Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AARS1 CL E G H | 16 | 20 | OMIM:616339 | Epileptic encephalopathy, early infantile, 29 | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AARS1 CL E G H | 16 | 20 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AARS2 CL E G H | 57505 | 21022 | OMIM:614096 | Combined oxidative phosphorylation deficiency 8 | . | | | 143 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | HP:0040283 - Occasional | | | 15 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 130 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ABCA3 CL E G H | 21 | 33 | OMIM:610921 | Surfactant metabolism dysfunction, pulmonary, 3 | . | | | 147 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ABCB11 CL E G H | 8647 | 42 | OMIM:601847 | Cholestasis, progressive familial intrahepatic 2 | . | | | 146 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | | | | 415 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 245 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040283 - Occasional | | | 245 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:388 | Hirschsprung disease | | | | 135 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | | | | 53 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ABL1 CL E G H | 25 | 76 | OMIM:617602 | Congenital heart defects and skeletal malformations syndrome | . | | | 51 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | HP:0040282 - Frequent | | | 98 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ACADS CL E G H | 35 | 90 | OMIM:201470 | Acyl-Coa dehydrogenase, short-chain, deficiency of | . | | | 90 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ACADS CL E G H | 35 | 90 | ORPHA:26792 | Short chain acyl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 90 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ACD CL E G H | 65057 | 25070 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ACO2 CL E G H | 50 | 118 | OMIM:614559 | INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD | | | | 60 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ACOX1 CL E G H | 51 | 119 | ORPHA:2971 | Peroxisomal acyl-CoA oxidase deficiency | HP:0040282 - Frequent | | | 120 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ACSF3 CL E G H | 197322 | 27288 | ORPHA:289504 | Combined malonic and methylmalonic acidemia | HP:0040283 - Occasional | | | 68 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ACSF3 CL E G H | 197322 | 27288 | OMIM:614265 | Combined malonic and methylmalonic aciduria | . | | | 68 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 96 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | . | | | 72 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040281 - Very frequent | | | 123 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ACTL6B CL E G H | 51412 | 160 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ACVR1 CL E G H | 90 | 171 | ORPHA:337 | Fibrodysplasia ossificans progressiva | HP:0040283 - Occasional | | | 49 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 75 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ADA CL E G H | 100 | 186 | ORPHA:277 | Severe combined immunodeficiency due to adenosine deaminase deficiency | HP:0040282 - Frequent | | | 75 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | . | | | 75 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ADAM17 CL E G H | 6868 | 195 | OMIM:614328 | INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1 | | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ADAR CL E G H | 103 | 225 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | 116 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ADAT3 CL E G H | 113179 | 25151 | OMIM:615286 | Mental retardation, autosomal recessive 36 | . | | | 9 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ADCY5 CL E G H | 111 | 236 | OMIM:619651 | NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD | | | | 25 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ADH5 CL E G H | 128 | 253 | OMIM:619151 | AMED SYNDROME, DIGENIC; AMEDS | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ADK CL E G H | 132 | 257 | OMIM:614300 | Hypermethioninemia due to adenosine kinase deficiency | . | | | 26 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AGPAT2 CL E G H | 10555 | 325 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 85 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AGPS CL E G H | 8540 | 327 | OMIM:600121 | Rhizomelic chondrodysplasia punctata, type 3 | . | | | 117 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | . | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AGXT CL E G H | 189 | 341 | ORPHA:93598 | Primary hyperoxaluria type 1 | HP:0040282 - Frequent | | | 260 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AHCY CL E G H | 191 | 343 | OMIM:613752 | HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY | . | | | 31 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | HP:0040282 - Frequent | | | 31 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AHDC1 CL E G H | 27245 | 25230 | ORPHA:412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AHDC1 CL E G H | 27245 | 25230 | OMIM:615829 | Xia-Gibbs syndrome | . | | | 36 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AIMP1 CL E G H | 9255 | 10648 | OMIM:260600 | Leukodystrophy, hypomyelinating, 3 | . | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AK2 CL E G H | 204 | 362 | ORPHA:33355 | Reticular dysgenesis | HP:0040282 - Frequent | | | 19 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AKR1D1 CL E G H | 6718 | 388 | OMIM:235555 | Bile acid synthesis defect, congenital, 2 | . | | | 62 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AKR1D1 CL E G H | 6718 | 388 | ORPHA:79303 | Congenital bile acid synthesis defect type 2 | | | | 62 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ALAD CL E G H | 210 | 395 | OMIM:612740 | Porphyria, acute hepatic | . | | | 62 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | . | | | 89 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ALDOB CL E G H | 229 | 417 | OMIM:229600 | Fructose intolerance, hereditary | . | | | 73 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ALG11 CL E G H | 440138 | 32456 | ORPHA:280071 | ALG11-CDG | HP:0040283 - Occasional | | | 41 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040282 - Frequent | | | 68 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | | | | 68 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | . | | | 37 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ALG6 CL E G H | 29929 | 23157 | ORPHA:79320 | ALG6-CDG | HP:0040282 - Frequent | | | 66 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | HP:0040283 - Occasional | | | 46 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | . | | | 46 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | | | | 93 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ALOX12B CL E G H | 242 | 430 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 75 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 63 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ALPL CL E G H | 249 | 438 | OMIM:241500 | Hypophosphatasia, infantile | . | | | 126 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AMACR CL E G H | 23600 | 451 | OMIM:214950 | Bile acid synthesis defect, congenital, 4 | . | | | 44 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | . | | | 34 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AMN CL E G H | 81693 | 14604 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ANO1 CL E G H | 55107 | 21625 | OMIM:620045 | | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ANTXR2 CL E G H | 118429 | 21732 | OMIM:228600 | Hyaline fibromatosis syndrome | | | | 49 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ANTXR2 CL E G H | 118429 | 21732 | ORPHA:2176 | Infantile systemic hyalinosis | HP:0040281 - Very frequent | | | 49 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AP3B2 CL E G H | 8120 | 567 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 7 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AQP2 CL E G H | 359 | 634 | OMIM:125800 | Diabetes insipidus, nephrogenic, 2 | | | | 75 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AQP2 CL E G H | 359 | 634 | ORPHA:223 | Nephrogenic diabetes insipidus | HP:0040282 - Frequent | | | 75 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | . | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ARFGEF2 CL E G H | 10564 | 15853 | OMIM:608097 | Periventricular heterotopia with microcephaly, autosomal recessive | HP:0040283 - Occasional | | | 179 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | HP:0040281 - Very frequent | | | 147 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:251056 | 6q25 microdeletion syndrome | HP:0040282 - Frequent | | | 219 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ARPC1B CL E G H | 10095 | 704 | OMIM:617718 | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ARV1 CL E G H | 64801 | 29561 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 166 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040282 - Frequent | | | 78 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:228000 | Farber lipogranulomatosis | . | | | 78 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ASCL1 CL E G H | 429 | 738 | ORPHA:99803 | Haddad syndrome | HP:0040281 - Very frequent | | | 15 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ASL CL E G H | 435 | 746 | OMIM:207900 | Argininosuccinic aciduria | . | | | 81 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ASNS CL E G H | 440 | 753 | OMIM:615574 | Asparagine synthetase deficiency | . | | | 17 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ASS1 CL E G H | 445 | 758 | OMIM:215700 | Citrullinemia, classic | . | | | 119 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | . | | | 145 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATM CL E G H | 472 | 795 | ORPHA:100 | Ataxia-telangiectasia | HP:0040283 - Occasional | | | 3267 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 239 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 239 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 150 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 150 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATP5F1A CL E G H | 498 | 823 | OMIM:616045 | Combined oxidative phosphorylation deficiency 22 | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 140 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:219200 | Cutis laxa, autosomal recessive, type IIA | . | | | 140 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | . | | | 140 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATP6V0A4 CL E G H | 50617 | 866 | OMIM:602722 | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR | | | | 64 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:617403 | Cutis laxa, autosomal recessive, type IID | . | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATP6V1E1 CL E G H | 529 | 857 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:388 | Hirschsprung disease | | | | 192 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | HP:0040281 - Very frequent | | | 315 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:211600 | Cholestasis, progressive familial intrahepatic 1 | . | | | 144 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATPAF2 CL E G H | 91647 | 18802 | OMIM:604273 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 1 | . | | | 32 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ATXN7 CL E G H | 6314 | 10560 | ORPHA:94147 | Spinocerebellar ataxia type 7 | HP:0040282 - Frequent | | | 8 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AUH CL E G H | 549 | 890 | ORPHA:67046 | 3-methylglutaconic aciduria type 1 | HP:0040281 - Very frequent | | | 49 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AUH CL E G H | 549 | 890 | OMIM:250950 | 3-methylglutaconic aciduria, type I | . | | | 49 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AVPR2 CL E G H | 554 | 897 | OMIM:304800 | Diabetes insipidus, nephrogenic, X-linked | . | | | 67 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | AVPR2 CL E G H | 554 | 897 | ORPHA:223 | Nephrogenic diabetes insipidus | HP:0040282 - Frequent | | | 67 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:609465 | AL-GAZALI SYNDROME | | | | 38 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:93359 | Spondyloepimetaphyseal dysplasia with joint laxity | HP:0040281 - Very frequent | | | 38 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | . | | | 29 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | BANF1 CL E G H | 8815 | 17397 | OMIM:614008 | Nestor-Guillermo progeria syndrome | . | | | 22 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | BCAP31 CL E G H | 10134 | 16695 | OMIM:300475 | Deafness, dystonia, and cerebral hypomyelination | . | | | 8 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | BCAP31 CL E G H | 10134 | 16695 | ORPHA:369939 | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:124000 | Mitochondrial complex III deficiency, nuclear type 1 | . | | | 72 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | BLNK CL E G H | 29760 | 14211 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040282 - Frequent | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | BMPR1A CL E G H | 657 | 1076 | OMIM:174900 | Juvenile polyposis syndrome | HP:0040282 - Frequent | | | 385 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 276 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | BRCA1 CL E G H | 672 | 1100 | OMIM:617883 | Fanconi anemia, complementation group S | . | | | 5769 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | BRCA2 CL E G H | 675 | 1101 | OMIM:605724 | Fanconi anemia, complementation group D1 | | | | 7642 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 105 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | . | | | 53 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040282 - Frequent | | | 53 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | HP:0040281 - Very frequent | | | 109 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | C2ORF69 CL E G H | 205327 | 26799 | OMIM:619423 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CA12 CL E G H | 771 | 1371 | OMIM:143860 | Hyperchlorhidrosis, isolated | . | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | HP:0040281 - Very frequent | | | 29 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 449 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 449 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CACNA1B CL E G H | 774 | 1389 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 5 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CACNA2D1 CL E G H | 781 | 1399 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 59 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CAMKMT CL E G H | 79823 | 26276 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CARS1 CL E G H | 833 | 1493 | OMIM:618891 | MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CARS2 CL E G H | 79587 | 25695 | OMIM:616672 | Combined oxidative phosphorylation deficiency 27 | . | | | 35 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 118 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:163937 | X-linked intellectual disability, Najm type | HP:0040283 - Occasional | | | 118 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CASP8 CL E G H | 841 | 1509 | OMIM:607271 | CASPASE 8 DEFICIENCY | | | | 37 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CASR CL E G H | 846 | 1514 | OMIM:239200 | Hyperparathyroidism, neonatal severe | . | | | 272 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CAV1 CL E G H | 857 | 1527 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 11 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:606721 | Lipodystrophy, familial partial, type 7 | | | | 11 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CAVIN1 CL E G H | 284119 | 9688 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 48 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | . | | | 48 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CBS CL E G H | 875 | 1550 | OMIM:236200 | Homocystinuria due to cystathionine beta-synthase deficiency | HP:0040283 - Occasional | | | 242 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CD19 CL E G H | 930 | 1633 | ORPHA:1572 | Common variable immunodeficiency | | | | 38 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 8 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CD3D CL E G H | 915 | 1673 | OMIM:615617 | Immunodeficiency 19 | . | | | 18 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | HP:0040283 - Occasional | | | 19 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CD79A CL E G H | 973 | 1698 | OMIM:613501 | Agammaglobulinemia 3, autosomal recessive | . | | | 9 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CD79A CL E G H | 973 | 1698 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040282 - Frequent | | | 9 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CD79B CL E G H | 974 | 1699 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040282 - Frequent | | | 6 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CD81 CL E G H | 975 | 1701 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | . | | | 83 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | | | | 83 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CDC45 CL E G H | 8318 | 1739 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CDC6 CL E G H | 990 | 1744 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CDC6 CL E G H | 990 | 1744 | OMIM:613805 | Meier-Gorlin syndrome 5 | . | | | 31 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CDK19 CL E G H | 23097 | 19338 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 405 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 200 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 200 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040281 - Very frequent | | | 200 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 200 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CDT1 CL E G H | 81620 | 24576 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CDT1 CL E G H | 81620 | 24576 | OMIM:613804 | Meier-Gorlin syndrome 4 | . | | | 50 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CEACAM3 CL E G H | 1084 | 1815 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CEACAM6 CL E G H | 4680 | 1818 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CELF2 CL E G H | 10659 | 2550 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CENPT CL E G H | 80152 | 25787 | OMIM:618702 | SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CERS3 CL E G H | 204219 | 23752 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 5 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:586 | Cystic fibrosis | | | | 1371 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CFTR CL E G H | 1080 | 1884 | OMIM:219700 | Cystic fibrosis | | | | 1371 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CHRM3 CL E G H | 1131 | 1952 | ORPHA:2970 | Prune belly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CHRNA3 CL E G H | 1136 | 1957 | OMIM:191800 | URINARY BLADDER, ATONY OF | | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CHRNG CL E G H | 1146 | 1967 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CIITA CL E G H | 4261 | 7067 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 118 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 118 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CIT CL E G H | 11113 | 1985 | OMIM:617090 | Microcephaly 17, primary, autosomal recessive | . | | | 15 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CLCA4 CL E G H | 22802 | 2018 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CLCNKA CL E G H | 1187 | 2026 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 9 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040282 - Frequent | | | 9 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CLCNKB CL E G H | 1188 | 2027 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 27 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040282 - Frequent | | | 27 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CLDN16 CL E G H | 10686 | 2037 | OMIM:248250 | Hypomagnesemia 3, renal | . | | | 58 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CLMP CL E G H | 79827 | 24039 | OMIM:615237 | Congenital short bowel syndrome | . | | | 7 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CLTC CL E G H | 1213 | 2092 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CNKSR2 CL E G H | 22866 | 19701 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 18 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | HP:0040282 - Frequent | | | 52 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | | | | 52 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | | | | 67 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:613489 | Congenital disorder of glycosylation, type IIj | HP:0040283 - Occasional | | | 67 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COG7 CL E G H | 91949 | 18622 | ORPHA:79333 | COG7-CDG | | | | 64 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COG8 CL E G H | 84342 | 18623 | ORPHA:95428 | COG8-CDG | HP:0040282 - Frequent | | | 39 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COG8 CL E G H | 84342 | 18623 | OMIM:611182 | Congenital disorder of glycosylation, type IIh | | | | 39 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:536516 | Myopathic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040282 - Frequent | | | 678 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040282 - Frequent | | | 18 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 442 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 478 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 702 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | HP:0040282 - Frequent | | | 263 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COPB2 CL E G H | 9276 | 2232 | OMIM:617800 | Microcephaly 19, primary, autosomal recessive | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COX10 CL E G H | 1352 | 2260 | OMIM:619046 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3 | | | | 82 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COX15 CL E G H | 1355 | 2263 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 104 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COX4I1 CL E G H | 1327 | 2265 | OMIM:619060 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COX4I2 CL E G H | 84701 | 16232 | OMIM:612714 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis | . | | | 13 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COX5A CL E G H | 9377 | 2267 | OMIM:619064 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CPS1 CL E G H | 1373 | 2323 | OMIM:237300 | Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to | . | | | 124 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CPSF3 CL E G H | 51692 | 2326 | OMIM:619876 | | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CR2 CL E G H | 1380 | 2336 | ORPHA:1572 | Common variable immunodeficiency | | | | 10 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | HP:0040282 - Frequent | | | 291 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040282 - Frequent | | | 291 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CSF2RA CL E G H | 1438 | 2435 | ORPHA:264675 | Hereditary pulmonary alveolar proteinosis | | | | 15 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CSF2RA CL E G H | 1438 | 2435 | OMIM:300770 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4 | | | | 15 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CSF2RB CL E G H | 1439 | 2436 | ORPHA:264675 | Hereditary pulmonary alveolar proteinosis | | | | 17 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CSNK2A1 CL E G H | 1457 | 2457 | OMIM:617062 | Okur-Chung neurodevelopmental syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040282 - Frequent | | | 57 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | HP:0040282 - Frequent | | | 20 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411629 | Infantile nephropathic cystinosis | HP:0040281 - Very frequent | | | 178 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | HP:0040284 - Very rare | | | 178 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CUBN CL E G H | 8029 | 2548 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | HP:0040283 - Occasional | | | 273 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CUL3 CL E G H | 8452 | 2553 | OMIM:619239 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS | | | | 92 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CYB5A CL E G H | 1528 | 2570 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040283 - Occasional | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CYC1 CL E G H | 1537 | 2579 | OMIM:615453 | Mitochondrial complex III deficiency, nuclear type 6 | | | | 12 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CYFIP2 CL E G H | 26999 | 13760 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:203400 | Corticosterone methyloxidase type I deficiency | . | | | 73 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:556030 | Early-onset familial hypoaldosteronism | HP:0040281 - Very frequent | | | 73 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:610600 | Hypoaldosteronism, congenital, due to CMO II deficiency | | | | 73 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040283 - Occasional | | | 53 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040283 - Occasional | | | 53 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CYP24A1 CL E G H | 1591 | 2602 | OMIM:143880 | Hypercalcemia, infantile, 1 | . | | | 73 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 41 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | . | | | 41 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 5 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CYP2R1 CL E G H | 120227 | 20580 | OMIM:600081 | Vitamin D hydroxylation-deficient rickets, type 1B | . | | | 5 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:613812 | Bile acid synthesis defect, congenital, 3 | . | | | 57 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:137675 | Histiocytoid cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DACT1 CL E G H | 51339 | 17748 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DALRD3 CL E G H | 55152 | 25536 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | . | | | 94 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 94 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | . | | | 94 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DCTN4 CL E G H | 51164 | 15518 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 30 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DDOST CL E G H | 1650 | 2728 | OMIM:614507 | Congenital disorder of glycosylation, type IR | . | | | 62 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DDOST CL E G H | 1650 | 2728 | ORPHA:300536 | DDOST-CDG | HP:0040281 - Very frequent | | | 62 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | | | | 33 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DEGS1 CL E G H | 8560 | 13709 | OMIM:618404 | Leukodystrophy, hypomyelinating, 18 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DGAT1 CL E G H | 8694 | 2843 | OMIM:615863 | Diarrhea 7, protein-losing Enteropathy type | . | | | 9 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | . | | | 57 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | . | | | 72 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DHCR24 CL E G H | 1718 | 2859 | ORPHA:35107 | Desmosterolosis | HP:0040281 - Very frequent | | | 72 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 47 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DHDDS CL E G H | 79947 | 20603 | OMIM:613861 | Retinitis pigmentosa 59 | . | | | 47 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 22 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 22 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 22 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DLD CL E G H | 1738 | 2898 | ORPHA:2394 | Pyruvate dehydrogenase E3 deficiency | HP:0040283 - Occasional | | | 89 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:617052 | Bone marrow failure syndrome 3 | . | | | 5 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 5 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DNASE2 CL E G H | 1777 | 2960 | OMIM:619858 | | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DNM1 CL E G H | 1759 | 2972 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 72 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | . | | | 94 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | . | | | 79 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | HP:0040281 - Very frequent | | | 18 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DOLK CL E G H | 22845 | 23406 | OMIM:610768 | Congenital disorder of glycosylation, type Im | . | | | 55 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DOLK CL E G H | 22845 | 23406 | ORPHA:91131 | DK1-CDG | | | | 55 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040282 - Frequent | | | 38 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | . | | | 27 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | HP:0040282 - Frequent | | | 27 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DPM2 CL E G H | 8818 | 3006 | ORPHA:329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | HP:0040282 - Frequent | | | 26 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DPYD CL E G H | 1806 | 3012 | OMIM:274270 | Dihydropyrimidine dehydrogenase deficiency | . | | | 144 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DSP CL E G H | 1832 | 3052 | OMIM:607655 | Skin fragility-woolly hair syndrome | . | | | 747 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040281 - Very frequent | | | 65 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DYNC2I1 CL E G H | 55112 | 21862 | OMIM:615503 | Short rib-polydactyly syndrome, type VI | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | | | | 134 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | HP:0040282 - Frequent | | | 134 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | DYRK1A CL E G H | 1859 | 3091 | OMIM:614104 | Mental retardation, autosomal dominant 7 | | | | 134 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EARS2 CL E G H | 124454 | 29419 | OMIM:614924 | Combined oxidative phosphorylation deficiency 12 | . | | | 80 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | . | | | 51 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:401973 | MEND syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ECE1 CL E G H | 1889 | 3146 | ORPHA:388 | Hirschsprung disease | | | | 13 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ECHS1 CL E G H | 1892 | 3151 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 33 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EDN3 CL E G H | 1908 | 3178 | ORPHA:388 | Hirschsprung disease | | | | 67 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EDNRA CL E G H | 1909 | 3179 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EDNRB CL E G H | 1910 | 3180 | ORPHA:388 | Hirschsprung disease | | | | 55 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EEF1A2 CL E G H | 1917 | 3192 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 60 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EFL1 CL E G H | 79631 | 25789 | OMIM:617941 | Shwachman-Diamond syndrome 2 | . | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EGFR CL E G H | 1956 | 3236 | OMIM:616069 | Inflammatory skin and bowel disease, neonatal, 2 | . | | | 257 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | HP:0040283 - Occasional | | | 223 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040283 - Occasional | | | 223 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EIF5A CL E G H | 1984 | 3300 | OMIM:619376 | FAUNDES-BANKA SYNDROME; FABAS | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ELAC2 CL E G H | 60528 | 14198 | OMIM:615440 | Combined oxidative phosphorylation deficiency 17 | . | | | 67 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ELMO2 CL E G H | 63916 | 17233 | ORPHA:3019 | Ramon syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EN1 CL E G H | 2019 | 3342 | OMIM:619218 | ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | | | | 151 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040282 - Frequent | | | 250 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:92050 | Congenital tufting enteropathy | HP:0040281 - Very frequent | | | 170 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EPCAM CL E G H | 4072 | 11529 | OMIM:613217 | Diarrhea 5, with tufting enteropathy, congenital | . | | | 170 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ERBB2 CL E G H | 2064 | 3430 | ORPHA:388 | Hirschsprung disease | | | | 77 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ERBB3 CL E G H | 2065 | 3431 | ORPHA:388 | Hirschsprung disease | | | | 12 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ERCC1 CL E G H | 2067 | 3433 | OMIM:610758 | Cerebrooculofacioskeletal syndrome 4 | | | | 20 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 106 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 54 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040281 - Very frequent | | | 158 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 158 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:610965 | XFE progeroid syndrome | | | | 158 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 83 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | . | | | 199 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040281 - Very frequent | | | 199 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | | | | 199 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | | | | 55 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040281 - Very frequent | | | 55 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ETHE1 CL E G H | 23474 | 23287 | OMIM:602473 | Encephalopathy, ethylmalonic | . | | | 42 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ETHE1 CL E G H | 23474 | 23287 | ORPHA:51188 | Ethylmalonic encephalopathy | HP:0040282 - Frequent | | | 42 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EVC CL E G H | 2121 | 3497 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 209 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EVC2 CL E G H | 132884 | 19747 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 137 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EXOC6B CL E G H | 23233 | 17085 | ORPHA:93359 | Spondyloepimetaphyseal dysplasia with joint laxity | HP:0040281 - Very frequent | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EXOSC8 CL E G H | 11340 | 17035 | OMIM:616081 | Pontocerebellar hypoplasia, type 1C | . | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | . | | | 107 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FAM111A CL E G H | 63901 | 24725 | OMIM:602361 | Gracile bone dysplasia | . | | | 8 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040283 - Occasional | | | 1361 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | . | | | 384 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FCGR2A CL E G H | 2212 | 3616 | OMIM:219700 | Cystic fibrosis | | | | 6 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FDFT1 CL E G H | 2222 | 3629 | OMIM:618156 | SQUALENE SYNTHASE DEFICIENCY; SQSD | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FDXR CL E G H | 2232 | 3642 | ORPHA:543470 | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | . | | | 62 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FGF12 CL E G H | 2257 | 3668 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FGF13 CL E G H | 2258 | 3670 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 17 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 17 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 17 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:166250 | Osteoglophonic dysplasia | . | | | 172 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2645 | Osteoglosphonic dysplasia | | | | 172 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 172 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FH CL E G H | 2271 | 3700 | OMIM:606812 | Fumarase deficiency | . | | | 301 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:610883 | Potocki-Lupski syndrome | | | | 332 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | . | | | 493 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90652 | Otopalatodigital syndrome type 2 | HP:0040282 - Frequent | | | 493 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:261483 | Xq27.3q28 duplication syndrome | HP:0040281 - Very frequent | | | 30 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FOS CL E G H | 2353 | 3796 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 48 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 48 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 48 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome | HP:0040282 - Frequent | | | 184 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FOXP1 CL E G H | 27086 | 3823 | OMIM:613670 | Mental retardation with language impairment and with or without autistic features | | | | 184 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | | | | 32 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 61 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 61 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FTO CL E G H | 79068 | 24678 | OMIM:612938 | Growth retardation, developmental delay, coarse facies, and earlydeath | . | | | 70 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FUCA1 CL E G H | 2517 | 4006 | ORPHA:349 | Fucosidosis | HP:0040281 - Very frequent | | | 43 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FUT8 CL E G H | 2530 | 4019 | OMIM:618005 | Congenital disorder of glycosylation with defective fucosylation 1 | . | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | FZR1 CL E G H | 51343 | 24824 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | . | | | 37 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GAA CL E G H | 2548 | 4065 | ORPHA:308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | HP:0040281 - Very frequent | | | 407 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 5 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GABRA2 CL E G H | 2555 | 4076 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GABRA5 CL E G H | 2558 | 4079 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GABRB2 CL E G H | 2561 | 4082 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 44 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 139 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | HP:0040282 - Frequent | | | 160 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GALC CL E G H | 2581 | 4115 | OMIM:245200 | Krabbe disease | . | | | 160 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GALE CL E G H | 2582 | 4116 | OMIM:230350 | Galactose epimerase deficiency | . | | | 52 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GALK1 CL E G H | 2584 | 4118 | ORPHA:79237 | Galactokinase deficiency | HP:0040284 - Very rare | | | 23 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GALM CL E G H | 130589 | 24063 | ORPHA:570422 | Galactose mutarotase deficiency | HP:0040284 - Very rare | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GALT CL E G H | 2592 | 4135 | OMIM:230400 | GALACTOSEMIA | . | | | 351 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | . | | | 37 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GATM CL E G H | 2628 | 4175 | OMIM:612718 | Cerebral creatine deficiency syndrome 3 | . | | | 86 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:230900 | Gaucher disease, type II | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GBE1 CL E G H | 2632 | 4180 | OMIM:232500 | Glycogen storage disease IV | . | | | 86 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GCDH CL E G H | 2639 | 4189 | OMIM:231670 | Glutaric acidemia I | . | | | 115 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 237 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GCLC CL E G H | 2729 | 4311 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GDNF CL E G H | 2668 | 4232 | ORPHA:388 | Hirschsprung disease | | | | 59 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GFAP CL E G H | 2670 | 4235 | ORPHA:363717 | Alexander disease type I | | | | 188 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GGPS1 CL E G H | 9453 | 4249 | OMIM:619518 | MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | . | | | 68 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230600 | Gm1-gangliosidosis, type II | | | | 120 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GLI1 CL E G H | 2735 | 4317 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 173 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 173 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 173 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GLUD1 CL E G H | 2746 | 4335 | OMIM:606762 | Hyperinsulinemic hypoglycemia, familial, 6 | | | | 56 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GLYCTK CL E G H | 132158 | 24247 | OMIM:220120 | D-GLYCERIC ACIDURIA | . | | | 6 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GMNN CL E G H | 51053 | 17493 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GMNN CL E G H | 51053 | 17493 | OMIM:616835 | Meier-Gorlin syndrome 6 | | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 36 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GNB1 CL E G H | 2782 | 4396 | ORPHA:488613 | Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | . | | | 12 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GNPAT CL E G H | 8443 | 4416 | OMIM:222765 | Rhizomelic chondrodysplasia punctata, type 2 | . | | | 58 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GPIHBP1 CL E G H | 338328 | 24945 | OMIM:615947 | Hyperlipoproteinemia, type ID | . | | | 12 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GPR161 CL E G H | 23432 | 23694 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GPT2 CL E G H | 84706 | 18062 | OMIM:616281 | Mental retardation, autosomal recessive 49 | . | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GPT2 CL E G H | 84706 | 18062 | ORPHA:477673 | Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GRIA4 CL E G H | 2893 | 4574 | OMIM:617864 | Neurodevelopmental disorder with or without seizures and gait abnormalities | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 108 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GRIN2D CL E G H | 2906 | 4588 | OMIM:617162 | Epileptic encephalopathy, early infantile, 46 | . | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GRIN2D CL E G H | 2906 | 4588 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 5 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GSTM3 CL E G H | 2947 | 4635 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | HP:0040284 - Very rare | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GTPBP3 CL E G H | 84705 | 14880 | ORPHA:444013 | Combined oxidative phosphorylation defect type 23 | HP:0040283 - Occasional | | | 30 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | GYS2 CL E G H | 2998 | 4707 | ORPHA:2089 | Glycogen storage disease due to hepatic glycogen synthase deficiency | HP:0040283 - Occasional | | | 100 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | HP:0040282 - Frequent | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | H3-3B CL E G H | 3021 | 4765 | OMIM:619721 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 41 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 99 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | | | | 99 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HADHA CL E G H | 3030 | 4801 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 99 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | | | | 60 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HADHB CL E G H | 3032 | 4803 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 60 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HBA1 CL E G H | 3039 | 4823 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040282 - Frequent | | | 200 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HBA2 CL E G H | 3040 | 4824 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040282 - Frequent | | | 88 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | | | | 580 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | | | | 580 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HCFC1 CL E G H | 3054 | 4839 | OMIM:309541 | Methylmalonic acidemia and homocysteinemia, Cblx type | . | | | 100 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HCN1 CL E G H | 348980 | 4845 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 54 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309162 | Sandhoff disease, juvenile form | | | | 80 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:586 | Cystic fibrosis | | | | 38 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HIBCH CL E G H | 26275 | 4908 | ORPHA:88639 | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | HP:0040282 - Frequent | | | 32 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HIKESHI CL E G H | 51501 | 26938 | OMIM:616881 | Leukodystrophy, hypomyelinating, 13 | . | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:94063 | 12q14 microdeletion syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HMOX1 CL E G H | 3162 | 5013 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HNRNPH1 CL E G H | 3187 | 5041 | OMIM:620083 | | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HPD CL E G H | 3242 | 5147 | ORPHA:2118 | Hawkinsinuria | HP:0040281 - Very frequent | | | 23 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HPD CL E G H | 3242 | 5147 | OMIM:140350 | HAWKINSINURIA | . | | | 23 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | | | | 113 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HSD11B2 CL E G H | 3291 | 5209 | OMIM:218030 | Apparent mineralocorticoid excess | . | | | 14 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HSD11B2 CL E G H | 3291 | 5209 | ORPHA:320 | Apparent mineralocorticoid excess | HP:0040282 - Frequent | | | 14 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | HP:0040283 - Occasional | | | 34 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HSD3B7 CL E G H | 80270 | 18324 | OMIM:607765 | Bile acid synthesis defect, congenital, 1 | . | | | 26 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HSD3B7 CL E G H | 80270 | 18324 | ORPHA:79301 | Congenital bile acid synthesis defect type 1 | HP:0040281 - Very frequent | | | 26 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 345 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HTRA2 CL E G H | 27429 | 14348 | OMIM:617248 | 3-methylglutaconic aciduria, type VIII | | | | 39 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HYMAI CL E G H | 57061 | 5326 | OMIM:601410 | Diabetes mellitus, transient neonatal, 1 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | HYMAI CL E G H | 57061 | 5326 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040283 - Occasional | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IARS1 CL E G H | 3376 | 5330 | OMIM:617093 | Growth retardation, impaired intellectual development, hypotonia, and hepatopathy | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ICOS CL E G H | 29851 | 5351 | ORPHA:1572 | Common variable immunodeficiency | | | | 32 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:618963 | IMMUNODEFICIENCY 69; IMD69 | | | | 23 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IGF1 CL E G H | 3479 | 5464 | ORPHA:73272 | Growth delay due to insulin-like growth factor type 1 deficiency | HP:0040281 - Very frequent | | | 91 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | HP:0040282 - Frequent | | | 9 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | . | | | 7 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IGHM CL E G H | 3507 | 5541 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040282 - Frequent | | | 7 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | . | | | 209 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IGLL1 CL E G H | 3543 | 5870 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040282 - Frequent | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IKBKB CL E G H | 3551 | 5960 | OMIM:615592 | Immunodeficiency 15 | . | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IL1RN CL E G H | 3557 | 6000 | OMIM:612852 | Interleukin 1 receptor antagonist deficiency | | | | 40 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IL21 CL E G H | 59067 | 6005 | OMIM:615767 | IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11 | | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IL21R CL E G H | 50615 | 6006 | OMIM:615207 | IMMUNODEFICIENCY 56; IMD56 | | | | 7 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 65 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040283 - Occasional | | | 48 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 94 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IL7R CL E G H | 3575 | 6024 | OMIM:608971 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive | | | | 94 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040282 - Frequent | | | 94 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | INS CL E G H | 3630 | 6081 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 62 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | | | | 229 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | HP:0040282 - Frequent | | | 229 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | | | | 119 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:1572 | Common variable immunodeficiency | | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | | | | 5 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ITCH CL E G H | 83737 | 13890 | OMIM:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD | | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 127 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | JAGN1 CL E G H | 84522 | 26926 | OMIM:616022 | Neutropenia, severe congenital, 6, autosomal recessive | HP:0040283 - Occasional | | | 8 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | JAK1 CL E G H | 3716 | 6190 | OMIM:618999 | AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE | | | | 12 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | JAK3 CL E G H | 3718 | 6193 | OMIM:600802 | Scid, autosomal recessive, T-Negative/b-Positive type | | | | 140 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | . | | | 283 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KAT6B CL E G H | 23522 | 17582 | ORPHA:3047 | Blepharophimosis-intellectual disability syndrome, SBBYS type | HP:0040282 - Frequent | | | 141 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 145 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KCNA2 CL E G H | 3737 | 6220 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KCNB1 CL E G H | 3745 | 6231 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | . | | | 51 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 127 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040283 - Occasional | | | 127 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KCNJ6 CL E G H | 3763 | 6267 | ORPHA:435628 | Keppen-Lubinsky syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KCNJ6 CL E G H | 3763 | 6267 | OMIM:614098 | Keppen-Lubinsky syndrome | . | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KDM5C CL E G H | 8242 | 11114 | OMIM:300534 | Mental retardation, X-linked, syndromic, Claes-Jensen type | | | | 81 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | HP:0040282 - Frequent | | | 53 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040282 - Frequent | | | 24 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | . | | | 202 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 167 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KMT2A CL E G H | 4297 | 7132 | OMIM:605130 | Wiedemann-Steiner syndrome | . | | | 91 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | HP:0040283 - Occasional | | | 91 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KMT2C CL E G H | 58508 | 13726 | ORPHA:261652 | Kleefstra syndrome due to a point mutation | HP:0040283 - Occasional | | | 99 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | HP:0040282 - Frequent | | | 660 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 196 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:3339 | Toriello-Lacassie-Droste syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040283 - Occasional | | | 110 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:89838 | Autosomal recessive generalized epidermolysis bullosa simplex | HP:0040283 - Occasional | | | 110 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2309 | Pachyonychia congenita | HP:0040283 - Occasional | | | 27 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KRT17 CL E G H | 3872 | 6427 | ORPHA:2309 | Pachyonychia congenita | HP:0040283 - Occasional | | | 23 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040283 - Occasional | | | 173 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KRT6A CL E G H | 3853 | 6443 | ORPHA:2309 | Pachyonychia congenita | HP:0040283 - Occasional | | | 41 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | KRT6B CL E G H | 3854 | 6444 | ORPHA:2309 | Pachyonychia congenita | HP:0040283 - Occasional | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LAMA3 CL E G H | 3909 | 6483 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | . | | | 116 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 116 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LAMB3 CL E G H | 3914 | 6490 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | . | | | 167 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 167 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LAMC2 CL E G H | 3918 | 6493 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | . | | | 135 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040281 - Very frequent | | | 135 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LARS1 CL E G H | 51520 | 6512 | OMIM:615438 | Infantile liver failure syndrome 1 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | . | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LCK CL E G H | 3932 | 6524 | OMIM:615758 | Immunodeficiency 22 | . | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:94063 | 12q14 microdeletion syndrome | HP:0040281 - Very frequent | | | 68 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LGI3 CL E G H | 203190 | 18711 | OMIM:620007 | | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LIG4 CL E G H | 3981 | 6601 | OMIM:606593 | Lig4 syndrome | . | | | 88 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 88 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LINS1 CL E G H | 55180 | 30922 | OMIM:614340 | Mental retardation, autosomal recessive 27 | | | | 25 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LIPT1 CL E G H | 51601 | 29569 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 21 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LMBRD1 CL E G H | 55788 | 23038 | ORPHA:79284 | Methylmalonic acidemia with homocystinuria type cblF | HP:0040282 - Frequent | | | 46 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LMBRD1 CL E G H | 55788 | 23038 | OMIM:277380 | Methylmalonic aciduria and homocystinuria, Cblf type | . | | | 46 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | | | | 645 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:613205 | Muscular dystrophy, congenital, lmna-related | . | | | 645 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LMNB1 CL E G H | 4001 | 6637 | OMIM:619179 | MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26 | | | | 44 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LPIN2 CL E G H | 9663 | 14450 | ORPHA:77297 | Majeed syndrome | HP:0040282 - Frequent | | | 186 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LPIN2 CL E G H | 9663 | 14450 | OMIM:609628 | MAJEED SYNDROME; MJDS | | | | 186 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | HP:0040281 - Very frequent | | | 191 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LRPPRC CL E G H | 10128 | 15714 | OMIM:220111 | Leigh syndrome, french Canadian type | . | | | 191 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LRRC8A CL E G H | 56262 | 19027 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040282 - Frequent | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LRRK1 CL E G H | 79705 | 18608 | OMIM:615198 | Osteosclerotic metaphyseal dysplasia | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LTC4S CL E G H | 4056 | 6719 | OMIM:614037 | LEUKOTRIENE C4 SYNTHASE DEFICIENCY | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LYRM4 CL E G H | 57128 | 21365 | OMIM:615595 | Combined oxidative phosphorylation deficiency 19 | . | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | . | | | 10 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 63 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 63 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 63 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | | | | 63 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 134 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:615279 | Cardiofaciocutaneous syndrome 3 | | | | 134 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 178 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:157800 | Cardiospondylocarpofacial syndrome | . | | | 11 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MAPKAPK5 CL E G H | 8550 | 6889 | OMIM:619869 | | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:615486 | Interstitial lung and liver disease | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MBL2 CL E G H | 4153 | 6922 | OMIM:614372 | Mannose-Binding lectin deficiency | | | | 54 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040281 - Very frequent | | | 94 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MC2R CL E G H | 4158 | 6930 | OMIM:202200 | Glucocorticoid deficiency 1 | . | | | 94 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MCCC1 CL E G H | 56922 | 6936 | OMIM:210200 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | . | | | 81 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MCCC1 CL E G H | 56922 | 6936 | ORPHA:6 | 3-methylcrotonyl-CoA carboxylase deficiency | | | | 81 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MCCC2 CL E G H | 64087 | 6937 | OMIM:210210 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | . | | | 77 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MCCC2 CL E G H | 64087 | 6937 | ORPHA:6 | 3-methylcrotonyl-CoA carboxylase deficiency | | | | 77 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MCEE CL E G H | 84693 | 16732 | OMIM:251120 | Methylmalonyl-Coa epimerase deficiency | . | | | 19 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MCM4 CL E G H | 4173 | 6947 | OMIM:609981 | Immunodeficiency 54 | | | | 69 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | HP:0040282 - Frequent | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MDH2 CL E G H | 4191 | 6971 | OMIM:617339 | Epileptic encephalopathy, early infantile, 51 | . | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300673 | Encephalopathy, neonatal severe, due to mecp2 mutations | . | | | 950 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | HP:0040282 - Frequent | | | 950 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MECR CL E G H | 51102 | 19691 | OMIM:617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | | | | 6 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MECR CL E G H | 51102 | 19691 | ORPHA:508093 | MEPAN syndrome | | | | 6 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MED17 CL E G H | 9440 | 2375 | OMIM:613668 | Microcephaly, postnatal progressive, with seizures and brain atrophy | . | | | 23 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MEGF10 CL E G H | 84466 | 29634 | OMIM:614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | . | | | 158 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | . | | | 39 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MGAT2 CL E G H | 4247 | 7045 | ORPHA:79329 | MGAT2-CDG | HP:0040282 - Frequent | | | 39 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MIF CL E G H | 4282 | 7097 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MIPEP CL E G H | 4285 | 7104 | OMIM:617228 | Combined oxidative phosphorylation deficiency 31 | . | | | 7 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MKKS CL E G H | 8195 | 7108 | ORPHA:2473 | McKusick-Kaufman syndrome | HP:0040283 - Occasional | | | 69 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MMAA CL E G H | 166785 | 18871 | OMIM:251100 | Methylmalonic aciduria, Cbla type | . | | | 113 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MMAB CL E G H | 326625 | 19331 | OMIM:251110 | Methylmalonic aciduria, Cblb type | . | | | 127 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040282 - Frequent | | | 101 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | 101 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MMADHC CL E G H | 27249 | 25221 | ORPHA:79283 | Methylmalonic acidemia with homocystinuria, type cblD | HP:0040281 - Very frequent | | | 50 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MMUT CL E G H | 4594 | 7526 | ORPHA:79312 | Vitamin B12-unresponsive methylmalonic acidemia type mut- | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MPDU1 CL E G H | 9526 | 7207 | OMIM:609180 | Congenital disorder of glycosylation, type IF | . | | | 32 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MPI CL E G H | 4351 | 7216 | OMIM:602579 | Congenital disorder of glycosylation, type Ib | . | | | 51 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MPI CL E G H | 4351 | 7216 | ORPHA:79319 | MPI-CDG | HP:0040282 - Frequent | | | 51 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:256810 | Navajo neurohepatopathy | . | | | 56 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040281 - Very frequent | | | 26 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MRPL12 CL E G H | 6182 | 10378 | OMIM:618951 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45 | | | | 11 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MRPL3 CL E G H | 11222 | 10379 | OMIM:614582 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9 | | | | 13 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MRPS14 CL E G H | 63931 | 14049 | OMIM:618378 | Combined oxidative phosphorylation deficiency 38 | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MRPS2 CL E G H | 51116 | 14495 | OMIM:617950 | Combined oxidative phosphorylation deficiency 36 | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MRPS28 CL E G H | 28957 | 14513 | OMIM:618958 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MRPS7 CL E G H | 51081 | 14499 | OMIM:617872 | Combined oxidative phosphorylation deficiency 34 | . | | | 12 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MS4A1 CL E G H | 931 | 7315 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MSMO1 CL E G H | 6307 | 10545 | OMIM:616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MTFMT CL E G H | 123263 | 29666 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 29 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | HP:0040283 - Occasional | | | 183 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MTO1 CL E G H | 25821 | 19261 | OMIM:614702 | Combined oxidative phosphorylation deficiency 10 | . | | | 39 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MTR CL E G H | 4548 | 7468 | OMIM:250940 | Homocystinuria-megaloblastic anemia, cblg Complementation type | . | | | 217 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:613559 | Combined oxidative phosphorylation deficiency 7 | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MTRR CL E G H | 4552 | 7473 | OMIM:236270 | Homocystinuria-megaloblastic anemia, cbl E type | . | | | 88 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MTRR CL E G H | 4552 | 7473 | ORPHA:2169 | Methylcobalamin deficiency type cblE | HP:0040282 - Frequent | | | 88 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040282 - Frequent | | | 81 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | . | | | 166 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040282 - Frequent | | | 1269 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1269 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 131 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | . | | | 5 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MYMX CL E G H | 101929726 | 52391 | OMIM:619941 | | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MYO5B CL E G H | 4645 | 7603 | OMIM:619868 | | | | | 192 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | MYOD1 CL E G H | 4654 | 7611 | OMIM:618975 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NACC1 CL E G H | 112939 | 20967 | OMIM:617393 | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | . | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NACC1 CL E G H | 112939 | 20967 | ORPHA:500545 | Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract | HP:0040281 - Very frequent | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NADK2 CL E G H | 133686 | 26404 | OMIM:616034 | 2,4-Dienoyl-Coa reductase deficiency | . | | | 14 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NADK2 CL E G H | 133686 | 26404 | ORPHA:431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | HP:0040282 - Frequent | | | 14 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | HP:0040283 - Occasional | | | 36 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NAGS CL E G H | 162417 | 17996 | OMIM:237310 | N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY | . | | | 36 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 48 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NCAPG2 CL E G H | 54892 | 21904 | OMIM:618460 | Khan-Khan-Katsanis syndrome | . | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | HP:0040283 - Occasional | | | 39 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFA1 CL E G H | 4694 | 7683 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 7 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFA10 CL E G H | 4705 | 7684 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 91 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFA11 CL E G H | 126328 | 20371 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFA12 CL E G H | 55967 | 23987 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 7 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFA13 CL E G H | 51079 | 17194 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFA13 CL E G H | 51079 | 17194 | OMIM:618249 | Mitochondrial complex I deficiency, nuclear type 28 | . | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFA2 CL E G H | 4695 | 7685 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 19 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFA4 CL E G H | 4697 | 7687 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFA4 CL E G H | 4697 | 7687 | OMIM:619065 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21 | | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFA6 CL E G H | 4700 | 7690 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFA8 CL E G H | 4702 | 7692 | OMIM:619272 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFA9 CL E G H | 4704 | 7693 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFAF1 CL E G H | 51103 | 18828 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFAF1 CL E G H | 51103 | 18828 | OMIM:618234 | Mitochondrial complex I deficiency, nuclear type 11 | . | | | 40 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 26 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 26 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 31 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFAF4 CL E G H | 29078 | 21034 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 50 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFAF4 CL E G H | 29078 | 21034 | OMIM:618237 | Mitochondrial complex I deficiency, nuclear type 15 | . | | | 50 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 34 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 34 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFAF5 CL E G H | 79133 | 15899 | OMIM:618238 | Mitochondrial complex I deficiency, nuclear type 16 | . | | | 34 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 39 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFAF8 CL E G H | 284184 | 33551 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFB10 CL E G H | 4716 | 7696 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:300952 | Linear skin defects with multiple congenital anomalies 3 | . | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFB3 CL E G H | 4709 | 7698 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 9 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFB3 CL E G H | 4709 | 7698 | OMIM:618246 | Mitochondrial complex I deficiency, nuclear type 25 | . | | | 9 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFB8 CL E G H | 4714 | 7703 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFB8 CL E G H | 4714 | 7703 | OMIM:618252 | Mitochondrial complex I deficiency, nuclear type 32 | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFB9 CL E G H | 4715 | 7704 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 16 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 81 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 81 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFS1 CL E G H | 4719 | 7707 | OMIM:618226 | Mitochondrial complex I deficiency, nuclear type 5 | . | | | 81 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 65 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 65 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFS2 CL E G H | 4720 | 7708 | OMIM:618228 | Mitochondrial complex I deficiency, nuclear type 6 | . | | | 65 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 22 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 22 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFS6 CL E G H | 4726 | 7713 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 21 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 38 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 38 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 42 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 42 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 74 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 74 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NDUFV2 CL E G H | 4729 | 7717 | OMIM:618229 | Mitochondrial complex I deficiency, nuclear type 7 | . | | | 27 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NECAP1 CL E G H | 25977 | 24539 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NEUROG3 CL E G H | 50674 | 13806 | OMIM:610370 | Diarrhea 4, malabsorptive, congenital | . | | | 5 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NFASC CL E G H | 23114 | 29866 | OMIM:618356 | Neurodevelopmental disorder with central and peripheral motor dysfunction | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | . | | | 20 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:561 | Marshall-Smith syndrome | HP:0040281 - Very frequent | | | 40 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | . | | | 40 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NFKB1 CL E G H | 4790 | 7794 | ORPHA:1572 | Common variable immunodeficiency | | | | 7 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:1572 | Common variable immunodeficiency | | | | 11 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NFU1 CL E G H | 27247 | 16287 | OMIM:605711 | Multiple mitochondrial dysfunctions syndrome 1 | . | | | 34 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 60 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 494 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | HP:0040283 - Occasional | | | 51 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040281 - Very frequent | | | 13 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NNT CL E G H | 23530 | 7863 | OMIM:614736 | Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency | . | | | 13 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 45 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 45 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 45 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | HP:0040281 - Very frequent | | | 452 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | . | | | 138 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NR0B1 CL E G H | 190 | 7960 | OMIM:300200 | Adrenal hypoplasia, congenital | . | | | 48 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NR1H4 CL E G H | 9971 | 7967 | OMIM:617049 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5 | | | | 14 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NR3C2 CL E G H | 4306 | 7979 | OMIM:177735 | Pseudohypoaldosteronism, type I, autosomal dominant | . | | | 109 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NRTN CL E G H | 4902 | 8007 | ORPHA:388 | Hirschsprung disease | | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 118 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NSRP1 CL E G H | 84081 | 25305 | OMIM:620001 | | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NSUN3 CL E G H | 63899 | 26208 | OMIM:619012 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NTRK2 CL E G H | 4915 | 8032 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 8 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NUBPL CL E G H | 80224 | 20278 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 89 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NUP214 CL E G H | 8021 | 8064 | OMIM:618426 | Encephalopathy, acute, infection-induced, susceptibility to, 9 | . | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NUP62 CL E G H | 23636 | 8066 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040282 - Frequent | | | 7 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NUP62 CL E G H | 23636 | 8066 | OMIM:271930 | Striatonigral degeneration, infantile | . | | | 7 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NUS1 CL E G H | 116150 | 21042 | OMIM:617082 | Congenital disorder of glycosylation, type IAA | . | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | NUS1 CL E G H | 116150 | 21042 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 121 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 121 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | . | | | 23 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:309000 | Lowe syndrome | . | | | 88 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040282 - Frequent | | | 88 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 201 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | OGDHL CL E G H | 55753 | 25590 | OMIM:619701 | YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN | | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ORAI1 CL E G H | 84876 | 25896 | OMIM:612782 | Immunodeficiency 9 | . | | | 19 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ORC1 CL E G H | 4998 | 8487 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 53 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ORC4 CL E G H | 5000 | 8490 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ORC4 CL E G H | 5000 | 8490 | OMIM:613800 | Meier-Gorlin syndrome 2 | . | | | 21 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ORC6 CL E G H | 23594 | 17151 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | . | | | 39 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | OSGEP CL E G H | 55644 | 18028 | OMIM:617729 | Galloway-Mowat syndrome 3 | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | . | | | 369 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | OTUD6B CL E G H | 51633 | 24281 | ORPHA:505237 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | . | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | HP:0040282 - Frequent | | | 24 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PARN CL E G H | 5073 | 8609 | OMIM:616353 | Dyskeratosis congenita, autosomal recessive 6 | . | | | 26 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 26 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PARS2 CL E G H | 25973 | 30563 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 14 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 39 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PBX1 CL E G H | 5087 | 8632 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PCCA CL E G H | 5095 | 8653 | OMIM:606054 | Propionic acidemia | . | | | 96 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PCCB CL E G H | 5096 | 8654 | OMIM:606054 | Propionic acidemia | . | | | 92 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PCSK1 CL E G H | 5122 | 8743 | ORPHA:71528 | Obesity due to prohormone convertase I deficiency | HP:0040283 - Occasional | | | 65 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 88 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PDHX CL E G H | 8050 | 21350 | ORPHA:255182 | Pyruvate dehydrogenase E3-binding protein deficiency | HP:0040283 - Occasional | | | 98 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PDX1 CL E G H | 3651 | 6107 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 30 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PDX1 CL E G H | 3651 | 6107 | OMIM:260370 | Pancreatic agenesis, congenital | . | | | 30 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PERCC1 CL E G H | 105371045 | 52293 | ORPHA:92050 | Congenital tufting enteropathy | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PET100 CL E G H | 100131801 | 40038 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 6 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PET100 CL E G H | 100131801 | 40038 | OMIM:619055 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12 | | | | 6 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 169 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | . | | | 169 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 75 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 75 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 65 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX12 CL E G H | 5193 | 8854 | OMIM:266510 | Peroxisome biogenesis disorder 3B | . | | | 65 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 66 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX13 CL E G H | 5194 | 8855 | OMIM:614883 | Peroxisome biogenesis disorder 11A (Zellweger) | . | | | 66 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 66 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 46 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 46 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 59 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614877 | Peroxisome biogenesis disorder 8B | . | | | 59 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 59 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 62 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 62 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 82 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | . | | | 82 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 106 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 47 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 47 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 99 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | . | | | 99 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 99 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:772 | Infantile Refsum disease | HP:0040281 - Very frequent | | | 98 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:215100 | Rhizomelic chondrodysplasia punctata, type 1 | | | | 72 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040282 - Frequent | | | 15 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | HP:0040282 - Frequent | | | 37 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PHKA2 CL E G H | 5256 | 8926 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040283 - Occasional | | | 54 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PHKG2 CL E G H | 5261 | 8931 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040283 - Occasional | | | 48 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PHOX2B CL E G H | 8929 | 9143 | ORPHA:99803 | Haddad syndrome | HP:0040281 - Very frequent | | | 86 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:2461 | Marden-Walker syndrome | HP:0040281 - Very frequent | | | 77 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PIGB CL E G H | 9488 | 8959 | OMIM:618580 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:60040 | Megalencephaly-capillary malformation-polymicrogyria syndrome | HP:0040282 - Frequent | | | 162 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040282 - Frequent | | | 43 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PKP1 CL E G H | 5317 | 9023 | ORPHA:158668 | Ectodermal dysplasia-skin fragility syndrome | HP:0040282 - Frequent | | | 107 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | HP:0040282 - Frequent | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040283 - Occasional | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280210 | Pelizaeus-Merzbacher disease, connatal form | HP:0040283 - Occasional | | | 60 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | . | | | 150 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040283 - Occasional | | | 150 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PMPCB CL E G H | 9512 | 9119 | OMIM:617954 | Multiple mitochondrial dysfunctions syndrome 6 | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 244 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | . | | | 52 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PNPLA1 CL E G H | 285848 | 21246 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 47 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PNPO CL E G H | 55163 | 30260 | ORPHA:79096 | Pyridoxal phosphate-responsive seizures | HP:0040282 - Frequent | | | 92 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PNPO CL E G H | 55163 | 30260 | OMIM:610090 | Pyridoxamine 5-prime-phosphate oxidase deficiency | . | | | 92 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:319514 | Combined oxidative phosphorylation defect type 13 | HP:0040283 - Occasional | | | 60 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | | | | 10 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301220 | PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR | | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | POLA1 CL E G H | 5422 | 9173 | ORPHA:163976 | X-linked intellectual disability, Van Esch type | HP:0040281 - Very frequent | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | POLG CL E G H | 5428 | 9179 | OMIM:203700 | Mitochondrial DNA depletion syndrome 4A (Alpers type) | . | | | 464 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 45 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | HP:0040283 - Occasional | | | 45 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | POLR1C CL E G H | 9533 | 20194 | OMIM:616494 | Leukodystrophy, hypomyelinating, 11 | | | | 38 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | POLR2A CL E G H | 5430 | 9187 | OMIM:618603 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | . | | | 138 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | POLR3K CL E G H | 51728 | 14121 | OMIM:619310 | LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | POMC CL E G H | 5443 | 9201 | ORPHA:71526 | Obesity due to pro-opiomelanocortin deficiency | HP:0040283 - Occasional | | | 27 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | . | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:528 | Congenital generalized lipodystrophy | HP:0040283 - Occasional | | | 42 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PPFIBP1 CL E G H | 8496 | 9249 | OMIM:620024 | | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PPM1B CL E G H | 5495 | 9276 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PPP3CA CL E G H | 5530 | 9314 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 148 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PREPL CL E G H | 9581 | 30228 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PREPL CL E G H | 9581 | 30228 | ORPHA:163690 | Hypotonia-cystinuria syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | . | | | 58 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PRKACB CL E G H | 5567 | 9381 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:1572 | Common variable immunodeficiency | | | | 10 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | | | | 49 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | HP:0040282 - Frequent | | | 81 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | | | | 27 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PSMB10 CL E G H | 5699 | 9538 | OMIM:619175 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PSMC1 CL E G H | 5700 | 9547 | OMIM:620071 | | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 665 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 665 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 665 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PTDSS1 CL E G H | 9791 | 9587 | OMIM:151050 | Lenz-Majewski hyperostotic dwarfism | . | | | 6 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PTF1A CL E G H | 256297 | 23734 | OMIM:609069 | Pancreatic and cerebellar agenesis | . | | | 22 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | HP:0040282 - Frequent | | | 6 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PTRH2 CL E G H | 51651 | 24265 | OMIM:616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | . | | | 6 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PUS1 CL E G H | 80324 | 15508 | OMIM:600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | . | | | 57 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PYCR1 CL E G H | 5831 | 9721 | OMIM:612940 | Cutis laxa, autosomal recessive, type IIB | . | | | 53 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PYCR2 CL E G H | 29920 | 30262 | OMIM:616420 | Leukodystrophy, hypomyelinating, 10 | . | | | 11 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:481152 | PYCR2-related microcephaly-progressive leukoencephalopathy | HP:0040281 - Very frequent | | | 11 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PYGL CL E G H | 5836 | 9725 | ORPHA:369 | Glycogen storage disease due to liver glycogen phosphorylase deficiency | HP:0040282 - Frequent | | | 71 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | PYGL CL E G H | 5836 | 9725 | OMIM:232700 | Glycogen storage disease VI | | | | 71 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:600118 | Warburg micro syndrome 1 | . | | | 90 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RAC2 CL E G H | 5880 | 9802 | OMIM:618987 | IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C | | | | 9 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | . | | | 127 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040282 - Frequent | | | 127 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RAG1 CL E G H | 5896 | 9831 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | . | | | 127 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | . | | | 50 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040282 - Frequent | | | 50 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RAG2 CL E G H | 5897 | 9832 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | . | | | 50 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:1713 | 17p11.2 microduplication syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | | | | 150 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | | | | 150 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | | | | 73 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RARB CL E G H | 5915 | 9865 | ORPHA:2470 | Matthew-Wood syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | . | | | 93 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | . | | | 10 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | . | | | 16 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:1225 | Baller-Gerold syndrome | | | | 445 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RELB CL E G H | 5971 | 9956 | OMIM:617585 | Immunodeficiency 53 | . | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RET CL E G H | 5979 | 9967 | ORPHA:99803 | Haddad syndrome | HP:0040281 - Very frequent | | | 572 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RET CL E G H | 5979 | 9967 | ORPHA:388 | Hirschsprung disease | | | | 572 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | | | | 572 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RFT1 CL E G H | 91869 | 30220 | OMIM:612015 | Congenital disorder of glycosylation, type IN | . | | | 92 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RFT1 CL E G H | 91869 | 30220 | ORPHA:244310 | RFT1-CDG | HP:0040282 - Frequent | | | 92 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RFX5 CL E G H | 5993 | 9986 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 38 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 38 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RFXANK CL E G H | 8625 | 9987 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 26 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 26 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RFXAP CL E G H | 5994 | 9988 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 34 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 34 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RIT1 CL E G H | 6016 | 10023 | OMIM:615355 | NOONAN SYNDROME 8; NS8 | | | | 39 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040281 - Very frequent | | | 37 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RNF13 CL E G H | 11342 | 10057 | OMIM:618379 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RNF13 CL E G H | 11342 | 10057 | ORPHA:544503 | RNF13-related severe early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RNF2 CL E G H | 6045 | 10061 | OMIM:619460 | LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ROBO1 CL E G H | 6091 | 10249 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RPL5 CL E G H | 6125 | 10360 | OMIM:612561 | Diamond-Blackfan anemia 6 | . | | | 40 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | . | | | 42 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 125 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:612075 | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | . | | | 125 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 77 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | | | | 113 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:424107 | Congenital myopathy with myasthenic-like onset | HP:0040282 - Frequent | | | 1200 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:619542 | KING-DENBOROUGH SYNDROME; KDS | | | | 1200 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1200 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SALL1 CL E G H | 6299 | 10524 | ORPHA:857 | Townes-Brocks syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SAR1B CL E G H | 51128 | 10535 | ORPHA:71 | Chylomicron retention disease | HP:0040282 - Frequent | | | 8 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SAR1B CL E G H | 51128 | 10535 | OMIM:246700 | Chylomicron retention disease | . | | | 8 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | . | | | 60 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 26 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 26 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | HP:0040282 - Frequent | | | 80 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 126 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 427 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SCN3A CL E G H | 6328 | 10590 | OMIM:617938 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62 | | | | 70 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SCN3A CL E G H | 6328 | 10590 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 70 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SCN8A CL E G H | 6334 | 10596 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 357 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 67 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SCNN1A CL E G H | 6337 | 10599 | OMIM:264350 | Pseudohypoaldosteronism, type I, autosomal recessive | . | | | 67 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 61 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 57 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SCO1 CL E G H | 6341 | 10603 | OMIM:619048 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4 | | | | 46 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SCO2 CL E G H | 9997 | 10604 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 40 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 304 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 237 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 129 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SEC31A CL E G H | 22872 | 17052 | OMIM:618651 | HALPERIN-BIRK SYNDROME; HLBKS | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040282 - Frequent | | | 144 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 144 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SELENON CL E G H | 57190 | 15999 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 144 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SELENON CL E G H | 57190 | 15999 | OMIM:602771 | Rigid spine muscular dystrophy 1 | . | | | 144 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SEMA3C CL E G H | 10512 | 10725 | ORPHA:388 | Hirschsprung disease | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SEMA3D CL E G H | 223117 | 10726 | ORPHA:388 | Hirschsprung disease | | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SERAC1 CL E G H | 84947 | 21061 | OMIM:614739 | 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome | . | | | 47 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:586 | Cystic fibrosis | | | | 131 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SFTPB CL E G H | 6439 | 10801 | OMIM:265120 | Surfactant metabolism dysfunction, pulmonary, 1 | . | | | 51 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SFTPC CL E G H | 6440 | 10802 | OMIM:610913 | Surfactant metabolism dysfunction, pulmonary, 2 | | | | 33 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SGO1 CL E G H | 151648 | 25088 | OMIM:616201 | Chronic atrial and intestinal dysrhythmia | . | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261197 | Proximal 16p11.2 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | HP:0040283 - Occasional | | | 493 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 67 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 67 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 67 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 11 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SIL1 CL E G H | 64374 | 24624 | OMIM:248800 | Marinesco-Sjogren syndrome | . | | | 67 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 32 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 32 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 32 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SKIC2 CL E G H | 6499 | 10898 | OMIM:614602 | Trichohepatoenteric syndrome 2 | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC10A2 CL E G H | 6555 | 10906 | OMIM:613291 | Bile acid malabsorption, primary | . | | | 6 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC11A1 CL E G H | 6556 | 10907 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | . | | | 75 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | | | | 145 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC13A5 CL E G H | 284111 | 23089 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 73 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC16A2 CL E G H | 6567 | 10923 | ORPHA:59 | Allan-Herndon-Dudley syndrome | | | | 57 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:269920 | Infantile sialic acid storage disease | . | | | 78 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC19A3 CL E G H | 80704 | 16266 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 110 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC1A2 CL E G H | 6506 | 10940 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 63 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | . | | | 207 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC25A13 CL E G H | 10165 | 10983 | OMIM:605814 | Citrullinemia, type II, neonatal-onset | . | | | 82 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | | | | 82 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | . | | | 88 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC25A21 CL E G H | 89874 | 14411 | OMIM:618811 | MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 166 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2963 | Progeroid syndrome, Petty type | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC25A3 CL E G H | 5250 | 10989 | ORPHA:91130 | Cardiomyopathy-hypotonia-lactic acidosis syndrome | HP:0040282 - Frequent | | | 35 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 68 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC25A46 CL E G H | 91137 | 25198 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 14 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC26A3 CL E G H | 1811 | 3018 | OMIM:214700 | Diarrhea 1, secretory chloride, congenital | . | | | 89 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC26A9 CL E G H | 115019 | 14469 | ORPHA:586 | Cystic fibrosis | | | | 5 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC2A2 CL E G H | 6514 | 11006 | OMIM:227810 | Fanconi-Bickel syndrome | . | | | 71 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC2A2 CL E G H | 6514 | 11006 | ORPHA:2088 | Fanconi-Bickel syndrome | HP:0040281 - Very frequent | | | 71 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC34A1 CL E G H | 6569 | 11019 | OMIM:616963 | HYPERCALCEMIA, INFANTILE, 2; HCINF2 | | | | 47 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC34A3 CL E G H | 142680 | 20305 | OMIM:241530 | Hypophosphatemic rickets with hypercalciuria, hereditary | . | | | 52 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | | | | 27 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040281 - Very frequent | | | 71 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | HP:0040282 - Frequent | | | 110 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC38A3 CL E G H | 10991 | 18044 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC39A13 CL E G H | 91252 | 20859 | ORPHA:157965 | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 24 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC39A4 CL E G H | 55630 | 17129 | ORPHA:37 | Acrodermatitis enteropathica | HP:0040282 - Frequent | | | 55 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC39A4 CL E G H | 55630 | 17129 | OMIM:201100 | Acrodermatitis enteropathica, Zinc-Deficiency type | . | | | 55 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC39A7 CL E G H | 7922 | 4927 | OMIM:619693 | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | | | | 11 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC3A1 CL E G H | 6519 | 11025 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC3A1 CL E G H | 6519 | 11025 | ORPHA:163690 | Hypotonia-cystinuria syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC46A1 CL E G H | 113235 | 30521 | OMIM:229050 | Folate malabsorption, hereditary | . | | | 101 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC46A1 CL E G H | 113235 | 30521 | ORPHA:90045 | Hereditary folate malabsorption | HP:0040281 - Very frequent | | | 101 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:611590 | Renal tubular acidosis, distal, with hemolytic anemia | | | | 109 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC51A CL E G H | 200931 | 29955 | OMIM:619484 | CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC5A1 CL E G H | 6523 | 11036 | ORPHA:35710 | Glucose-galactose malabsorption | HP:0040281 - Very frequent | | | 74 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC5A1 CL E G H | 6523 | 11036 | OMIM:606824 | Glucose/galactose malabsorption | . | | | 74 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC6A14 CL E G H | 11254 | 11047 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | . | | | 122 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | . | | | 104 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040281 - Very frequent | | | 104 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SLC9A3 CL E G H | 6550 | 11073 | ORPHA:586 | Cystic fibrosis | | | | 7 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:174900 | Juvenile polyposis syndrome | HP:0040282 - Frequent | | | 504 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | . | | | 146 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040283 - Occasional | | | 74 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SMARCC2 CL E G H | 6601 | 11105 | OMIM:618362 | Coffin-Siris syndrome 8 | . | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SMARCD2 CL E G H | 6603 | 11107 | OMIM:617475 | SPECIFIC GRANULE DEFICIENCY 2; SGD2 | | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 135 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:388 | Hirschsprung disease | | | | 22 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040282 - Frequent | | | 15 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SMPD1 CL E G H | 6609 | 11120 | OMIM:257200 | Niemann-Pick disease, type A | | | | 164 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SNAP29 CL E G H | 9342 | 11133 | OMIM:609528 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | | | | 94 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 37 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 37 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 37 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SNX10 CL E G H | 29887 | 14974 | OMIM:615085 | Osteopetrosis, autosomal recessive 8 | . | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | | | | 12 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SPATA5 CL E G H | 166378 | 18119 | OMIM:616577 | Epilepsy, hearing loss, and mental retardation syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | . | | | 100 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612379 | Congenital disorder of glycosylation, type IQ | | | | 80 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SREBF1 CL E G H | 6720 | 11289 | ORPHA:388 | Hirschsprung disease | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SSR4 CL E G H | 6748 | 11326 | OMIM:300934 | Congenital disorder of glycosylation, type Iy | | | | 12 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SSR4 CL E G H | 6748 | 11326 | ORPHA:370927 | SSR4-CDG | HP:0040281 - Very frequent | | | 12 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ST3GAL5 CL E G H | 8869 | 10872 | OMIM:609056 | Salt and pepper developmental regression syndrome | . | | | 47 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | STAG1 CL E G H | 10274 | 11354 | ORPHA:502434 | STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301022 | Neurodevelopmental disorder, X-linked, with craniofacial abnormalities | . | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | STAMBP CL E G H | 10617 | 16950 | OMIM:614261 | Microcephaly-Capillary malformation syndrome | . | | | 24 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040281 - Very frequent | | | 45 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040281 - Very frequent | | | 110 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | STAT5B CL E G H | 6777 | 11367 | OMIM:245590 | GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY | | | | 12 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 99 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 99 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 99 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | STRA6 CL E G H | 64220 | 30650 | ORPHA:2470 | Matthew-Wood syndrome | HP:0040283 - Occasional | | | 71 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | STRADA CL E G H | 92335 | 30172 | ORPHA:500533 | Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | STT3A CL E G H | 3703 | 6172 | OMIM:615596 | Congenital disorder of glycosylation, type Iw | . | | | 21 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | STT3A CL E G H | 3703 | 6172 | ORPHA:370921 | STT3A-CDG | HP:0040280 - Obligate | | | 21 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | STT3B CL E G H | 201595 | 30611 | OMIM:615597 | Congenital disorder of glycosylation, type Ix | . | | | 18 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | STT3B CL E G H | 201595 | 30611 | ORPHA:370924 | STT3B-CDG | HP:0040280 - Obligate | | | 18 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SUCLA2 CL E G H | 8803 | 11448 | OMIM:612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | . | | | 66 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | HP:0040282 - Frequent | | | 60 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SUCLG1 CL E G H | 8802 | 11449 | OMIM:245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | | | | 60 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SUGCT CL E G H | 79783 | 16001 | ORPHA:35706 | Glutaric acidemia type 3 | HP:0040283 - Occasional | | | 8 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SUGCT CL E G H | 79783 | 16001 | OMIM:231690 | Glutaric aciduria III | . | | | 8 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 73 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 73 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | 73 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 9 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SYT2 CL E G H | 127833 | 11510 | OMIM:619461 | MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B | | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | SZT2 CL E G H | 23334 | 29040 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 123 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TACO1 CL E G H | 51204 | 24316 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 23 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | . | | | 34 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TAOK1 CL E G H | 57551 | 29259 | OMIM:619575 | DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TBR1 CL E G H | 10716 | 11590 | ORPHA:1617 | 2q24 microdeletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TCF3 CL E G H | 6929 | 11633 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040282 - Frequent | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | HP:0040281 - Very frequent | | | 241 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TCIRG1 CL E G H | 10312 | 11647 | OMIM:259700 | Osteopetrosis, autosomal recessive 1 | . | | | 82 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TCN2 CL E G H | 6948 | 11653 | OMIM:275350 | Transcobalamin II deficiency | . | | | 57 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040282 - Frequent | | | 31 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 31 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | . | | | 238 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 238 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TFAM CL E G H | 7019 | 11741 | OMIM:617156 | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | . | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TFRC CL E G H | 7037 | 11763 | OMIM:616740 | Immunodeficiency 46 | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TGDS CL E G H | 23483 | 20324 | ORPHA:1388 | Catel-Manzke syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:586 | Cystic fibrosis | | | | 13 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:219700 | Cystic fibrosis | | | | 13 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE | | | | 13 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 32 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 32 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 32 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 98 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TIMM50 CL E G H | 92609 | 23656 | ORPHA:505216 | 3-methylglutaconic aciduria type 9 | HP:0040281 - Very frequent | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | . | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TIMMDC1 CL E G H | 51300 | 1321 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TIMMDC1 CL E G H | 51300 | 1321 | OMIM:618251 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31 | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TJP2 CL E G H | 9414 | 11828 | OMIM:607748 | Hypercholanemia, familial | . | | | 149 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | | | | 103 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TKFC CL E G H | 26007 | 24552 | OMIM:618805 | TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TLK2 CL E G H | 11011 | 11842 | OMIM:618050 | Mental retardation, autosomal dominant 57 | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99106 | Atrial septal defect, ostium primum type | HP:0040283 - Occasional | | | 6 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TMEM106B CL E G H | 54664 | 22407 | OMIM:617964 | Leukodystrophy, hypomyelinating, 16 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TMEM126B CL E G H | 55863 | 30883 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TMEM126B CL E G H | 55863 | 30883 | OMIM:618250 | Mitochondrial complex I deficiency, nuclear type 29 | . | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TMEM165 CL E G H | 55858 | 30760 | OMIM:614727 | Congenital disorder of glycosylation, type IIK | . | | | 24 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | . | | | 45 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 45 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | . | | | 63 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TMPRSS15 CL E G H | 5651 | 9490 | OMIM:226200 | Enterokinase deficiency | . | | | 5 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | | | | 44 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TNFRSF13B CL E G H | 23495 | 18153 | ORPHA:1572 | Common variable immunodeficiency | | | | 32 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TNFRSF13C CL E G H | 115650 | 17755 | ORPHA:1572 | Common variable immunodeficiency | | | | 12 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TNFSF12 CL E G H | 8742 | 11927 | ORPHA:1572 | Common variable immunodeficiency | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TNPO2 CL E G H | 30000 | 19998 | OMIM:619556 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040282 - Frequent | | | 61 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TPI1 CL E G H | 7167 | 12009 | OMIM:615512 | Triosephosphate isomerase deficiency | | | | 28 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 54 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 54 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TPM3 CL E G H | 7170 | 12012 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 108 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TRAC CL E G H | 28755 | 12029 | OMIM:615387 | T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY | . | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TRAK1 CL E G H | 22906 | 29947 | OMIM:618201 | Epileptic encephalopathy, early infantile, 68 | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TRAK1 CL E G H | 22906 | 29947 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TRAPPC2 CL E G H | 6399 | 23068 | ORPHA:93284 | Spondyloepiphyseal dysplasia tarda | HP:0040281 - Very frequent | | | 46 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040284 - Very rare | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TRIT1 CL E G H | 54802 | 20286 | OMIM:617873 | Combined oxidative phosphorylation deficiency 35 | . | | | 12 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TRMT10C CL E G H | 54931 | 26022 | OMIM:616974 | Combined oxidative phosphorylation deficiency 30 | . | | | 3 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TRMT5 CL E G H | 57570 | 23141 | OMIM:616539 | Combined oxidative phosphorylation deficiency 26 | . | | | 4 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TRNN CL E G H | 4570 | 7493 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040282 - Frequent | | | 7128 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1231 | Barber-Say syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 113 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040281 - Very frequent | | | 85 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | TYMS CL E G H | 7298 | 12441 | OMIM:620040 | | | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | UBA2 CL E G H | 10054 | 30661 | OMIM:619959 | | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | UBA5 CL E G H | 79876 | 23230 | OMIM:617132 | Epileptic encephalopathy, early infantile, 44 | . | | | 13 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | UBA5 CL E G H | 79876 | 23230 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | | | | 13 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | UBE3B CL E G H | 89910 | 13478 | ORPHA:2707 | Oculocerebrofacial syndrome, Kaufman type | HP:0040282 - Frequent | | | 13 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | . | | | 25 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | UBR1 CL E G H | 197131 | 16808 | ORPHA:2315 | Johanson-Blizzard syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | UFC1 CL E G H | 51506 | 26941 | OMIM:618076 | Neurodevelopmental disorder with spasticity and poor growth | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | UMPS CL E G H | 7372 | 12563 | OMIM:258900 | Orotic aciduria | HP:0040283 - Occasional | | | 135 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | UNC45A CL E G H | 55898 | 30594 | OMIM:619377 | OSTEOOTOHEPATOENTERIC SYNDROME; OOHE | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | UNC80 CL E G H | 285175 | 26582 | OMIM:616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | | | | 23 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 23 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | UQCC2 CL E G H | 84300 | 21237 | OMIM:615824 | Mitochondrial complex III deficiency, nuclear type 7 | | | | 7 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | . | | | 104 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | VHL CL E G H | 7428 | 12687 | OMIM:263400 | Erythrocytosis, familial, 2 | | | | 490 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | VIPAS39 CL E G H | 63894 | 20347 | OMIM:613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | . | | | 27 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | | | | 546 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | . | | | 63 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | VPS37A CL E G H | 137492 | 24928 | ORPHA:319199 | Autosomal recessive spastic paraplegia type 53 | HP:0040284 - Very rare | | | 7 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | VPS45 CL E G H | 11311 | 14579 | OMIM:615285 | Neutropenia, severe congenital, 5, autosomal recessive | . | | | 7 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | VPS53 CL E G H | 55275 | 25608 | OMIM:615851 | Pontocerebellar hypoplasia, type 2E | | | | 26 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | VRK1 CL E G H | 7443 | 12718 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 32 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | WDR4 CL E G H | 10785 | 12756 | OMIM:618346 | Microcephaly, growth deficiency, seizures, and brain malformations | . | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | | | | 224 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | WNT2B CL E G H | 7482 | 12781 | OMIM:618168 | Diarrhea 9 | . | | | 1 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | 149 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 34 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040281 - Very frequent | | | 86 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | YARS2 CL E G H | 51067 | 24249 | OMIM:613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | . | | | 45 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | YWHAG CL E G H | 7532 | 12852 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040282 - Frequent | | | 46 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | . | | | 46 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040282 - Frequent | | | 362 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040282 - Frequent | | | 362 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ZFP57 CL E G H | 346171 | 18791 | OMIM:601410 | Diabetes mellitus, transient neonatal, 1 | | | | 30 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ZFP57 CL E G H | 346171 | 18791 | ORPHA:99886 | Transient neonatal diabetes mellitus | HP:0040283 - Occasional | | | 30 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040281 - Very frequent | | | 34 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040281 - Very frequent | | | 34 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040281 - Very frequent | | | 34 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:306955 | Heterotaxy, visceral, 1, X-linked | . | | | 39 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | | | | 83 | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0001508 | HP:0001508 | Failure to thrive | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:617865 | Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | . | | | 5 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040283 - Occasional | | | 415 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | ABCD1 CL E G H | 215 | 61 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 135 | | |
HP:0001508 | HP:0001525 | Severe failure to thrive | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | ATP7A CL E G H | 538 | 869 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 192 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 276 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | . | | | 276 | | |
HP:0001508 | HP:0001525 | Severe failure to thrive | 1 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040283 - Occasional | | | 53 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | CARS1 CL E G H | 833 | 1493 | OMIM:618891 | MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH | | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | CD19 CL E G H | 930 | 1633 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 38 | | |
HP:0001508 | HP:0008866 | Failure to thrive secondary to recurrent infections | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040282 - Frequent | | | 8 | | |
HP:0001508 | HP:0008866 | Failure to thrive secondary to recurrent infections | 1 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040282 - Frequent | | | 18 | | |
HP:0001508 | HP:0008866 | Failure to thrive secondary to recurrent infections | 1 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040282 - Frequent | | | 24 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | CD81 CL E G H | 975 | 1701 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 1 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0001508 | HP:0001525 | Severe failure to thrive | 1 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040283 - Occasional | | | 9 | | |
HP:0001508 | HP:0001525 | Severe failure to thrive | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040283 - Occasional | | | 27 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | | | | 52 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | HP:0040282 - Frequent | | | 67 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | COG8 CL E G H | 84342 | 18623 | OMIM:611182 | Congenital disorder of glycosylation, type IIh | | | | 39 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | COPB2 CL E G H | 9276 | 2232 | OMIM:617800 | Microcephaly 19, primary, autosomal recessive | . | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | COX5A CL E G H | 9377 | 2267 | OMIM:619064 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20 | | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | CR2 CL E G H | 1380 | 2336 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 10 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | CSF2RA CL E G H | 1438 | 2435 | ORPHA:264675 | Hereditary pulmonary alveolar proteinosis | HP:0040282 - Frequent | | | 15 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | CSF2RB CL E G H | 1439 | 2436 | ORPHA:264675 | Hereditary pulmonary alveolar proteinosis | HP:0040282 - Frequent | | | 17 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | . | | | 178 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040282 - Frequent | | | 134 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | DYRK1A CL E G H | 1859 | 3091 | OMIM:614104 | Mental retardation, autosomal dominant 7 | . | | | 134 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | ECE1 CL E G H | 1889 | 3146 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 13 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | EDN3 CL E G H | 1908 | 3178 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 67 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | EDNRB CL E G H | 1910 | 3180 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 55 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040283 - Occasional | | | 151 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | ERBB2 CL E G H | 2064 | 3430 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 77 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | ERBB3 CL E G H | 2065 | 3431 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 12 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | ERCC1 CL E G H | 2067 | 3433 | OMIM:610758 | Cerebrooculofacioskeletal syndrome 4 | . | | | 20 | | |
HP:0001508 | HP:0001525 | Severe failure to thrive | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | FDFT1 CL E G H | 2222 | 3629 | OMIM:618156 | SQUALENE SYNTHASE DEFICIENCY; SQSD | | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2645 | Osteoglosphonic dysplasia | HP:0040282 - Frequent | | | 172 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0001508 | HP:0001525 | Severe failure to thrive | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0001508 | HP:0001525 | Severe failure to thrive | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | FOXP1 CL E G H | 27086 | 3823 | OMIM:613670 | Mental retardation with language impairment and with or without autistic features | | | | 184 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | GDNF CL E G H | 2668 | 4232 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 59 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040282 - Frequent | | | 99 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040282 - Frequent | | | 60 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040282 - Frequent | | | 580 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040283 - Occasional | | | 580 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040281 - Very frequent | | | 113 | | |
HP:0001508 | HP:0001525 | Severe failure to thrive | 1 | HYMAI CL E G H | 57061 | 5326 | OMIM:601410 | Diabetes mellitus, transient neonatal, 1 | . | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | ICOS CL E G H | 29851 | 5351 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 32 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | IL1RN CL E G H | 3557 | 6000 | OMIM:612852 | Interleukin 1 receptor antagonist deficiency | | | | 40 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0001508 | HP:0008866 | Failure to thrive secondary to recurrent infections | 1 | IL7R CL E G H | 3575 | 6024 | OMIM:608971 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive | . | | | 94 | | |
HP:0001508 | HP:0001525 | Severe failure to thrive | 1 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | . | | | 229 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 119 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 4 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | ITCH CL E G H | 83737 | 13890 | OMIM:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD | | | | 3 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | ITCH CL E G H | 83737 | 13890 | ORPHA:228426 | Syndromic multisystem autoimmune disease due to Itch deficiency | HP:0040281 - Very frequent | | | 3 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | HP:0040283 - Occasional | | | 140 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001525 | Severe failure to thrive | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | LTC4S CL E G H | 4056 | 6719 | OMIM:614037 | LEUKOTRIENE C4 SYNTHASE DEFICIENCY | | | | 1 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | . | | | 63 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 134 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | . | | | 134 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 178 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | MCCC1 CL E G H | 56922 | 6936 | ORPHA:6 | 3-methylcrotonyl-CoA carboxylase deficiency | HP:0040282 - Frequent | | | 81 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | MCCC2 CL E G H | 64087 | 6937 | ORPHA:6 | 3-methylcrotonyl-CoA carboxylase deficiency | HP:0040282 - Frequent | | | 77 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | MS4A1 CL E G H | 931 | 7315 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 1 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | MYOD1 CL E G H | 4654 | 7611 | OMIM:618975 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF | | | | | | |
HP:0001508 | HP:0001525 | Severe failure to thrive | 1 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | NDUFA4 CL E G H | 4697 | 7687 | OMIM:619065 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21 | | | | 4 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | NFKB1 CL E G H | 4790 | 7794 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 7 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 11 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | NRTN CL E G H | 4902 | 8007 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 4 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0001508 | HP:0001525 | Severe failure to thrive | 1 | PEX7 CL E G H | 5191 | 8860 | OMIM:215100 | Rhizomelic chondrodysplasia punctata, type 1 | . | | | 72 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | POLA1 CL E G H | 5422 | 9173 | OMIM:301220 | PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR | | | | 2 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 10 | | |
HP:0001508 | HP:0001525 | Severe failure to thrive | 1 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | HP:0040281 - Very frequent | | | 27 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | PSMB10 CL E G H | 5699 | 9538 | OMIM:619175 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5 | | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | . | | | 291 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | PYGL CL E G H | 5836 | 9725 | OMIM:232700 | Glycogen storage disease VI | | | | 71 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:618987 | IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C | | | | 9 | | |
HP:0001508 | HP:0008866 | Failure to thrive secondary to recurrent infections | 1 | RAG1 CL E G H | 5896 | 9831 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | . | | | 127 | | |
HP:0001508 | HP:0008866 | Failure to thrive secondary to recurrent infections | 1 | RAG2 CL E G H | 5897 | 9832 | OMIM:601457 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | . | | | 50 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:1225 | Baller-Gerold syndrome | HP:0040281 - Very frequent | | | 445 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | RET CL E G H | 5979 | 9967 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 572 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | . | | | 572 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001525 | Severe failure to thrive | 1 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040282 - Frequent | | | 113 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040282 - Frequent | | | 67 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040282 - Frequent | | | 61 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040282 - Frequent | | | 57 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | SEMA3C CL E G H | 10512 | 10725 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 1 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | SEMA3D CL E G H | 223117 | 10726 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 2 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040282 - Frequent | | | 143 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | SLC16A2 CL E G H | 6567 | 10923 | ORPHA:59 | Allan-Herndon-Dudley syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | HP:0040282 - Frequent | | | 82 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | | | | 1 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | HP:0040282 - Frequent | | | 27 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | HP:0040282 - Frequent | | | 11 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | SMO CL E G H | 6608 | 11119 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 22 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | SREBF1 CL E G H | 6720 | 11289 | ORPHA:388 | Hirschsprung disease | HP:0040283 - Occasional | | | 1 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | HP:0040282 - Frequent | | | 103 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | TKFC CL E G H | 26007 | 24552 | OMIM:618805 | TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD | | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | TNFRSF13B CL E G H | 23495 | 18153 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 32 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | TNFRSF13C CL E G H | 115650 | 17755 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 12 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | TNFSF12 CL E G H | 8742 | 11927 | ORPHA:1572 | Common variable immunodeficiency | HP:0040283 - Occasional | | | 1 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | UNC80 CL E G H | 285175 | 26582 | OMIM:616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | | | | 23 | | |
HP:0001508 | HP:0001525 | Severe failure to thrive | 1 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040282 - Frequent | | | 23 | | |
HP:0001508 | HP:0001525 | Severe failure to thrive | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | HP:0040282 - Frequent | | | 546 | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001508 | HP:0001531 | Failure to thrive in infancy | 1 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0001508 | HP:0001525 | Severe failure to thrive | 1 | ZFP57 CL E G H | 346171 | 18791 | OMIM:601410 | Diabetes mellitus, transient neonatal, 1 | . | | | 30 | | |
HP:0001508 | HP:0001525 | Severe failure to thrive | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040281 - Very frequent | | | 83 | | |