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:0012450 | HP:0012450 | Chronic constipation | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040284 - Very rare | | | 9 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | | | | 120 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | CNP CL E G H | 1267 | 2158 | OMIM:619071 | LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20 | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 373 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 660 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 325 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | DDOST CL E G H | 1650 | 2728 | OMIM:614507 | Congenital disorder of glycosylation, type IR | | | | 62 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 2 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 2 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | EIF5A CL E G H | 1984 | 3300 | OMIM:619376 | FAUNDES-BANKA SYNDROME; FABAS | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | . | | | 172 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:618333 | MENKE-HENNEKAM SYNDROME 2; MKHK2 | | | | 250 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | ERBB2 CL E G H | 2064 | 3430 | OMIM:619465 | VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2 | | | | 77 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | FAR1 CL E G H | 84188 | 26222 | OMIM:619338 | CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD | | | | 7 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | FGF12 CL E G H | 2257 | 3668 | OMIM:617166 | Epileptic encephalopathy, early infantile, 47 | . | | | 3 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 8 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | GRIA1 CL E G H | 2890 | 4571 | OMIM:619931 | | | | | 3 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | H1-4 CL E G H | 3008 | 4718 | OMIM:617537 | Rahman syndrome | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | H3-3B CL E G H | 3021 | 4765 | OMIM:619721 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2 | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | IGBP1 CL E G H | 3476 | 5461 | OMIM:300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | | | | 5 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | | | | 2 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | LBX1 CL E G H | 10660 | 16960 | OMIM:619483 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3 | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | LMNB1 CL E G H | 4001 | 6637 | OMIM:619179 | MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26 | | | | 44 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | LMNB2 CL E G H | 84823 | 6638 | OMIM:619180 | MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27 | | | | 11 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 221 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 63 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | MED13 CL E G H | 9969 | 22474 | OMIM:618009 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61 | | | | 4 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | . | | | 1 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | MLYCD CL E G H | 23417 | 7150 | OMIM:248360 | Malonyl-CoA decarboxylase deficiency | . | | | 80 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | MNX1 CL E G H | 3110 | 4979 | OMIM:176450 | Currarino syndrome | . | | | 17 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | HP:0040283 - Occasional | | | 37 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | MSL3 CL E G H | 10943 | 7370 | OMIM:301032 | BASILICATA-AKHTAR SYNDROME; MRXSBA | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | MYH11 CL E G H | 4629 | 7569 | OMIM:619350 | VISCERAL MYOPATHY 2; VSCM2 | | | | 418 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | MYO1H CL E G H | 283446 | 13879 | OMIM:619482 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2 | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | | | | 214 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | OTUD6B CL E G H | 51633 | 24281 | ORPHA:505237 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | | | | 4 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | PAK2 CL E G H | 5062 | 8591 | OMIM:618458 | | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | PHOX2B CL E G H | 8929 | 9143 | OMIM:209880 | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | | | | 86 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | POU4F1 CL E G H | 5457 | 9218 | OMIM:619352 | ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | PPP2R1A CL E G H | 5518 | 9302 | OMIM:616362 | Mental retardation, autosomal dominant 36 | | | | 13 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | RORA CL E G H | 6095 | 10258 | OMIM:618060 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA | | | | 1 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | SETD1A CL E G H | 9739 | 29010 | OMIM:619056 | NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID | | | | 6 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | SETD5 CL E G H | 55209 | 25566 | ORPHA:404440 | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | HP:0040283 - Occasional | | | 43 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261222 | Distal 16p11.2 microdeletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | SLC12A2 CL E G H | 6558 | 10911 | OMIM:619080 | KILQUIST SYNDROME; KILQS | | | | 2 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | SLC38A3 CL E G H | 10991 | 18044 | OMIM:619881 | | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | SMO CL E G H | 6608 | 11119 | OMIM:601707 | Curry-Jones syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 65 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | SPATA5 CL E G H | 166378 | 18119 | OMIM:616577 | Epilepsy, hearing loss, and mental retardation syndrome | | | | 19 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | TANC2 CL E G H | 26115 | 30212 | OMIM:618906 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | TNFRSF1A CL E G H | 7132 | 11916 | OMIM:142680 | Periodic fever, familial, autosomal dominant | | | | 131 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | TRIM8 CL E G H | 81603 | 15579 | OMIM:619428 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS | | | | 1 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:618825 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63 | | | | 8 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | | | | 8 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040282 - Frequent | | | 7 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | UPF3B CL E G H | 65109 | 20439 | OMIM:300676 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14 | | | | 33 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300919 | MENTAL RETARDATION, X-LINKED 99; MRX99 | | | | 27 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 37 | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | WASF1 CL E G H | 8936 | 12732 | OMIM:618707 | NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS | | | | | | |
HP:0012450 | HP:0012450 | Chronic constipation | 0 | ZNF292 CL E G H | 23036 | 18410 | OMIM:619188 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64 | | | | 3 | | |