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:0000998 | HP:0000998 | Hypertrichosis | 0 | ABCA5 CL E G H | 23461 | 35 | ORPHA:2026 | Gingival fibromatosis-hypertrichosis syndrome | | | | 1 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ABCA5 CL E G H | 23461 | 35 | OMIM:135400 | Hypertrichosis terminalis, generalized, with or without gingival hyperplasia | . | | | 1 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | | | | 254 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | | | | 9 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | AFF4 CL E G H | 27125 | 17869 | OMIM:616368 | CHOPS syndrome | | | | 6 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | | | | 6 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | AGPAT2 CL E G H | 10555 | 325 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040282 - Frequent | | | 85 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | | | | 95 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:263210 | Gillessen-Kaesbach-Nishimura syndrome | | | | 93 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:2332 | KBG syndrome | | | | 102 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | | | | 102 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | 88 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | 219 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ARX CL E G H | 170302 | 18060 | OMIM:300004 | Corpus callosum, agenesis of, with abnormal genitalia | | | | 166 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | | | | 7 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ASXL3 CL E G H | 80816 | 29357 | ORPHA:352577 | Bainbridge-Ropers syndrome | | | | 49 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 5 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:616455 | Zimmermann-Laband syndrome 2 | | | | 5 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | | | | 36 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | BCAS3 CL E G H | 54828 | 14347 | OMIM:619641 | HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS | | | | 2 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | BLM CL E G H | 641 | 1058 | OMIM:210900 | Bloom syndrome | . | | | 314 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | | | | 13 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 2 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040282 - Frequent | | | 105 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CAV1 CL E G H | 857 | 1527 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040282 - Frequent | | | 11 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CAVIN1 CL E G H | 284119 | 9688 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040282 - Frequent | | | 48 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | . | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | | | | 6 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | | | | 6 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | | | | 2 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | | | | 2 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | | | | 2 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | | | | 405 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 289 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CDON CL E G H | 50937 | 17104 | OMIM:614226 | Holoprosencephaly 11 | | | | 200 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CERT1 CL E G H | 10087 | 2205 | OMIM:616351 | Mental retardation, autosomal dominant 34 | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CHD5 CL E G H | 26038 | 16816 | OMIM:619873 | | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CHMP1A CL E G H | 5119 | 8740 | OMIM:614961 | Pontocerebellar hypoplasia, type 8 | HP:0040283 - Occasional | | | 19 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CHRNA7 CL E G H | 1139 | 1960 | OMIM:612001 | Chromosome 15q13.3 microdeletion syndrome | | | | 52 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CHSY1 CL E G H | 22856 | 17198 | OMIM:605282 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CKAP2L CL E G H | 150468 | 26877 | OMIM:272440 | Filippi syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | COX15 CL E G H | 1355 | 2263 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 104 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | COX5A CL E G H | 9377 | 2267 | OMIM:619064 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20 | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CSNK2A1 CL E G H | 1457 | 2457 | OMIM:617062 | Okur-Chung neurodevelopmental syndrome | | | | 12 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | HP:0040283 - Occasional | | | 20 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 88 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | HP:0040283 - Occasional | | | 50 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CUL4B CL E G H | 8450 | 2555 | ORPHA:85293 | X-linked intellectual disability, Cabezas type | | | | 38 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CWF19L1 CL E G H | 55280 | 25613 | ORPHA:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | | | | 9 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | CWF19L1 CL E G H | 55280 | 25613 | OMIM:616127 | Spinocerebellar ataxia, autosomal recessive 17 | | | | 9 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | | | | 33 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | DHX30 CL E G H | 22907 | 16716 | OMIM:617804 | Neurodevelopmental disorder with severe motor impairment and absent language | | | | 4 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | DOCK7 CL E G H | 85440 | 19190 | ORPHA:411986 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | | | | 11 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040283 - Occasional | | | 38 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ECHS1 CL E G H | 1892 | 3151 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 33 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | EDN3 CL E G H | 1908 | 3178 | ORPHA:897 | Waardenburg-Shah syndrome | | | | 67 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | EDNRB CL E G H | 1910 | 3180 | ORPHA:897 | Waardenburg-Shah syndrome | | | | 55 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | | | | 223 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | EMC10 CL E G H | 284361 | 27609 | OMIM:619264 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:209951 | Autosomal recessive spastic paraplegia type 18 | | | | 18 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:280384 | Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome | | | | 18 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | FBXO31 CL E G H | 79791 | 16510 | OMIM:615979 | Mental retardation, autosomal recessive 45 | | | | 8 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | FGF3 CL E G H | 2248 | 3681 | ORPHA:90024 | Deafness with labyrinthine aplasia, microtia, and microdontia | | | | 18 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3366 | Isolated trigonocephaly | | | | 172 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:190440 | Trigonocephaly 1 | | | | 172 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300280 | Uruguay faciocardiomusculoskeletal syndrome | | | | 68 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | FOS CL E G H | 2353 | 3796 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040282 - Frequent | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 61 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | FREM1 CL E G H | 158326 | 23399 | ORPHA:3366 | Isolated trigonocephaly | | | | 198 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 29 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | GJB4 CL E G H | 127534 | 4286 | OMIM:617524 | Erythrokeratodermia variabilis et progressiva 2 | . | | | 12 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | . | | | 120 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | GNA14 CL E G H | 9630 | 4382 | ORPHA:1063 | Tufted angioma | HP:0040283 - Occasional | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | | | | 173 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | | | | 5 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | | | | 37 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | | | | 37 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | HEATR3 CL E G H | 55027 | 26087 | OMIM:620072 | | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | HFE CL E G H | 3077 | 4886 | OMIM:176100 | Porphyria cutanea tarda | | | | 38 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | | | | 86 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | HID1 CL E G H | 283987 | 15736 | OMIM:619983 | | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:94063 | 12q14 microdeletion syndrome | | | | 2 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | HNRNPU CL E G H | 3192 | 5048 | ORPHA:238769 | 1q44 microdeletion syndrome | | | | 39 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | HSPA9 CL E G H | 3313 | 5244 | OMIM:616854 | Even-Plus syndrome | | | | 6 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | | | | 268 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | IL1RAPL1 CL E G H | 11141 | 5996 | OMIM:300143 | Mental retardation, X-linked 21 | | | | 42 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619750 | IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94 | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | . | | | 229 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | HP:0040281 - Very frequent | | | 229 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | INSR CL E G H | 3643 | 6091 | OMIM:262190 | Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities | . | | | 229 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040282 - Frequent | | | 229 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | | | | 119 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | | | | 10 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 13 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | | | | 13 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | KCNK4 CL E G H | 50801 | 6279 | OMIM:618381 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | . | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618729 | LIANG-WANG SYNDROME; LIWAS | | | | 114 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 7 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | KDM1A CL E G H | 23028 | 29079 | OMIM:616728 | Cleft palate, psychomotor retardation, and distinctive facial features | | | | 3 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 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:0000998 | HP:0000998 | Hypertrichosis | 0 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619479 | SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21 | | | | 4 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:2884 | Piebaldism | | | | 327 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | KLF13 CL E G H | 51621 | 13672 | OMIM:612001 | Chromosome 15q13.3 microdeletion syndrome | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | | | | 91 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | KMT2A CL E G H | 4297 | 7132 | OMIM:605130 | Wiedemann-Steiner syndrome | | | | 91 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | KNL1 CL E G H | 57082 | 24054 | OMIM:604321 | Microcephaly 4, primary, autosomal recessive | | | | 112 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:609165 | Erythroderma, ichthyosiform, congenital reticular | HP:0040283 - Occasional | | | 45 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:94063 | 12q14 microdeletion syndrome | | | | 68 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | LIPT1 CL E G H | 51601 | 29569 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 21 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | LTBP3 CL E G H | 4054 | 6716 | OMIM:601216 | Dental anomalies and short stature | . | | | 12 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | . | | | 136 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | MAP1B CL E G H | 4131 | 6836 | OMIM:618918 | PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9 | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | | | | 4 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | | | | 252 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | MED13 CL E G H | 9969 | 22474 | OMIM:618009 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61 | | | | 4 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | MED27 CL E G H | 9442 | 2377 | OMIM:619286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | MITF CL E G H | 4286 | 7105 | OMIM:193510 | Waardenburg syndrome, type 2A | | | | 91 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | MITF CL E G H | 4286 | 7105 | ORPHA:897 | Waardenburg-Shah syndrome | | | | 91 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | MTFMT CL E G H | 123263 | 29666 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 29 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NAGLU CL E G H | 4669 | 7632 | OMIM:252920 | Mucopolysaccharidosis type IIIB | | | | 72 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NANS CL E G H | 54187 | 19237 | OMIM:610442 | Spondyloepimetaphyseal dysplasia, Genevieve type | | | | 8 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NDST1 CL E G H | 3340 | 7680 | OMIM:616116 | Mental retardation, autosomal recessive 46 | | | | 27 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NDUFA10 CL E G H | 4705 | 7684 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 91 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NDUFA12 CL E G H | 55967 | 23987 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 7 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NDUFA12 CL E G H | 55967 | 23987 | OMIM:618244 | Mitochondrial complex I deficiency, nuclear type 23 | . | | | 7 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NDUFA13 CL E G H | 51079 | 17194 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 3 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NDUFA2 CL E G H | 4695 | 7685 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 19 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NDUFA4 CL E G H | 4697 | 7687 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 4 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NDUFA9 CL E G H | 4704 | 7693 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 26 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040284 - Very rare | | | 31 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 34 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 39 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NDUFB8 CL E G H | 4714 | 7703 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040284 - Very rare | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 81 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040284 - Very rare | | | 65 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 65 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 22 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 38 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 42 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 74 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | | | | 4 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | | | | 43 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93399 | Juvenile sialidosis type 2 | | | | 43 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | | | | 494 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | | | | 138 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | | | | 138 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | | | | 84 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NUDT2 CL E G H | 318 | 8049 | OMIM:619844 | | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | NUS1 CL E G H | 116150 | 21042 | OMIM:617082 | Congenital disorder of glycosylation, type IAA | . | | | 1 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | OGT CL E G H | 8473 | 8127 | OMIM:300997 | Mental retardation, X-linked 106 | | | | 4 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | | | | 24 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | | | | 24 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PACS2 CL E G H | 23241 | 23794 | OMIM:618067 | Epileptic encephalopathy, early infantile, 66 | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | | | | 59 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | | | | 59 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | | | | 59 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PCDHGC4 CL E G H | 56098 | 8717 | OMIM:619880 | | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 88 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PET100 CL E G H | 100131801 | 40038 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 6 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PHF8 CL E G H | 23133 | 20672 | OMIM:300263 | Siderius X-linked mental retardation syndrome | | | | 23 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PHF8 CL E G H | 23133 | 20672 | ORPHA:85287 | X-linked intellectual disability, Siderius type | | | | 23 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PHIP CL E G H | 55023 | 15673 | OMIM:617991 | Developmental delay, intellectual disability, obesity, and dysmorphic features | | | | 11 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PHIP CL E G H | 55023 | 15673 | ORPHA:589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | | | | 11 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | | | 37 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040282 - Frequent | | | 42 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | HP:0040283 - Occasional | | | 41 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | | | | 2 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 134 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PSMC3 CL E G H | 5702 | 9549 | OMIM:619354 | DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 4 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | . | | | 85 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:600118 | Warburg micro syndrome 1 | | | | 90 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | | | | 3 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | | | | 25 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | | | | 25 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | | | | 150 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | RNF125 CL E G H | 54941 | 21150 | OMIM:616260 | Tenorio syndrome | . | | | 5 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | RPS23 CL E G H | 6228 | 10410 | OMIM:617412 | BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD | | | | 2 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | RUSC2 CL E G H | 9853 | 23625 | OMIM:617773 | Mental retardation, autosomal recessive 61 | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SCO2 CL E G H | 9997 | 10604 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040284 - Very rare | | | 40 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 304 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | | | | 143 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SETD5 CL E G H | 55209 | 25566 | OMIM:615761 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 | | | | 43 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SGSH CL E G H | 6448 | 10818 | OMIM:252900 | Mucopolysaccharidosis type IIIA | | | | 97 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SLC19A3 CL E G H | 80704 | 16266 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 110 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | | | | 4 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | HP:0040282 - Frequent | | | 68 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | 617 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SMARCA4 CL E G H | 6597 | 11100 | OMIM:614609 | Coffin-Siris syndrome 4 | . | | | 617 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:614608 | Coffin-Siris syndrome 3 | . | | | 87 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | 47 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | | | | 135 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:300590 | Cornelia de Lange syndrome 2 | | | | 135 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | | | | 91 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | | | | 91 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:603457 | Bosma arhinia microphthalmia syndrome | | | | 174 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | | | | 19 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | | | | 19 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:2884 | Piebaldism | | | | 19 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | | | | 14 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SNX14 CL E G H | 57231 | 14977 | OMIM:616354 | Spinocerebellar ataxia, autosomal recessive 20 | HP:0040283 - Occasional | | | 14 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:897 | Waardenburg-Shah syndrome | | | | 61 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SOX11 CL E G H | 6664 | 11191 | OMIM:615866 | Mental retardation, autosomal dominant 27 | . | | | 14 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | | | | 19 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618828 | NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1 | | | | 16 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612379 | Congenital disorder of glycosylation, type IQ | . | | | 80 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SRD5A3 CL E G H | 79644 | 25812 | ORPHA:324737 | SRD5A3-CDG | HP:0040283 - Occasional | | | 80 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | STAG1 CL E G H | 10274 | 11354 | ORPHA:502434 | STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome | | | | 9 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040284 - Very rare | | | 73 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 73 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | SUZ12 CL E G H | 23512 | 17101 | OMIM:618786 | IMAGAWA-MATSUMOTO SYNDROME; IMMAS | | | | 1 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TACO1 CL E G H | 51204 | 24316 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 23 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:480907 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | | | | 21 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TAF6 CL E G H | 6878 | 11540 | OMIM:617126 | Alazami-Yuan syndrome | | | | 5 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | | | | 34 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | | | | 13 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 238 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TLK2 CL E G H | 11011 | 11842 | OMIM:618050 | Mental retardation, autosomal dominant 57 | . | | | 1 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TMCO1 CL E G H | 54499 | 18188 | ORPHA:1394 | Cerebrofaciothoracic dysplasia | | | | 6 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | | | | 1 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | | | | 6 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 911 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TRAIP CL E G H | 10293 | 30764 | OMIM:616777 | Seckel syndrome 9 | . | | | 2 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TRAPPC10 CL E G H | 7109 | 11868 | OMIM:620027 | | | | | 1 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | | | | 158 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TRAPPC9 CL E G H | 83696 | 30832 | OMIM:613192 | Mental retardation, autosomal recessive 13 | | | | 158 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TRIM8 CL E G H | 81603 | 15579 | OMIM:619428 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS | | | | 1 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | | | | 8 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | | | | 8 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TRMT1 CL E G H | 55621 | 25980 | OMIM:618302 | Intellectual developmental disorder, autosomal recessive 68 | | | | 1 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | | | | 7 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TTI2 CL E G H | 80185 | 26262 | OMIM:615541 | Mental retardation, autosomal recessive 39 | | | | 11 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TTI2 CL E G H | 80185 | 26262 | ORPHA:391307 | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | | | | 11 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TUBGCP2 CL E G H | 10844 | 18599 | OMIM:618737 | PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | . | | | 7 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | UBR7 CL E G H | 55148 | 20344 | OMIM:619189 | LI-CAMPEAU SYNDROME; LICAS | | | | 1 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | UGDH CL E G H | 7358 | 12525 | OMIM:618792 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84 | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | UQCC2 CL E G H | 84300 | 21237 | OMIM:615824 | Mitochondrial complex III deficiency, nuclear type 7 | | | | 7 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | | | | 31 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | UROD CL E G H | 7389 | 12591 | OMIM:176100 | Porphyria cutanea tarda | | | | 31 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | | | | 41 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | UROS CL E G H | 7390 | 12592 | OMIM:263700 | Porphyria, congenital erythropoietic | . | | | 41 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | | | | 27 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 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:0000998 | HP:0000998 | Hypertrichosis | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040283 - Occasional | | | 1 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | VPS37A CL E G H | 137492 | 24928 | OMIM:614898 | SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53 | | | | 7 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | | | | 20 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | | | | 20 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | | | | 20 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | WBP11 CL E G H | 51729 | 16461 | OMIM:619227 | VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | WNT4 CL E G H | 54361 | 12783 | ORPHA:247768 | Müllerian aplasia and hyperandrogenism | | | | 4 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | | | | 14 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | XYLT1 CL E G H | 64131 | 15516 | ORPHA:370930 | XYLT1-CDG | | | | 14 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ZBTB20 CL E G H | 26137 | 13503 | ORPHA:3042 | Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | | | | 17 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ZIC2 CL E G H | 7546 | 12873 | OMIM:609637 | Holoprosencephaly 5 | | | | 34 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ZMYND11 CL E G H | 10771 | 16966 | OMIM:616083 | Mental retardation, autosomal dominant 30 | | | | 24 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ZNF292 CL E G H | 23036 | 18410 | OMIM:619188 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64 | | | | 3 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ZNF407 CL E G H | 55628 | 19904 | OMIM:619557 | SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA | | | | 68 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ZNF711 CL E G H | 7552 | 13128 | OMIM:300803 | MENTAL RETARDATION, X-LINKED 97; MRX97 | | | | 34 | | |
HP:0000998 | HP:0000998 | Hypertrichosis | 0 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | | | |
HP:0000998 | HP:0004780 | Elbow hypertrichosis | 1 | CL E G H | | | | | | | | | | |
HP:0000998 | HP:0004535 | Anterior cervical hypertrichosis | 1 | CL E G H | | | | | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ABCA5 CL E G H | 23461 | 35 | ORPHA:2026 | Gingival fibromatosis-hypertrichosis syndrome | | | | 1 | | |
HP:0000998 | HP:0004540 | Congenital, generalized hypertrichosis | 1 | ABCA5 CL E G H | 23461 | 35 | OMIM:135400 | Hypertrichosis terminalis, generalized, with or without gingival hyperplasia | . | | | 1 | | |
HP:0000998 | HP:0004540 | Congenital, generalized hypertrichosis | 1 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | . | | | 254 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | | | | 9 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | AFF4 CL E G H | 27125 | 17869 | OMIM:616368 | CHOPS syndrome | | | | 6 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | | | | 6 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | | | | 95 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ALG9 CL E G H | 79796 | 15672 | OMIM:263210 | Gillessen-Kaesbach-Nishimura syndrome | | | | 93 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:2332 | KBG syndrome | | | | 102 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | | | | 102 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ARX CL E G H | 170302 | 18060 | OMIM:300004 | Corpus callosum, agenesis of, with abnormal genitalia | | | | 166 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | | | | 7 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ASXL3 CL E G H | 80816 | 29357 | ORPHA:352577 | Bainbridge-Ropers syndrome | | | | 49 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000998 | HP:0004554 | Generalized hypertrichosis | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:616455 | Zimmermann-Laband syndrome 2 | | | | 5 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | BCAS3 CL E G H | 54828 | 14347 | OMIM:619641 | HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS | | | | 2 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | | | | 13 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 2 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | | | | 6 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | | | | 6 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | | | | 2 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | | | | 2 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | | | | 2 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | | | | 405 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | CDON CL E G H | 50937 | 17104 | OMIM:614226 | Holoprosencephaly 11 | | | | 200 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | CERT1 CL E G H | 10087 | 2205 | OMIM:616351 | Mental retardation, autosomal dominant 34 | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | CHD5 CL E G H | 26038 | 16816 | OMIM:619873 | | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | CHMP1A CL E G H | 5119 | 8740 | OMIM:614961 | Pontocerebellar hypoplasia, type 8 | | | | 19 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | CHRNA7 CL E G H | 1139 | 1960 | OMIM:612001 | Chromosome 15q13.3 microdeletion syndrome | | | | 52 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | CHSY1 CL E G H | 22856 | 17198 | OMIM:605282 | Temtamy preaxial brachydactyly syndrome | | | | 16 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | COX5A CL E G H | 9377 | 2267 | OMIM:619064 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20 | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | CSNK2A1 CL E G H | 1457 | 2457 | OMIM:617062 | Okur-Chung neurodevelopmental syndrome | | | | 12 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | | | | 20 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | CUL4B CL E G H | 8450 | 2555 | ORPHA:85293 | X-linked intellectual disability, Cabezas type | | | | 38 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | CWF19L1 CL E G H | 55280 | 25613 | ORPHA:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | | | | 9 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | CWF19L1 CL E G H | 55280 | 25613 | OMIM:616127 | Spinocerebellar ataxia, autosomal recessive 17 | | | | 9 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | | | | 33 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | DHX30 CL E G H | 22907 | 16716 | OMIM:617804 | Neurodevelopmental disorder with severe motor impairment and absent language | | | | 4 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | DOCK7 CL E G H | 85440 | 19190 | ORPHA:411986 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | | | | 11 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | EDN3 CL E G H | 1908 | 3178 | ORPHA:897 | Waardenburg-Shah syndrome | | | | 67 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | EDNRB CL E G H | 1910 | 3180 | ORPHA:897 | Waardenburg-Shah syndrome | | | | 55 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | | | | 223 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | EMC10 CL E G H | 284361 | 27609 | OMIM:619264 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:209951 | Autosomal recessive spastic paraplegia type 18 | | | | 18 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:280384 | Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome | | | | 18 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | FBXO31 CL E G H | 79791 | 16510 | OMIM:615979 | Mental retardation, autosomal recessive 45 | | | | 8 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | FGF3 CL E G H | 2248 | 3681 | ORPHA:90024 | Deafness with labyrinthine aplasia, microtia, and microdontia | | | | 18 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3366 | Isolated trigonocephaly | | | | 172 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:190440 | Trigonocephaly 1 | | | | 172 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300280 | Uruguay faciocardiomusculoskeletal syndrome | | | | 68 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | FREM1 CL E G H | 158326 | 23399 | ORPHA:3366 | Isolated trigonocephaly | | | | 198 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 29 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000998 | HP:0011914 | Thoracic hypertrichosis | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | | | | 173 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | | | | 5 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | | | | 37 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | | | | 37 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | HEATR3 CL E G H | 55027 | 26087 | OMIM:620072 | | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | HFE CL E G H | 3077 | 4886 | OMIM:176100 | Porphyria cutanea tarda | . | | | 38 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | | | | 86 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | HID1 CL E G H | 283987 | 15736 | OMIM:619983 | | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:94063 | 12q14 microdeletion syndrome | | | | 2 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | HNRNPU CL E G H | 3192 | 5048 | ORPHA:238769 | 1q44 microdeletion syndrome | | | | 39 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | HSPA9 CL E G H | 3313 | 5244 | OMIM:616854 | Even-Plus syndrome | | | | 6 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | | | | 268 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | IL1RAPL1 CL E G H | 11141 | 5996 | OMIM:300143 | Mental retardation, X-linked 21 | | | | 42 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | HP:0040282 - Frequent | | | 229 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | | | | 119 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | | | | 10 | | |
HP:0000998 | HP:0004554 | Generalized hypertrichosis | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | | | | 13 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | KCNK4 CL E G H | 50801 | 6279 | OMIM:618381 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618729 | LIANG-WANG SYNDROME; LIWAS | | | | 114 | | |
HP:0000998 | HP:0004554 | Generalized hypertrichosis | 1 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | KDM1A CL E G H | 23028 | 29079 | OMIM:616728 | Cleft palate, psychomotor retardation, and distinctive facial features | | | | 3 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | | | | 3 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | KIT CL E G H | 3815 | 6342 | ORPHA:2884 | Piebaldism | | | | 327 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | KLF13 CL E G H | 51621 | 13672 | OMIM:612001 | Chromosome 15q13.3 microdeletion syndrome | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | | | | 91 | | |
HP:0000998 | HP:0004540 | Congenital, generalized hypertrichosis | 1 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | KMT2A CL E G H | 4297 | 7132 | OMIM:605130 | Wiedemann-Steiner syndrome | | | | 91 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | KNL1 CL E G H | 57082 | 24054 | OMIM:604321 | Microcephaly 4, primary, autosomal recessive | | | | 112 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:94063 | 12q14 microdeletion syndrome | | | | 68 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | MAP1B CL E G H | 4131 | 6836 | OMIM:618918 | PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9 | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | | | | 4 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | | | | 252 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | MED13 CL E G H | 9969 | 22474 | OMIM:618009 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61 | | | | 4 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | MED27 CL E G H | 9442 | 2377 | OMIM:619286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | MITF CL E G H | 4286 | 7105 | OMIM:193510 | Waardenburg syndrome, type 2A | | | | 91 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | MITF CL E G H | 4286 | 7105 | ORPHA:897 | Waardenburg-Shah syndrome | | | | 91 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | NAGLU CL E G H | 4669 | 7632 | OMIM:252920 | Mucopolysaccharidosis type IIIB | | | | 72 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | NANS CL E G H | 54187 | 19237 | OMIM:610442 | Spondyloepimetaphyseal dysplasia, Genevieve type | | | | 8 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | NDST1 CL E G H | 3340 | 7680 | OMIM:616116 | Mental retardation, autosomal recessive 46 | | | | 27 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | | | | 4 | | |
HP:0000998 | HP:0004554 | Generalized hypertrichosis | 1 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | HP:0040284 - Very rare | | | 43 | | |
HP:0000998 | HP:0004554 | Generalized hypertrichosis | 1 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93399 | Juvenile sialidosis type 2 | HP:0040283 - Occasional | | | 43 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | | | | 494 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | | | | 138 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | | | | 138 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | | | | 84 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | NUDT2 CL E G H | 318 | 8049 | OMIM:619844 | | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | OGT CL E G H | 8473 | 8127 | OMIM:300997 | Mental retardation, X-linked 106 | | | | 4 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | | | | 24 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | | | | 24 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | PACS2 CL E G H | 23241 | 23794 | OMIM:618067 | Epileptic encephalopathy, early infantile, 66 | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | | | | 59 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | | | | 59 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | | | | 59 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | PCDHGC4 CL E G H | 56098 | 8717 | OMIM:619880 | | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | PHF8 CL E G H | 23133 | 20672 | OMIM:300263 | Siderius X-linked mental retardation syndrome | | | | 23 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | PHF8 CL E G H | 23133 | 20672 | ORPHA:85287 | X-linked intellectual disability, Siderius type | | | | 23 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | PHIP CL E G H | 55023 | 15673 | OMIM:617991 | Developmental delay, intellectual disability, obesity, and dysmorphic features | | | | 11 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | PHIP CL E G H | 55023 | 15673 | ORPHA:589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | | | | 11 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | | | 37 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | | | | 2 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | PSMC3 CL E G H | 5702 | 9549 | OMIM:619354 | DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 4 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:600118 | Warburg micro syndrome 1 | . | | | 90 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | | | | 3 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | | | | 25 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | | | | 25 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | | | | 150 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | RPS23 CL E G H | 6228 | 10410 | OMIM:617412 | BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD | | | | 2 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | RUSC2 CL E G H | 9853 | 23625 | OMIM:617773 | Mental retardation, autosomal recessive 61 | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | | | | 143 | | |
HP:0000998 | HP:0004554 | Generalized hypertrichosis | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040282 - Frequent | | | 143 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | SETD5 CL E G H | 55209 | 25566 | OMIM:615761 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 | | | | 43 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | SGSH CL E G H | 6448 | 10818 | OMIM:252900 | Mucopolysaccharidosis type IIIA | | | | 97 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | | | | 4 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | | | | 135 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | SMC1A CL E G H | 8243 | 11111 | OMIM:300590 | Cornelia de Lange syndrome 2 | | | | 135 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | | | | 91 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | | | | 91 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:603457 | Bosma arhinia microphthalmia syndrome | | | | 174 | | |
HP:0000998 | HP:0011913 | Lumbar hypertrichosis | 1 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | | | | 19 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | | | | 19 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:2884 | Piebaldism | | | | 19 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | SOX10 CL E G H | 6663 | 11190 | ORPHA:897 | Waardenburg-Shah syndrome | | | | 61 | | |
HP:0000998 | HP:0004532 | Sacral hypertrichosis | 1 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | HP:0040284 - Very rare | | | 19 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | SPOP CL E G H | 8405 | 11254 | OMIM:618828 | NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1 | | | | 16 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000998 | HP:0004554 | Generalized hypertrichosis | 1 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | STAG1 CL E G H | 10274 | 11354 | ORPHA:502434 | STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome | | | | 9 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TAF1 CL E G H | 6872 | 11535 | ORPHA:480907 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | | | | 21 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TAF6 CL E G H | 6878 | 11540 | OMIM:617126 | Alazami-Yuan syndrome | | | | 5 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | | | | 34 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | | | | 13 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TMCO1 CL E G H | 54499 | 18188 | ORPHA:1394 | Cerebrofaciothoracic dysplasia | | | | 6 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | | | | 1 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | | | | 6 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TRAPPC10 CL E G H | 7109 | 11868 | OMIM:620027 | | | | | 1 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | | | | 158 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TRAPPC9 CL E G H | 83696 | 30832 | OMIM:613192 | Mental retardation, autosomal recessive 13 | | | | 158 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TRIM8 CL E G H | 81603 | 15579 | OMIM:619428 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS | | | | 1 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | | | | 8 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | | | | 8 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TRMT1 CL E G H | 55621 | 25980 | OMIM:618302 | Intellectual developmental disorder, autosomal recessive 68 | | | | 1 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | | | | 7 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TTI2 CL E G H | 80185 | 26262 | OMIM:615541 | Mental retardation, autosomal recessive 39 | | | | 11 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TTI2 CL E G H | 80185 | 26262 | ORPHA:391307 | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | | | | 11 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | TUBGCP2 CL E G H | 10844 | 18599 | OMIM:618737 | PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0000998 | HP:0011913 | Lumbar hypertrichosis | 1 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040283 - Occasional | | | 7 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | UGDH CL E G H | 7358 | 12525 | OMIM:618792 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84 | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | UQCC2 CL E G H | 84300 | 21237 | OMIM:615824 | Mitochondrial complex III deficiency, nuclear type 7 | | | | 7 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | HP:0040283 - Occasional | | | 31 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | UROD CL E G H | 7389 | 12591 | OMIM:176100 | Porphyria cutanea tarda | . | | | 31 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 41 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | | | | 20 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | | | | 20 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | | | | 20 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | WNT4 CL E G H | 54361 | 12783 | ORPHA:247768 | Müllerian aplasia and hyperandrogenism | | | | 4 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | | | | 14 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | XYLT1 CL E G H | 64131 | 15516 | ORPHA:370930 | XYLT1-CDG | | | | 14 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ZBTB20 CL E G H | 26137 | 13503 | ORPHA:3042 | Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | | | | 17 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ZIC2 CL E G H | 7546 | 12873 | OMIM:609637 | Holoprosencephaly 5 | | | | 34 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ZMYND11 CL E G H | 10771 | 16966 | OMIM:616083 | Mental retardation, autosomal dominant 30 | | | | 24 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ZNF292 CL E G H | 23036 | 18410 | OMIM:619188 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64 | | | | 3 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ZNF407 CL E G H | 55628 | 19904 | OMIM:619557 | SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA | | | | 68 | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0000998 | HP:0002219 | Facial hypertrichosis | 1 | ZNF711 CL E G H | 7552 | 13128 | OMIM:300803 | MENTAL RETARDATION, X-LINKED 97; MRX97 | | | | 34 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | ABCA5 CL E G H | 23461 | 35 | ORPHA:2026 | Gingival fibromatosis-hypertrichosis syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | AFF4 CL E G H | 27125 | 17869 | OMIM:616368 | CHOPS syndrome | | | | 6 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 95 | | |
HP:0000998 | HP:0032313 | Frontotemporal hypertrichosis | 2 | ALG9 CL E G H | 79796 | 15672 | OMIM:263210 | Gillessen-Kaesbach-Nishimura syndrome | | | | 93 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:2332 | KBG syndrome | HP:0040282 - Frequent | | | 102 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | | | | 102 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | ARX CL E G H | 170302 | 18060 | OMIM:300004 | Corpus callosum, agenesis of, with abnormal genitalia | . | | | 166 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | | | | 7 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | ASXL3 CL E G H | 80816 | 29357 | ORPHA:352577 | Bainbridge-Ropers syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:616455 | Zimmermann-Laband syndrome 2 | . | | | 5 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | BCAS3 CL E G H | 54828 | 14347 | OMIM:619641 | HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS | | | | 2 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | . | | | 13 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | . | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | . | | | 6 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | . | | | 2 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | . | | | 2 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | HP:0040283 - Occasional | | | 405 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | CDON CL E G H | 50937 | 17104 | OMIM:614226 | Holoprosencephaly 11 | | | | 200 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | CERT1 CL E G H | 10087 | 2205 | OMIM:616351 | Mental retardation, autosomal dominant 34 | . | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | CHD5 CL E G H | 26038 | 16816 | OMIM:619873 | | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | CHMP1A CL E G H | 5119 | 8740 | OMIM:614961 | Pontocerebellar hypoplasia, type 8 | | | | 19 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | CHRNA7 CL E G H | 1139 | 1960 | OMIM:612001 | Chromosome 15q13.3 microdeletion syndrome | | | | 52 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | CHSY1 CL E G H | 22856 | 17198 | OMIM:605282 | Temtamy preaxial brachydactyly syndrome | . | | | 16 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | COX5A CL E G H | 9377 | 2267 | OMIM:619064 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20 | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | CSNK2A1 CL E G H | 1457 | 2457 | OMIM:617062 | Okur-Chung neurodevelopmental syndrome | . | | | 12 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | HP:0040283 - Occasional | | | 20 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | CUL4B CL E G H | 8450 | 2555 | ORPHA:85293 | X-linked intellectual disability, Cabezas type | HP:0040281 - Very frequent | | | 38 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | CWF19L1 CL E G H | 55280 | 25613 | ORPHA:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | CWF19L1 CL E G H | 55280 | 25613 | OMIM:616127 | Spinocerebellar ataxia, autosomal recessive 17 | | | | 9 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | DHX30 CL E G H | 22907 | 16716 | OMIM:617804 | Neurodevelopmental disorder with severe motor impairment and absent language | . | | | 4 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | DOCK7 CL E G H | 85440 | 19190 | ORPHA:411986 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | EDN3 CL E G H | 1908 | 3178 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040282 - Frequent | | | 67 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | EDNRB CL E G H | 1910 | 3180 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | HP:0040282 - Frequent | | | 223 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | EMC10 CL E G H | 284361 | 27609 | OMIM:619264 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:209951 | Autosomal recessive spastic paraplegia type 18 | HP:0040283 - Occasional | | | 18 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | ERLIN2 CL E G H | 11160 | 1356 | ORPHA:280384 | Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | FBXO31 CL E G H | 79791 | 16510 | OMIM:615979 | Mental retardation, autosomal recessive 45 | | | | 8 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | FGF3 CL E G H | 2248 | 3681 | ORPHA:90024 | Deafness with labyrinthine aplasia, microtia, and microdontia | HP:0040283 - Occasional | | | 18 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3366 | Isolated trigonocephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | FGFR1 CL E G H | 2260 | 3688 | OMIM:190440 | Trigonocephaly 1 | . | | | 172 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | FHL1 CL E G H | 2273 | 3702 | OMIM:300280 | Uruguay faciocardiomusculoskeletal syndrome | . | | | 68 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | FREM1 CL E G H | 158326 | 23399 | ORPHA:3366 | Isolated trigonocephaly | HP:0040282 - Frequent | | | 198 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | . | | | 173 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | . | | | 69 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 5 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | | | | 37 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | HEATR3 CL E G H | 55027 | 26087 | OMIM:620072 | | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | . | | | 86 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | HID1 CL E G H | 283987 | 15736 | OMIM:619983 | | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:94063 | 12q14 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | HNRNPU CL E G H | 3192 | 5048 | ORPHA:238769 | 1q44 microdeletion syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | HSPA9 CL E G H | 3313 | 5244 | OMIM:616854 | Even-Plus syndrome | | | | 6 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | . | | | 268 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | IL1RAPL1 CL E G H | 11141 | 5996 | OMIM:300143 | Mental retardation, X-linked 21 | | | | 42 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | | | | 10 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | . | | | 13 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | KCNK4 CL E G H | 50801 | 6279 | OMIM:618381 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | . | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618729 | LIANG-WANG SYNDROME; LIWAS | | | | 114 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | KDM1A CL E G H | 23028 | 29079 | OMIM:616728 | Cleft palate, psychomotor retardation, and distinctive facial features | HP:0040283 - Occasional | | | 3 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | . | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | KIT CL E G H | 3815 | 6342 | ORPHA:2884 | Piebaldism | HP:0040283 - Occasional | | | 327 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | KLF13 CL E G H | 51621 | 13672 | OMIM:612001 | Chromosome 15q13.3 microdeletion syndrome | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | KMT2A CL E G H | 4297 | 7132 | OMIM:605130 | Wiedemann-Steiner syndrome | . | | | 91 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | HP:0040283 - Occasional | | | 91 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | KNL1 CL E G H | 57082 | 24054 | OMIM:604321 | Microcephaly 4, primary, autosomal recessive | . | | | 112 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:94063 | 12q14 microdeletion syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | . | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | MAP1B CL E G H | 4131 | 6836 | OMIM:618918 | PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9 | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | | | | 4 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | HP:0040282 - Frequent | | | 252 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | MED13 CL E G H | 9969 | 22474 | OMIM:618009 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61 | | | | 4 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | MED27 CL E G H | 9442 | 2377 | OMIM:619286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | MITF CL E G H | 4286 | 7105 | OMIM:193510 | Waardenburg syndrome, type 2A | . | | | 91 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | MITF CL E G H | 4286 | 7105 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | NAGLU CL E G H | 4669 | 7632 | OMIM:252920 | Mucopolysaccharidosis type IIIB | . | | | 72 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | NANS CL E G H | 54187 | 19237 | OMIM:610442 | Spondyloepimetaphyseal dysplasia, Genevieve type | . | | | 8 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | NDST1 CL E G H | 3340 | 7680 | OMIM:616116 | Mental retardation, autosomal recessive 46 | | | | 27 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | . | | | 40 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 494 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | . | | | 138 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | . | | | 84 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | NUDT2 CL E G H | 318 | 8049 | OMIM:619844 | | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | OGT CL E G H | 8473 | 8127 | OMIM:300997 | Mental retardation, X-linked 106 | | | | 4 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | | | | 24 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | PACS2 CL E G H | 23241 | 23794 | OMIM:618067 | Epileptic encephalopathy, early infantile, 66 | . | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | PAX3 CL E G H | 5077 | 8617 | ORPHA:894 | Waardenburg syndrome type 1 | HP:0040282 - Frequent | | | 59 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | PAX3 CL E G H | 5077 | 8617 | OMIM:193500 | Waardenburg syndrome, type 1 | . | | | 59 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | PAX3 CL E G H | 5077 | 8617 | OMIM:148820 | Waardenburg syndrome, type 3 | . | | | 59 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | PCDHGC4 CL E G H | 56098 | 8717 | OMIM:619880 | | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | PHF8 CL E G H | 23133 | 20672 | OMIM:300263 | Siderius X-linked mental retardation syndrome | . | | | 23 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | PHF8 CL E G H | 23133 | 20672 | ORPHA:85287 | X-linked intellectual disability, Siderius type | HP:0040283 - Occasional | | | 23 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | PHIP CL E G H | 55023 | 15673 | OMIM:617991 | Developmental delay, intellectual disability, obesity, and dysmorphic features | . | | | 11 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | PHIP CL E G H | 55023 | 15673 | ORPHA:589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | | | | 11 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | PSMC3 CL E G H | 5702 | 9549 | OMIM:619354 | DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | | | | 3 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | . | | | 25 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | RPS23 CL E G H | 6228 | 10410 | OMIM:617412 | BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD | | | | 2 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | RUSC2 CL E G H | 9853 | 23625 | OMIM:617773 | Mental retardation, autosomal recessive 61 | . | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | . | | | 143 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | SETD5 CL E G H | 55209 | 25566 | OMIM:615761 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 | | | | 43 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | SGSH CL E G H | 6448 | 10818 | OMIM:252900 | Mucopolysaccharidosis type IIIA | . | | | 97 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | SLC1A4 CL E G H | 6509 | 10942 | ORPHA:447997 | Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | . | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | SMC1A CL E G H | 8243 | 11111 | OMIM:300590 | Cornelia de Lange syndrome 2 | | | | 135 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 91 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | | | | 91 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:603457 | Bosma arhinia microphthalmia syndrome | HP:0040283 - Occasional | | | 174 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | | | | 19 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | HP:0040283 - Occasional | | | 19 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | SNAI2 CL E G H | 6591 | 11094 | ORPHA:2884 | Piebaldism | HP:0040283 - Occasional | | | 19 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | SOX10 CL E G H | 6663 | 11190 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | SPOP CL E G H | 8405 | 11254 | OMIM:618828 | NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1 | | | | 16 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | STAG1 CL E G H | 10274 | 11354 | ORPHA:502434 | STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TAF1 CL E G H | 6872 | 11535 | ORPHA:480907 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TAF6 CL E G H | 6878 | 11540 | OMIM:617126 | Alazami-Yuan syndrome | . | | | 5 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | . | | | 34 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040284 - Very rare | | | 13 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TMCO1 CL E G H | 54499 | 18188 | ORPHA:1394 | Cerebrofaciothoracic dysplasia | HP:0040282 - Frequent | | | 6 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | . | | | 6 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | . | | | 1 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | | | | 6 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TRAPPC10 CL E G H | 7109 | 11868 | OMIM:620027 | | | | | 1 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 158 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TRAPPC9 CL E G H | 83696 | 30832 | OMIM:613192 | Mental retardation, autosomal recessive 13 | HP:0040283 - Occasional | | | 158 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TRIM8 CL E G H | 81603 | 15579 | OMIM:619428 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS | | | | 1 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | . | | | 8 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TRMT1 CL E G H | 55621 | 25980 | OMIM:618302 | Intellectual developmental disorder, autosomal recessive 68 | . | | | 1 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TTI2 CL E G H | 80185 | 26262 | OMIM:615541 | Mental retardation, autosomal recessive 39 | . | | | 11 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TTI2 CL E G H | 80185 | 26262 | ORPHA:391307 | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | TUBGCP2 CL E G H | 10844 | 18599 | OMIM:618737 | PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040282 - Frequent | | | 7 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | UGDH CL E G H | 7358 | 12525 | OMIM:618792 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84 | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | UQCC2 CL E G H | 84300 | 21237 | OMIM:615824 | Mitochondrial complex III deficiency, nuclear type 7 | . | | | 7 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | | | | 20 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | HP:0040283 - Occasional | | | 20 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | HP:0040283 - Occasional | | | 20 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | WNT4 CL E G H | 54361 | 12783 | ORPHA:247768 | Müllerian aplasia and hyperandrogenism | HP:0040283 - Occasional | | | 4 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | . | | | 14 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | XYLT1 CL E G H | 64131 | 15516 | ORPHA:370930 | XYLT1-CDG | HP:0040282 - Frequent | | | 14 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | ZBTB20 CL E G H | 26137 | 13503 | ORPHA:3042 | Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | HP:0040282 - Frequent | | | 17 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | . | | | 17 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | ZIC2 CL E G H | 7546 | 12873 | OMIM:609637 | Holoprosencephaly 5 | | | | 34 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | ZMYND11 CL E G H | 10771 | 16966 | OMIM:616083 | Mental retardation, autosomal dominant 30 | | | | 24 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | ZNF292 CL E G H | 23036 | 18410 | OMIM:619188 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64 | | | | 3 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | ZNF407 CL E G H | 55628 | 19904 | OMIM:619557 | SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA | | | | 68 | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0000998 | HP:0000664 | Synophrys | 2 | ZNF711 CL E G H | 7552 | 13128 | OMIM:300803 | MENTAL RETARDATION, X-LINKED 97; MRX97 | | | | 34 | | |