Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | . | | | 2 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:609465 | AL-GAZALI SYNDROME | | | | 38 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | . | | | 38 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 5 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 165 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | HP:0040282 - Frequent | | | 291 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040282 - Frequent | | | 291 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040282 - Frequent | | | 250 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | | | | 175 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | . | | | 493 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:503 | Larsen syndrome | HP:0040281 - Very frequent | | | 233 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | | | | 101 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | | | | 101 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:2662 | Keipert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:301026 | Keipert syndrome | . | | | | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | HOXD13 CL E G H | 3239 | 5136 | OMIM:113200 | Brachydactyly, type D | | | | 25 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | KIF22 CL E G H | 3835 | 6391 | OMIM:603546 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | . | | | 14 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | HP:0040281 - Very frequent | | | 15 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | SETD5 CL E G H | 55209 | 25566 | ORPHA:404440 | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | HP:0040283 - Occasional | | | 43 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | SETD5 CL E G H | 55209 | 25566 | OMIM:615761 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 | | | | 43 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:3051 | Nicolaides-Baraitser syndrome | HP:0040282 - Frequent | | | 146 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614378 | Cranioectodermal dysplasia 4 | . | | | 95 | | |
HP:0009836 | HP:0009836 | Broad distal phalanx of finger | 0 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0009836 | HP:0009558 | Broad distal phalanx of the 2nd finger | 1 | CL E G H | | | | | | | | | | |
HP:0009836 | HP:0009422 | Broad distal phalanx of the 3rd finger | 1 | CL E G H | | | | | | | | | | |
HP:0009836 | HP:0009292 | Broad distal phalanx of the 4th finger | 1 | CL E G H | | | | | | | | | | |
HP:0009836 | HP:0009240 | Broad distal phalanx of the 5th finger | 1 | CL E G H | | | | | | | | | | |
HP:0009836 | HP:0009880 | Broad distal phalanges of all fingers | 1 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | . | | | 5 | | |
HP:0009836 | HP:0009880 | Broad distal phalanges of all fingers | 1 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | . | | | 165 | | |
HP:0009836 | HP:0009642 | Broad distal phalanx of the thumb | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | . | | | 175 | | |
HP:0009836 | HP:0009642 | Broad distal phalanx of the thumb | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | . | | | 493 | | |
HP:0009836 | HP:0009642 | Broad distal phalanx of the thumb | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040283 - Occasional | | | 101 | | |
HP:0009836 | HP:0009642 | Broad distal phalanx of the thumb | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040283 - Occasional | | | 101 | | |
HP:0009836 | HP:0009642 | Broad distal phalanx of the thumb | 1 | HOXD13 CL E G H | 3239 | 5136 | OMIM:113200 | Brachydactyly, type D | . | | | 25 | | |
HP:0009836 | HP:0009880 | Broad distal phalanges of all fingers | 1 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |