E G H110146305OMIM:619131OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0001763HP:0001763Pes planus0LAS1L CL E G H8188725726ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent8
HP:0001763HP:0001763Pes planus0LAS1L CL E G H8188725726OMIM:309585WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS8
HP:0001763HP:0001763Pes planus0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001763HP:0001763Pes planus0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0001763HP:0001763Pes planus0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0001763HP:0001763Pes planus0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040282 - Frequent165
HP:0001763HP:0001763Pes planus0LOX CL E G H40156664ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional6
HP:0001763HP:0001763Pes planus0MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndromeHP:0040283 - Occasional5
HP:0001763HP:0001763Pes planus0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0001763HP:0001763Pes planus0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0001763HP:0001763Pes planus0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0001763HP:0001763Pes planus0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 2HP:0040283 - Occasional4
HP:0001763HP:0001763Pes planus0MAT2A CL E G H41446904ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional13
HP:0001763HP:0001763Pes planus0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040282 - Frequent228
HP:0001763HP:0001763Pes planus0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0001763HP:0001763Pes planus0METTL23 CL E G H12451226988OMIM:615942Mental retardation, autosomal recessive 44HP:0040283 - Occasional13
HP:0001763HP:0001763Pes planus0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001763HP:0001763Pes planus0MFAP5 CL E G H807629673ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional11
HP:0001763HP:0001763Pes planus0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0001763HP:0001763Pes planus0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001763HP:0001763Pes planus0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy.64
HP:0001763HP:0001763Pes planus0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0001763HP:0001763Pes planus0MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0001763HP:0001763Pes planus0MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2134
HP:0001763HP:0001763Pes planus0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040283 - Occasional68
HP:0001763HP:0001763Pes planus0MYH11 CL E G H46297569ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional418
HP:0001763HP:0001763Pes planus0MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathyHP:0040283 - Occasional1269
HP:0001763HP:0001763Pes planus0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040283 - Occasional1269
HP:0001763HP:0001763Pes planus0MYLK CL E G H46387590ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional326
HP:0001763HP:0001763Pes planus0MYPN CL E G H8466523246ORPHA:171881Cap myopathyHP:0040283 - Occasional217
HP:0001763HP:0001763Pes planus0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001763HP:0001763Pes planus0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0001763HP:0001763Pes planus0NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040283 - Occasional
HP:0001763HP:0001763Pes planus0NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4D82
HP:0001763HP:0001763Pes planus0NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 4627
HP:0001763HP:0001763Pes planus0NDUFAF6 CL E G H13768228625OMIM:618239Mitochondrial complex I deficiency, nuclear type 17.39
HP:0001763HP:0001763Pes planus0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040282 - Frequent10
HP:0001763HP:0001763Pes planus0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0001763HP:0001763Pes planus0NPR3 CL E G H48837945OMIM:619543BOUDIN-MORTIER SYNDROME; BOMOS
HP:0001763HP:0001763Pes planus0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040283 - Occasional544
HP:0001763HP:0001763Pes planus0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0001763HP:0001763Pes planus0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040283 - Occasional24
HP:0001763HP:0001763Pes planus0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome24
HP:0001763HP:0001763Pes planus0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0001763HP:0001763Pes planus0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040283 - Occasional225
HP:0001763HP:0001763Pes planus0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040283 - Occasional113
HP:0001763HP:0001763Pes planus0PEX6 CL E G H51908859OMIM:616617Heimler syndrome 2.98
HP:0001763HP:0001763Pes planus0PHF8 CL E G H2313320672OMIM:300263Siderius X-linked mental retardation syndrome23
HP:0001763HP:0001763Pes planus0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0001763HP:0001763Pes planus0PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndromeHP:0040283 - Occasional7
HP:0001763HP:0001763Pes planus0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1.105
HP:0001763HP:0001763Pes planus0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040284 - Very rare105
HP:0001763HP:0001763Pes planus0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040282 - Frequent150
HP:0001763HP:0001763Pes planus0PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0001763HP:0001763Pes planus0PMPCA CL E G H2320318667ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 3HP:0040282 - Frequent7
HP:0001763HP:0001763Pes planus0PRDM5 CL E G H111079349ORPHA:90354Brittle cornea syndromeHP:0040283 - Occasional58
HP:0001763HP:0001763Pes planus0PRKG1 CL E G H55929414ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional41
HP:0001763HP:0001763Pes planus0PRKG2 CL E G H55939416OMIM:619638SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0001763HP:0001763Pes planus0PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040283 - Occasional9
HP:0001763HP:0001763Pes planus0PROKR2 CL E G H12867415836OMIM:244200Hypogonadotropic hypogonadism 3 with or without anosmia.34
HP:0001763HP:0001763Pes planus0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040283 - Occasional34
HP:0001763HP:0001763Pes planus0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0001763HP:0001763Pes planus0PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0001763HP:0001763Pes planus0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0001763HP:0001763Pes planus0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0001763HP:0001763Pes planus0PYCR1 CL E G H58319721OMIM:614438Cutis laxa, autosomal recessive, type IIIB53
HP:0001763HP:0001763Pes planus0PYCR1 CL E G H58319721ORPHA:2078Geroderma osteodysplasticaHP:0040283 - Occasional53
HP:0001763HP:0001763Pes planus0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0001763HP:0001763Pes planus0RAB33B CL E G H8345216075OMIM:615222Smith-Mccort dysplasia 2.53
HP:0001763HP:0001763Pes planus0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0001763HP:0001763Pes planus0RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B.50
HP:0001763HP:0001763Pes planus0RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0001763HP:0001763Pes planus0RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0001763HP:0001763Pes planus0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040283 - Occasional150
HP:0001763HP:0001763Pes planus0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0001763HP:0001763Pes planus0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040282 - Frequent150
HP:0001763HP:0001763Pes planus0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001763HP:0001763Pes planus0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0001763HP:0001763Pes planus0RIN2 CL E G H5445318750OMIM:613075Macs syndrome.43
HP:0001763HP:0001763Pes planus0RIN2 CL E G H5445318750ORPHA:217335RIN2 syndromeHP:0040281 - Very frequent43
HP:0001763HP:0001763Pes planus0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0001763HP:0001763Pes planus0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040282 - Frequent65
HP:0001763HP:0001763Pes planus0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome.65
HP:0001763HP:0001763Pes planus0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040282 - Frequent2
HP:0001763HP:0001763Pes planus0RYR1 CL E G H626110483OMIM:117000Central core disease.1200
HP:0001763HP:0001763Pes planus0RYR1 CL E G H626110483ORPHA:597Central core diseaseHP:0040282 - Frequent1200
HP:0001763HP:0001763Pes planus0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent124
HP:0001763HP:0001763Pes planus0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome.86
HP:0001763HP:0001763Pes planus0SARS1 CL E G H630110537OMIM:617709Neurodevelopmental disorder with microcephaly, ataxia, and seizures.
HP:0001763HP:0001763Pes planus0SBF1 CL E G H630510542OMIM:615284Charcot-Marie-Tooth disease, type 4B3.16
HP:0001763HP:0001763Pes planus0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0001763HP:0001763Pes planus0SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040283 - Occasional1053
HP:0001763HP:0001763Pes planus0SCN1A CL E G H632310585ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare1053
HP:0001763HP:0001763Pes planus0SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040283 - Occasional126
HP:0001763HP:0001763Pes planus0SCN1B CL E G H632410586ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare126
HP:0001763HP:0001763Pes planus0SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040283 - Occasional427
HP:0001763HP:0001763Pes planus0SCN2A CL E G H632610588ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare427
HP:0001763HP:0001763Pes planus0SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040283 - Occasional318
HP:0001763HP:0001763Pes planus0SCN9A CL E G H633510597ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare318
HP:0001763HP:0001763Pes planus0SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectHP:0040282 - Frequent40
HP:0001763HP:0001763Pes planus0SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia.2
HP:0001763HP:0001763Pes planus0SEC23A CL E G H1048410701ORPHA:50814Craniolenticulosutural dysplasiaHP:0040282 - Frequent2
HP:0001763HP:0001763Pes planus0SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathyHP:0040283 - Occasional144
HP:0001763HP:0001763Pes planus0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndromeHP:0040283 - Occasional14
HP:0001763HP:0001763Pes planus0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040283 - Occasional60
HP:0001763HP:0001763Pes planus0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040282 - Frequent493
HP:0001763HP:0001763Pes planus0SIL1 CL E G H6437424624OMIM:248800Marinesco-Sjogren syndrome.67
HP:0001763HP:0001763Pes planus0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome.150
HP:0001763HP:0001763Pes planus0SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndromeHP:0040281 - Very frequent150
HP:0001763HP:0001763Pes planus0SLC10A7 CL E G H8406823088OMIM:618363Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosisHP:0040284 - Very rare
HP:0001763HP:0001763Pes planus0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome.57
HP:0001763HP:0001763Pes planus0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040282 - Frequent57
HP:0001763HP:0001763Pes planus0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhood63
HP:0001763HP:0001763Pes planus0SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4166
HP:0001763HP:0001763Pes planus0SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040283 - Occasional68
HP:0001763HP:0001763Pes planus0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0001763HP:0001763Pes planus0SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0001763HP:0001763Pes planus0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 3.24
HP:0001763HP:0001763Pes planus0SLC5A7 CL E G H6048214025OMIM:617143Myasthenic syndrome, congenital, 20, presynaptic9
HP:0001763HP:0001763Pes planus0SLC9A7 CL E G H8467917123OMIM:301024Intellectual developmental disorder, X-linked 108HP:0040284 - Very rare
HP:0001763HP:0001763Pes planus0SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0001763HP:0001763Pes planus0SMAD2 CL E G H40876768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional7
HP:0001763HP:0001763Pes planus0SMAD2 CL E G H40876768OMIM:619656LOEYS-DIETZ SYNDROME 6; LDS67
HP:0001763HP:0001763Pes planus0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndromeHP:0040281 - Very frequent260
HP:0001763HP:0001763Pes planus0SMAD3 CL E G H40886769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional260
HP:0001763HP:0001763Pes planus0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0001763HP:0001763Pes planus0SMAD4 CL E G H40896770ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional504
HP:0001763HP:0001763Pes planus0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0001763HP:0001763Pes planus0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0001763HP:0001763Pes planus0SOX10 CL E G H666311190ORPHA:478Kallmann syndromeHP:0040283 - Occasional61
HP:0001763HP:0001763Pes planus0SOX5 CL E G H666011201OMIM:616803Lamb-Shaffer syndromeHP:0040283 - Occasional11
HP:0001763HP:0001763Pes planus0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0001763HP:0001763Pes planus0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0001763HP:0001763Pes planus0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0001763HP:0001763Pes planus0SPRTN CL E G H8393225356OMIM:616200Ruijs-Aalfs syndrome.3
HP:0001763HP:0001763Pes planus0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndromeHP:0040283 - Occasional5
HP:0001763HP:0001763Pes planus0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.1
HP:0001763HP:0001763Pes planus0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001763HP:0001763Pes planus0STX1B CL E G H11275518539ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare9
HP:0001763HP:0001763Pes planus0SYT2 CL E G H12783311510OMIM:616040Myasthenic syndrome, congenital, 7, presynaptic4
HP:0001763HP:0001763Pes planus0TACR3 CL E G H687011528ORPHA:478Kallmann syndromeHP:0040283 - Occasional34
HP:0001763HP:0001763Pes planus0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001763HP:0001763Pes planus0TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndromeHP:0040281 - Very frequent22
HP:0001763HP:0001763Pes planus0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001763HP:0001763Pes planus0TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndromeHP:0040283 - Occasional55
HP:0001763HP:0001763Pes planus0TBX4 CL E G H949611603OMIM:147891Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension.55
HP:0001763HP:0001763Pes planus0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040281 - Very frequent241
HP:0001763HP:0001763Pes planus0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0001763HP:0001763Pes planus0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0001763HP:0001763Pes planus0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001763HP:0001763Pes planus0TGFB1 CL E G H704011766ORPHA:1328Camurati-Engelmann diseaseHP:0040283 - Occasional13
HP:0001763HP:0001763Pes planus0TGFB2 CL E G H704211768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional162
HP:0001763HP:0001763Pes planus0TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0001763HP:0001763Pes planus0TGFB3 CL E G H704311769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional85
HP:0001763HP:0001763Pes planus0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0001763HP:0001763Pes planus0TGFBR1 CL E G H704611772ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional239
HP:0001763HP:0001763Pes planus0TGFBR1 CL E G H704611772ORPHA:60030Loeys-Dietz syndromeHP:0040281 - Very frequent239
HP:0001763HP:0001763Pes planus0TGFBR2 CL E G H704811773ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional253
HP:0001763HP:0001763Pes planus0TGFBR2 CL E G H704811773ORPHA:60030Loeys-Dietz syndromeHP:0040281 - Very frequent253
HP:0001763HP:0001763Pes planus0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0001763HP:0001763Pes planus0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 57.1
HP:0001763HP:0001763Pes planus0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndromeHP:0040283 - Occasional6
HP:0001763HP:0001763Pes planus0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001763HP:0001763Pes planus0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040283 - Occasional
HP:0001763HP:0001763Pes planus0TPM2 CL E G H716912011ORPHA:171881Cap myopathyHP:0040283 - Occasional54
HP:0001763HP:0001763Pes planus0TPM3 CL E G H717012012ORPHA:171881Cap myopathyHP:0040283 - Occasional108
HP:0001763HP:0001763Pes planus0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0001763HP:0001763Pes planus0TRMT1 CL E G H5562125980OMIM:618302Intellectual developmental disorder, autosomal recessive 68HP:0040284 - Very rare1
HP:0001763HP:0001763Pes planus0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171
HP:0001763HP:0001763Pes planus0TRPV4 CL E G H5934118083OMIM:600175Spinal muscular atrophy, distal, congenital nonprogressive.214
HP:0001763HP:0001763Pes planus0TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathyHP:0040283 - Occasional7128
HP:0001763HP:0001763Pes planus0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0001763HP:0001763Pes planus0UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0001763HP:0001763Pes planus0UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive.21
HP:0001763HP:0001763Pes planus0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0001763HP:0001763Pes planus0VLDLR CL E G H743612698OMIM:224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1.111
HP:0001763HP:0001763Pes planus0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome.546
HP:0001763HP:0001763Pes planus0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001763HP:0001763Pes planus0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0001763HP:0001763Pes planus0WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0001763HP:0001763Pes planus0WDR11 CL E G H5571713831ORPHA:478Kallmann syndromeHP:0040283 - Occasional10
HP:0001763HP:0001763Pes planus0XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0001763HP:0001763Pes planus0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0001763HP:0001763Pes planus0XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDGHP:0040282 - Frequent14
HP:0001763HP:0001763Pes planus0XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndromeHP:0040282 - Frequent5
HP:0001763HP:0001763Pes planus0XYLT2 CL E G H6413215517OMIM:605822Spondyloocular syndrome.5
HP:0001763HP:0001763Pes planus0ZDHHC9 CL E G H5111418475OMIM:300799Mental retardation, x-linked syndromic, Raymond type.10
HP:0001763HP:0001763Pes planus0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0001763HP:0001763Pes planus0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362
HP:0001763HP:0001763Pes planus0ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies.4
HP:0001763HP:0001763Pes planus0ZNF469 CL E G H8462723216ORPHA:90354Brittle cornea syndromeHP:0040283 - Occasional397
HP:0001763HP:0032649Skewfoot1ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0001763HP:0032649Skewfoot1ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0001763HP:0032649Skewfoot1CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0001763HP:0032649Skewfoot1NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4DHP:0040283 - Occasional82
HP:0001763HP:0032649Skewfoot1SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0001763HP:0032649Skewfoot1SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040283 - Occasional166


Genes (335) :ABL1 ACTA2 ADGRV1 AEBP1 AFF3 AGA AHCY ALDH18A1 ALG14 ALG2 ALMS1 AMMECR1 ANOS1 AP1G1 AP4B1 AP4E1 AP4M1 AP4S1 APC2 ARX ASPH ASXL3 ATP1A2 ATP1A3 ATP6AP2 ATP6V0A2 ATP6V1B2 ATP6V1E1 ATP7A ATR ATRX B3GALT6 B3GAT3 B4GALT7 BAZ1B BCL7B BCR BGN BICD2 BPTF BRCA1 BRCA2 BRF1 BRIP1 BRWD3 BSCL2 BUD23 C12ORF57 CACNA1A CACNA1C CADM3 CANT1 CCDC141 CCNK CDC42BPB CDK10 CEP152 CFL2 CHCHD10 CHD7 CHD8 CHST3 CIC CLCN4 CLDN11 CLIP2 CNOT3 COL12A1 COL1A1 COL1A2 COL2A1 COL5A1 COL5A2 COL9A3 COMP COPB1 CREBBP CRKL CRLF1 CSGALNACT1 CTSC CUL4B CUL7 CWC27 DACT1 DCC DEAF1 DHX30 DLG4 DMD DNAJC30 DPAGT1 DPH1 DPH5 DPM3 DUSP6 DYM EGR2 EIF3F EIF4H EIF5A ELN EMILIN1 EP300 ERCC4 EXOC6B EXT2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBLN5 FBN1 FBXO11 FEZF1 FGD1 FGF17 FGF8 FGFR1 FIBP FKBP14 FKBP6 FLI1 FLII FLNA FLNB FLRT3 FMR1 FOXE3 FOXG1 GABRA1 GABRD GABRG2 GAN GARS1 GATA4 GDF11 GDF5 GDF6 GFPT1 GJA5 GJA8 GMPPB GNB1 GORAB GRIA3 GRIN2B GRIN2D GTF2I GTF2IRD1 GTF2IRD2 H3-3B H4C11 H4C5 HCN1 HDAC8 HEATR3 HERC1 HESX1 HEY2 HIVEP2 HK1 HNRNPH2 HNRNPK HS6ST1 HSPG2 IARS2 IFITM5 IL17RD IPO8 IQSEC2 KANSL1 KAT6A KCNH1 KCNN3 KDELR2 LAS1L LIMK1 LMNA LMX1B LOX MAB21L2 MAD2L2 MAPK1 MAPRE2 MAT2A MED12 MED12L METTL23 METTL27 MFAP5 MGAT2 MLXIPL MMP2 MORC2 MPZ MTOR MYH11 MYH7 MYLK MYPN NAA20 NCF1 NDNF NDRG1 NDST1 NDUFAF6 NONO NPR3 NSD1 PACS1 PALB2 PCDH19 PDE4D PEX6 PHF8 PIEZO2 PIGG PLOD1 PMM2 PMP22 PMPCA PRDM5 PRKG1 PRKG2 PROK2 PROKR2 PRR12 PRX PUF60 PYCR1 PYROXD1 RAB33B RAB3GAP2 RAB7A RAD51 RAD51C RAI1 RFC2 RFWD3 RIN2 RLIM RPS6KA3 RSPRY1 RYR1 SALL1 SALL4 SARS1 SBF1 SBF2 SCN1A SCN1B SCN2A SCN9A SCO2 SEC23A SELENON SEMA3A SETD2 SH3TC2 SIL1 SKI SLC10A7 SLC16A2 SLC1A3 SLC26A2 SLC29A3 SLC37A4 SLC39A13 SLC5A7 SLC9A7 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SNRPN SOX10 SOX5 SOX9 SPEN SPRED2 SPRTN SPRY4 STAG2 STX1A STX1B SYT2 TACR3 TAOK1 TBL1XR1 TBL2 TBX4 TCF4 TET3 TFE3 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TLK2 TMCO1 TMEM270 TONSL TPM2 TPM3 TRIO TRMT1 TRPS1 TRPV4 TTN UBE2A UBE2T UCHL1 USP9X VLDLR VPS13B VPS37D WAC WASF1 WDR11 XRCC2 XYLT1 XYLT2 ZDHHC9 ZEB2 ZNF148 ZNF469

Diseases (275) :OMIM:617602 ORPHA:91387 ORPHA:36387 ORPHA:536532 OMIM:618000 OMIM:619297 ORPHA:93 ORPHA:88618 ORPHA:90348 ORPHA:353327 OMIM:616228 ORPHA:64 OMIM:203800 OMIM:300990 ORPHA:478 OMIM:619467 ORPHA:280763 OMIM:614066 ORPHA:821 OMIM:300419 OMIM:601552 ORPHA:352577 OMIM:615485 ORPHA:2131 ORPHA:93952 OMIM:219200 OMIM:278250 ORPHA:2834 ORPHA:79499 ORPHA:3473 OMIM:617402 ORPHA:198 OMIM:304150 OMIM:210600 OMIM:309580 OMIM:271640 OMIM:245600 ORPHA:75496 OMIM:130070 ORPHA:904 ORPHA:261330 OMIM:300989 OMIM:615290 OMIM:617755 ORPHA:84 OMIM:616202 OMIM:300659 ORPHA:100998 OMIM:218340 ORPHA:1777 OMIM:620029 OMIM:619519 OMIM:251450 OMIM:618147 OMIM:619841 OMIM:617694 OMIM:613823 OMIM:610687 OMIM:615048 OMIM:615032 OMIM:143095 OMIM:617600 ORPHA:485350 OMIM:619328 OMIM:618672 ORPHA:536516 ORPHA:287 ORPHA:230851 OMIM:617821 OMIM:225320 OMIM:184250 OMIM:130000 OMIM:619329 OMIM:620022 OMIM:132400 OMIM:619255 OMIM:180849 OMIM:272430 OMIM:618870 OMIM:245010 OMIM:300354 OMIM:273750 ORPHA:166035 ORPHA:857 ORPHA:819 OMIM:617804 OMIM:618793 ORPHA:98895 ORPHA:459061 OMIM:620070 ORPHA:263494 OMIM:223800 OMIM:145900 OMIM:618295 OMIM:619376 OMIM:620080 OMIM:618395 OMIM:616682 OMIM:616914 OMIM:154700 ORPHA:2462 OMIM:618089 OMIM:305400 ORPHA:915 OMIM:617107 OMIM:614557 ORPHA:300179 ORPHA:2308 ORPHA:555877 OMIM:309350 OMIM:272460 OMIM:300624 ORPHA:908 ORPHA:449291 OMIM:613454 ORPHA:33069 OMIM:256850 OMIM:600794 ORPHA:251071 OMIM:619122 OMIM:615298 OMIM:617898 OMIM:612474 OMIM:616973 ORPHA:2078 ORPHA:364028 OMIM:613970 OMIM:617162 OMIM:619721 OMIM:619759 OMIM:619950 ORPHA:3459 OMIM:620072 OMIM:617011 ORPHA:457359 OMIM:616977 OMIM:618547 OMIM:300986 ORPHA:352665 ORPHA:453504 ORPHA:800 OMIM:255800 OMIM:616007 OMIM:610967 ORPHA:60030 OMIM:619472 ORPHA:217377 ORPHA:363958 ORPHA:363965 OMIM:616268 OMIM:619131 OMIM:309585 ORPHA:79474 OMIM:161200 ORPHA:2614 OMIM:615877 OMIM:619087 OMIM:616734 ORPHA:93932 OMIM:618872 OMIM:615942 OMIM:212066 OMIM:259600 OMIM:616688 OMIM:618184 ORPHA:457485 ORPHA:324604 ORPHA:437572 ORPHA:171881 OMIM:619717 ORPHA:99950 OMIM:616116 OMIM:618239 ORPHA:466791 OMIM:300967 OMIM:619543 OMIM:117550 ORPHA:329224 OMIM:615009 ORPHA:439822 OMIM:616617 OMIM:300263 OMIM:617146 ORPHA:488635 OMIM:225400 ORPHA:1900 ORPHA:79318 ORPHA:1170 ORPHA:90354 OMIM:619638 OMIM:244200 OMIM:619539 ORPHA:508488 ORPHA:508498 OMIM:614438 OMIM:617258 OMIM:615222 OMIM:212720 OMIM:600882 ORPHA:477817 OMIM:182290 OMIM:613075 ORPHA:217335 OMIM:300978 ORPHA:192 OMIM:303600 ORPHA:457395 OMIM:117000 ORPHA:597 OMIM:607323 OMIM:617709 OMIM:615284 ORPHA:99956 ORPHA:521411 OMIM:607812 ORPHA:50814 ORPHA:99949 OMIM:248800 OMIM:182212 OMIM:618363 OMIM:300523 ORPHA:59 ORPHA:93307 ORPHA:168569 OMIM:602782 OMIM:619525 OMIM:612350 OMIM:617143 OMIM:301024 OMIM:619656 ORPHA:284984 OMIM:613795 OMIM:619293 ORPHA:177907 OMIM:616803 OMIM:114290 OMIM:619312 OMIM:619745 OMIM:616200 OMIM:301022 OMIM:616040 OMIM:619575 ORPHA:487825 ORPHA:261279 OMIM:147891 ORPHA:2896 OMIM:610954 OMIM:618798 OMIM:301066 ORPHA:1328 OMIM:614816 OMIM:615582 OMIM:610168 OMIM:618050 OMIM:213980 ORPHA:93357 ORPHA:476126 OMIM:618302 OMIM:190350 OMIM:600175 OMIM:300860 OMIM:615491 ORPHA:480880 OMIM:224050 OMIM:216550 ORPHA:466950 OMIM:618707 OMIM:615777 ORPHA:370930 ORPHA:85194 OMIM:605822 OMIM:300799 ORPHA:261552 ORPHA:261537 OMIM:617260
 

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