Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0001510 | HP:0001510 | Growth delay | 0 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 259 | 68 | 603214 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 285 | 68 | 603214 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ACACA CL E G H | 31 | 613933 | Acetyl-CoA: carboxylase deficiency | 613933 | C0268603 | OMIM | 1 | | 141 | 84 | 200350 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ACACA CL E G H | 31 | 613933 | Acetyl-CoA: carboxylase deficiency | 613933 | C0268603 | OMIM | 1 | | 153 | 84 | 200350 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 322 | 132 | 102630 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 349 | 132 | 102630 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 347 | 144 | 102560 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 370 | 144 | 102560 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 368 | 291 | 608222 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 582 | 291 | 608222 |
HP:0001510 | HP:0001510 | Growth delay | 0 | AGK CL E G H | 55750 | 212350 | Cataract and cardiomyopathy | 212350 | C1859317 | OMIM | 1 | | 220 | 21869 | 610345 |
HP:0001510 | HP:0001510 | Growth delay | 0 | AGK CL E G H | 55750 | 212350 | Cataract and cardiomyopathy | 212350 | C1859317 | OMIM | 1 | | 236 | 21869 | 610345 |
HP:0001510 | HP:0001510 | Growth delay | 0 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 113 | 343 | 180960 |
HP:0001510 | HP:0001510 | Growth delay | 0 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 126 | 343 | 180960 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 285 | 430 | 603741 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 291 | 430 | 603741 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 202 | 13743 | 607206 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 209 | 13743 | 607206 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ANTXR1 CL E G H | 84168 | 230740 | Odontotrichomelic syndrome | 230740 | C0406723 | OMIM | 1 | | 83 | 21014 | 606410 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ANTXR1 CL E G H | 84168 | 230740 | Odontotrichomelic syndrome | 230740 | C0406723 | OMIM | 1 | | 84 | 21014 | 606410 |
HP:0001510 | HP:0001510 | Growth delay | 0 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 53 | 559 | 603531 |
HP:0001510 | HP:0001510 | Growth delay | 0 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 55 | 559 | 603531 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ATP6V0A4 CL E G H | 50617 | 602722 | Renal tubular acidosis, distal, autosomal recessive | 602722 | C1864498 | OMIM | 1 | | 298 | 866 | 605239 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ATP6V0A4 CL E G H | 50617 | 602722 | Renal tubular acidosis, distal, autosomal recessive | 602722 | C1864498 | OMIM | 1 | | 320 | 866 | 605239 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1103 | 886 | 300032 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1217 | 886 | 300032 |
HP:0001510 | HP:0001510 | Growth delay | 0 | AVP CL E G H | 551 | 30925 | | | | ORPHA | 1 | | 76 | 894 | 192340 |
HP:0001510 | HP:0001510 | Growth delay | 0 | BCOR CL E G H | 54880 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0001510 | HP:0001510 | Growth delay | 0 | BCOR CL E G H | 54880 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 32 | 26276 | 609559 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 33 | 26276 | 609559 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 881 | 29253 | 612013 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1064 | 29253 | 612013 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CD55 CL E G H | 1604 | 226300 | Protein-losing enteropathy | 226300 | C0033680 | OMIM | 1 | | 49 | 2665 | 125240 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CD55 CL E G H | 1604 | 226300 | Protein-losing enteropathy | 226300 | C0033680 | OMIM | 1 | | 98 | 2665 | 125240 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CLCN7 CL E G H | 1186 | 667 | | | | ORPHA | 1 | | 388 | 2025 | 602727 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CLCN7 CL E G H | 1186 | 667 | | | | ORPHA | 1 | | 549 | 2025 | 602727 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 40 | 16999 | 608757 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 49 | 16999 | 608757 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 40 | 16999 | 608757 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 49 | 16999 | 608757 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 337 | 30664 | 616254 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 404 | 30664 | 616254 |
HP:0001510 | HP:0001510 | Growth delay | 0 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 221 | 18620 | 606976 |
HP:0001510 | HP:0001510 | Growth delay | 0 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 247 | 18620 | 606976 |
HP:0001510 | HP:0001510 | Growth delay | 0 | COL7A1 CL E G H | 1294 | 226600 | Recessive dystrophic epidermolysis bullosa | 226600 | C0079474 | OMIM | 1 | | 1658 | 2214 | 120120 |
HP:0001510 | HP:0001510 | Growth delay | 0 | COL7A1 CL E G H | 1294 | 226600 | Recessive dystrophic epidermolysis bullosa | 226600 | C0079474 | OMIM | 1 | | 2028 | 2214 | 120120 |
HP:0001510 | HP:0001510 | Growth delay | 0 | COLEC10 CL E G H | 10584 | 248340 | Malpuech facial clefting syndrome | 248340 | C0796032 | OMIM | 1 | | 54 | 2220 | 607620 |
HP:0001510 | HP:0001510 | Growth delay | 0 | COLEC10 CL E G H | 10584 | 248340 | Malpuech facial clefting syndrome | 248340 | C0796032 | OMIM | 1 | | 55 | 2220 | 607620 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CTNS CL E G H | 1497 | 411629 | | | | ORPHA | 1 | | 550 | 2518 | 606272 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CTNS CL E G H | 1497 | 411629 | | | | ORPHA | 1 | | 591 | 2518 | 606272 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 134 | 2873 | 613213 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 144 | 2873 | 613213 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CYP11B2 CL E G H | 1585 | 203400 | Corticosterone methyloxidase type 1 deficiency | 203400 | CN074214 | OMIM | 1 | | 355 | 2592 | 124080 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CYP11B2 CL E G H | 1585 | 203400 | Corticosterone methyloxidase type 1 deficiency | 203400 | CN074214 | OMIM | 1 | | 374 | 2592 | 124080 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CYP11B2 CL E G H | 1585 | 610600 | Corticosterone methyloxidase type 2 deficiency | 610600 | C3463917 | OMIM | 1 | | 355 | 2592 | 124080 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CYP11B2 CL E G H | 1585 | 610600 | Corticosterone methyloxidase type 2 deficiency | 610600 | C3463917 | OMIM | 1 | | 374 | 2592 | 124080 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CYP19A1 CL E G H | 1588 | 91 | Malignant melanoma, childhood | | | ORPHA | 1 | | 272 | 2594 | 107910 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CYP19A1 CL E G H | 1588 | 91 | Malignant melanoma, childhood | | | ORPHA | 1 | | 288 | 2594 | 107910 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CYP27B1 CL E G H | 1594 | 264700 | Vitamin D-dependent rickets, type 1 | 264700 | C0268689 | OMIM | 1 | | 118 | 2606 | 609506 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CYP27B1 CL E G H | 1594 | 264700 | Vitamin D-dependent rickets, type 1 | 264700 | C0268689 | OMIM | 1 | | 136 | 2606 | 609506 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CYP2R1 CL E G H | 120227 | 600081 | Vitamin d hydroxylation-deficient rickets, type 1b | 600081 | C1838657 | OMIM | 1 | | 63 | 20580 | 608713 |
HP:0001510 | HP:0001510 | Growth delay | 0 | CYP2R1 CL E G H | 120227 | 600081 | Vitamin d hydroxylation-deficient rickets, type 1b | 600081 | C1838657 | OMIM | 1 | | 74 | 20580 | 608713 |
HP:0001510 | HP:0001510 | Growth delay | 0 | DCHS1 CL E G H | 8642 | 601390 | 601390 | 601390 | | OMIM | 1 | | 347 | 13681 | 603057 |
HP:0001510 | HP:0001510 | Growth delay | 0 | DCHS1 CL E G H | 8642 | 601390 | 601390 | 601390 | | OMIM | 1 | | 502 | 13681 | 603057 |
HP:0001510 | HP:0001510 | Growth delay | 0 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 140 | 2858 | 601465 |
HP:0001510 | HP:0001510 | Growth delay | 0 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 156 | 2858 | 601465 |
HP:0001510 | HP:0001510 | Growth delay | 0 | DHODH CL E G H | 1723 | 263750 | Miller syndrome | 263750 | C0265257 | OMIM | 1 | | 146 | 2867 | 126064 |
HP:0001510 | HP:0001510 | Growth delay | 0 | DHODH CL E G H | 1723 | 263750 | Miller syndrome | 263750 | C0265257 | OMIM | 1 | | 151 | 2867 | 126064 |
HP:0001510 | HP:0001510 | Growth delay | 0 | DPYD CL E G H | 1806 | 274270 | Dihydropyrimidine dehydrogenase deficiency | 274270 | C2720286 | OMIM | 1 | | 338 | 3012 | 612779 |
HP:0001510 | HP:0001510 | Growth delay | 0 | DPYD CL E G H | 1806 | 274270 | Dihydropyrimidine dehydrogenase deficiency | 274270 | C2720286 | OMIM | 1 | | 340 | 3012 | 612779 |
HP:0001510 | HP:0001510 | Growth delay | 0 | DPYS CL E G H | 1807 | 222748 | Dihydropyrimidinase deficiency | 222748 | C0342803 | OMIM | 1 | | 115 | 3013 | 613326 |
HP:0001510 | HP:0001510 | Growth delay | 0 | DPYS CL E G H | 1807 | 222748 | Dihydropyrimidinase deficiency | 222748 | C0342803 | OMIM | 1 | | 141 | 3013 | 613326 |
HP:0001510 | HP:0001510 | Growth delay | 0 | DSG1 CL E G H | 1828 | 615508 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | 615508 | C3809719 | OMIM | 1 | | 168 | 3048 | 125670 |
HP:0001510 | HP:0001510 | Growth delay | 0 | DSG1 CL E G H | 1828 | 615508 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | 615508 | C3809719 | OMIM | 1 | | 309 | 3048 | 125670 |
HP:0001510 | HP:0001510 | Growth delay | 0 | DST CL E G H | 667 | 614653 | Neuropathy, hereditary sensory and autonomic, type VI | 614653 | C3539003 | OMIM | 1 | | 1903 | 1090 | 113810 |
HP:0001510 | HP:0001510 | Growth delay | 0 | DST CL E G H | 667 | 614653 | Neuropathy, hereditary sensory and autonomic, type VI | 614653 | C3539003 | OMIM | 1 | | 2418 | 1090 | 113810 |
HP:0001510 | HP:0001510 | Growth delay | 0 | DUOXA2 CL E G H | 405753 | 274900 | Thyroglobulin synthesis defect | 274900 | C0342196 | OMIM | 1 | | 69 | 32698 | 612772 |
HP:0001510 | HP:0001510 | Growth delay | 0 | DUOXA2 CL E G H | 405753 | 274900 | Thyroglobulin synthesis defect | 274900 | C0342196 | OMIM | 1 | | 70 | 32698 | 612772 |
HP:0001510 | HP:0001510 | Growth delay | 0 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 1 | | 190 | 3267 | 300161 |
HP:0001510 | HP:0001510 | Growth delay | 0 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 1 | | 196 | 3267 | 300161 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ELAC2 CL E G H | 60528 | 615440 | Combined oxidative phosphorylation deficiency 17 | 615440 | C3809526 | OMIM | 1 | | 354 | 14198 | 605367 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ELAC2 CL E G H | 60528 | 615440 | Combined oxidative phosphorylation deficiency 17 | 615440 | C3809526 | OMIM | 1 | | 541 | 14198 | 605367 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ELOVL4 CL E G H | 6785 | 614457 | Ichthyosis, spastic quadriplegia, and mental retardation | 614457 | C3280856 | OMIM | 1 | | 178 | 14415 | 605512 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ELOVL4 CL E G H | 6785 | 614457 | Ichthyosis, spastic quadriplegia, and mental retardation | 614457 | C3280856 | OMIM | 1 | | 213 | 14415 | 605512 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ELP1 CL E G H | 8518 | 1764 | | | | ORPHA | 1 | | 1054 | 5959 | 603722 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ELP1 CL E G H | 8518 | 1764 | | | | ORPHA | 1 | | 1181 | 5959 | 603722 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ELP1 CL E G H | 8518 | 223900 | Familial dysautonomia | 223900 | C0013364 | OMIM | 1 | | 1054 | 5959 | 603722 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ELP1 CL E G H | 8518 | 223900 | Familial dysautonomia | 223900 | C0013364 | OMIM | 1 | | 1181 | 5959 | 603722 |
HP:0001510 | HP:0001510 | Growth delay | 0 | EPG5 CL E G H | 57724 | 242840 | Vici syndrome | 242840 | C1855772 | OMIM | 1 | | 801 | 29331 | 615068 |
HP:0001510 | HP:0001510 | Growth delay | 0 | EPG5 CL E G H | 57724 | 242840 | Vici syndrome | 242840 | C1855772 | OMIM | 1 | | 1033 | 29331 | 615068 |
HP:0001510 | HP:0001510 | Growth delay | 0 | EXOSC3 CL E G H | 51010 | 614678 | Pontocerebellar hypoplasia, type 1b | 614678 | C3553449 | OMIM | 1 | | 161 | 17944 | 606489 |
HP:0001510 | HP:0001510 | Growth delay | 0 | EXOSC3 CL E G H | 51010 | 614678 | Pontocerebellar hypoplasia, type 1b | 614678 | C3553449 | OMIM | 1 | | 175 | 17944 | 606489 |
HP:0001510 | HP:0001510 | Growth delay | 0 | FANCB CL E G H | 2187 | 300514 | Fanconi anemia, complementation group B | 300514 | C1845292 | OMIM | 1 | | 410 | 3583 | 300515 |
HP:0001510 | HP:0001510 | Growth delay | 0 | FANCB CL E G H | 2187 | 300514 | Fanconi anemia, complementation group B | 300514 | C1845292 | OMIM | 1 | | 481 | 3583 | 300515 |
HP:0001510 | HP:0001510 | Growth delay | 0 | FAR1 CL E G H | 84188 | 616154 | Peroxisomal fatty acyl-coa reductase 1 disorder | 616154 | C4015344 | OMIM | 1 | | 66 | 26222 | 616107 |
HP:0001510 | HP:0001510 | Growth delay | 0 | FAR1 CL E G H | 84188 | 616154 | Peroxisomal fatty acyl-coa reductase 1 disorder | 616154 | C4015344 | OMIM | 1 | | 126 | 26222 | 616107 |
HP:0001510 | HP:0001510 | Growth delay | 0 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 361 | 21062 | 611592 |
HP:0001510 | HP:0001510 | Growth delay | 0 | FARS2 CL E G H | 10667 | 614946 | Combined oxidative phosphorylation deficiency 14 | 614946 | C3554168 | OMIM | 1 | | 429 | 21062 | 611592 |
HP:0001510 | HP:0001510 | Growth delay | 0 | FAT4 CL E G H | 79633 | 615546 | Van Maldergem syndrome 2 | 615546 | C3809875 | OMIM | 1 | | 519 | 23109 | 612411 |
HP:0001510 | HP:0001510 | Growth delay | 0 | FAT4 CL E G H | 79633 | 615546 | Van Maldergem syndrome 2 | 615546 | C3809875 | OMIM | 1 | | 989 | 23109 | 612411 |
HP:0001510 | HP:0001510 | Growth delay | 0 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 458 | 13601 | 605654 |
HP:0001510 | HP:0001510 | Growth delay | 0 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 1 | | 474 | 13601 | 605654 |
HP:0001510 | HP:0001510 | Growth delay | 0 | FOXG1 CL E G H | 2290 | 261144 | | | | ORPHA | 1 | | 491 | 3811 | 164874 |
HP:0001510 | HP:0001510 | Growth delay | 0 | FOXG1 CL E G H | 2290 | 261144 | | | | ORPHA | 1 | | 534 | 3811 | 164874 |
HP:0001510 | HP:0001510 | Growth delay | 0 | FRMD4A CL E G H | 55691 | 466688 | | | | ORPHA | 1 | | 57 | 25491 | 616305 |
HP:0001510 | HP:0001510 | Growth delay | 0 | FRMD4A CL E G H | 55691 | 466688 | | | | ORPHA | 1 | | 58 | 25491 | 616305 |
HP:0001510 | HP:0001510 | Growth delay | 0 | FTCD CL E G H | 10841 | 229100 | GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY | 229100 | C0268609 | OMIM | 1 | | 235 | 3974 | 606806 |
HP:0001510 | HP:0001510 | Growth delay | 0 | FTCD CL E G H | 10841 | 229100 | GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY | 229100 | C0268609 | OMIM | 1 | | 266 | 3974 | 606806 |
HP:0001510 | HP:0001510 | Growth delay | 0 | G6PC3 CL E G H | 92579 | 612541 | Severe congenital neutropenia 4, autosomal recessive | 612541 | C2675526 | OMIM | 1 | | 159 | 24861 | 611045 |
HP:0001510 | HP:0001510 | Growth delay | 0 | G6PC3 CL E G H | 92579 | 612541 | Severe congenital neutropenia 4, autosomal recessive | 612541 | C2675526 | OMIM | 1 | | 198 | 24861 | 611045 |
HP:0001510 | HP:0001510 | Growth delay | 0 | GK CL E G H | 2710 | 307030 | Deficiency of glycerol kinase | 307030 | C0268418 | OMIM | 1 | | 220 | 4289 | 300474 |
HP:0001510 | HP:0001510 | Growth delay | 0 | GK CL E G H | 2710 | 307030 | Deficiency of glycerol kinase | 307030 | C0268418 | OMIM | 1 | | 222 | 4289 | 300474 |
HP:0001510 | HP:0001510 | Growth delay | 0 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 49 | 24247 | 610516 |
HP:0001510 | HP:0001510 | Growth delay | 0 | GLYCTK CL E G H | 132158 | 220120 | Deficiency of glycerate kinase | 220120 | C1291386 | OMIM | 1 | | 67 | 24247 | 610516 |
HP:0001510 | HP:0001510 | Growth delay | 0 | GNAS CL E G H | 2778 | 166350 | Progressive osseous heteroplasia | 166350 | C0334041 | OMIM | 1 | | 333 | 4392 | 139320 |
HP:0001510 | HP:0001510 | Growth delay | 0 | GNAS CL E G H | 2778 | 166350 | Progressive osseous heteroplasia | 166350 | C0334041 | OMIM | 1 | | 371 | 4392 | 139320 |
HP:0001510 | HP:0001510 | Growth delay | 0 | GNB1 CL E G H | 2782 | 488613 | | | | ORPHA | 1 | | 217 | 4396 | 139380 |
HP:0001510 | HP:0001510 | Growth delay | 0 | GNB1 CL E G H | 2782 | 488613 | | | | ORPHA | 1 | | 250 | 4396 | 139380 |
HP:0001510 | HP:0001510 | Growth delay | 0 | GUCY2D CL E G H | 3000 | 204000 | Leber congenital amaurosis 1 | 204000 | C2931258 | OMIM | 1 | | 593 | 4689 | 600179 |
HP:0001510 | HP:0001510 | Growth delay | 0 | GUCY2D CL E G H | 3000 | 204000 | Leber congenital amaurosis 1 | 204000 | C2931258 | OMIM | 1 | | 731 | 4689 | 600179 |
HP:0001510 | HP:0001510 | Growth delay | 0 | HADH CL E G H | 3033 | 231530 | Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 231530 | C1291230 | OMIM | 1 | | 137 | 4799 | 601609 |
HP:0001510 | HP:0001510 | Growth delay | 0 | HADH CL E G H | 3033 | 231530 | Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 231530 | C1291230 | OMIM | 1 | | 156 | 4799 | 601609 |
HP:0001510 | HP:0001510 | Growth delay | 0 | HIC1 CL E G H | 3090 | 531 | Acute myeloblastic leukemia type 6 | | | ORPHA | 1 | | 77 | 4909 | 603825 |
HP:0001510 | HP:0001510 | Growth delay | 0 | HIC1 CL E G H | 3090 | 531 | Acute myeloblastic leukemia type 6 | | | ORPHA | 1 | | 78 | 4909 | 603825 |
HP:0001510 | HP:0001510 | Growth delay | 0 | HLCS CL E G H | 3141 | 79242 | | | | ORPHA | 1 | | 581 | 4976 | 609018 |
HP:0001510 | HP:0001510 | Growth delay | 0 | HLCS CL E G H | 3141 | 79242 | | | | ORPHA | 1 | | 623 | 4976 | 609018 |
HP:0001510 | HP:0001510 | Growth delay | 0 | HMOX1 CL E G H | 3162 | 614034 | Heme oxygenase 1 deficiency | 614034 | C1841651 | OMIM | 1 | | 60 | 5013 | 141250 |
HP:0001510 | HP:0001510 | Growth delay | 0 | HMOX1 CL E G H | 3162 | 614034 | Heme oxygenase 1 deficiency | 614034 | C1841651 | OMIM | 1 | | 99 | 5013 | 141250 |
HP:0001510 | HP:0001510 | Growth delay | 0 | HSD11B2 CL E G H | 3291 | 218030 | Apparent mineralocorticoid excess | 218030 | C2936861 | OMIM | 1 | | 72 | 5209 | 614232 |
HP:0001510 | HP:0001510 | Growth delay | 0 | HSD11B2 CL E G H | 3291 | 218030 | Apparent mineralocorticoid excess | 218030 | C2936861 | OMIM | 1 | | 74 | 5209 | 614232 |
HP:0001510 | HP:0001510 | Growth delay | 0 | HTRA2 CL E G H | 27429 | 617248 | 3-methylglutaconic aciduria, type VIII | 617248 | C4310650 | OMIM | 1 | | 96 | 14348 | 606441 |
HP:0001510 | HP:0001510 | Growth delay | 0 | HTRA2 CL E G H | 27429 | 617248 | 3-methylglutaconic aciduria, type VIII | 617248 | C4310650 | OMIM | 1 | | 132 | 14348 | 606441 |
HP:0001510 | HP:0001510 | Growth delay | 0 | IL21 CL E G H | 59067 | 615767 | Common variable immunodeficiency 11 | 615767 | C4014258 | OMIM | 1 | | 48 | 6005 | 605384 |
HP:0001510 | HP:0001510 | Growth delay | 0 | IL21 CL E G H | 59067 | 615767 | Common variable immunodeficiency 11 | 615767 | C4014258 | OMIM | 1 | | 63 | 6005 | 605384 |
HP:0001510 | HP:0001510 | Growth delay | 0 | IYD CL E G H | 389434 | 274800 | Iodotyrosine deiodination defect | 274800 | C0342195 | OMIM | 1 | | 65 | 21071 | 612025 |
HP:0001510 | HP:0001510 | Growth delay | 0 | KIF7 CL E G H | 374654 | 200990 | Acrocallosal syndrome, Schinzel type | 200990 | C0796147 | OMIM | 1 | | 540 | 30497 | 611254 |
HP:0001510 | HP:0001510 | Growth delay | 0 | KIF7 CL E G H | 374654 | 200990 | Acrocallosal syndrome, Schinzel type | 200990 | C0796147 | OMIM | 1 | | 813 | 30497 | 611254 |
HP:0001510 | HP:0001510 | Growth delay | 0 | KRAS CL E G H | 3845 | 3339 | | | | ORPHA | 1 | | 331 | 6407 | 190070 |
HP:0001510 | HP:0001510 | Growth delay | 0 | KRAS CL E G H | 3845 | 3339 | | | | ORPHA | 1 | | 341 | 6407 | 190070 |
HP:0001510 | HP:0001510 | Growth delay | 0 | KRT14 CL E G H | 3861 | 89838 | | | | ORPHA | 1 | | 148 | 6416 | 148066 |
HP:0001510 | HP:0001510 | Growth delay | 0 | KRT14 CL E G H | 3861 | 89838 | | | | ORPHA | 1 | | 155 | 6416 | 148066 |
HP:0001510 | HP:0001510 | Growth delay | 0 | KRT14 CL E G H | 3861 | 131760 | Epidermolysis bullosa herpetiformis, Dowling-Meara | 131760 | C0079295 | OMIM | 1 | | 148 | 6416 | 148066 |
HP:0001510 | HP:0001510 | Growth delay | 0 | KRT14 CL E G H | 3861 | 131760 | Epidermolysis bullosa herpetiformis, Dowling-Meara | 131760 | C0079295 | OMIM | 1 | | 155 | 6416 | 148066 |
HP:0001510 | HP:0001510 | Growth delay | 0 | KRT5 CL E G H | 3852 | 131760 | Epidermolysis bullosa herpetiformis, Dowling-Meara | 131760 | C0079295 | OMIM | 1 | | 241 | 6442 | 148040 |
HP:0001510 | HP:0001510 | Growth delay | 0 | KRT5 CL E G H | 3852 | 131760 | Epidermolysis bullosa herpetiformis, Dowling-Meara | 131760 | C0079295 | OMIM | 1 | | 252 | 6442 | 148040 |
HP:0001510 | HP:0001510 | Growth delay | 0 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 263 | 16429 | 607031 |
HP:0001510 | HP:0001510 | Growth delay | 0 | LIAS CL E G H | 11019 | 614462 | Pyruvate dehydrogenase lipoic acid synthetase deficiency | 614462 | C3280887 | OMIM | 1 | | 309 | 16429 | 607031 |
HP:0001510 | HP:0001510 | Growth delay | 0 | LIG4 CL E G H | 3981 | 99812 | | | | ORPHA | 1 | | 388 | 6601 | 601837 |
HP:0001510 | HP:0001510 | Growth delay | 0 | LIG4 CL E G H | 3981 | 99812 | | | | ORPHA | 1 | | 467 | 6601 | 601837 |
HP:0001510 | HP:0001510 | Growth delay | 0 | LINS1 CL E G H | 55180 | 614340 | Mental retardation, autosomal recessive 27 | 614340 | C3280538 | OMIM | 1 | | 215 | 30922 | 610350 |
HP:0001510 | HP:0001510 | Growth delay | 0 | LINS1 CL E G H | 55180 | 614340 | Mental retardation, autosomal recessive 27 | 614340 | C3280538 | OMIM | 1 | | 218 | 30922 | 610350 |
HP:0001510 | HP:0001510 | Growth delay | 0 | LIPA CL E G H | 3988 | 75233 | | | | ORPHA | 1 | | 339 | 6617 | 613497 |
HP:0001510 | HP:0001510 | Growth delay | 0 | LIPA CL E G H | 3988 | 75233 | | | | ORPHA | 1 | | 372 | 6617 | 613497 |
HP:0001510 | HP:0001510 | Growth delay | 0 | LMNA CL E G H | 4000 | 176670 | Hutchinson-Gilford syndrome | 176670 | C0033300 | OMIM | 1 | | 1347 | 6636 | 150330 |
HP:0001510 | HP:0001510 | Growth delay | 0 | LMNA CL E G H | 4000 | 176670 | Hutchinson-Gilford syndrome | 176670 | C0033300 | OMIM | 1 | | 1486 | 6636 | 150330 |
HP:0001510 | HP:0001510 | Growth delay | 0 | LPIN2 CL E G H | 9663 | 609628 | Majeed syndrome | 609628 | C1864997 | OMIM | 1 | | 647 | 14450 | 605519 |
HP:0001510 | HP:0001510 | Growth delay | 0 | LPIN2 CL E G H | 9663 | 609628 | Majeed syndrome | 609628 | C1864997 | OMIM | 1 | | 715 | 14450 | 605519 |
HP:0001510 | HP:0001510 | Growth delay | 0 | LRBA CL E G H | 987 | 614700 | Common variable immunodeficiency 8, with autoimmunity | 614700 | C3553512 | OMIM | 1 | | 986 | 1742 | 606453 |
HP:0001510 | HP:0001510 | Growth delay | 0 | LRBA CL E G H | 987 | 614700 | Common variable immunodeficiency 8, with autoimmunity | 614700 | C3553512 | OMIM | 1 | | 1253 | 1742 | 606453 |
HP:0001510 | HP:0001510 | Growth delay | 0 | MALT1 CL E G H | 10892 | 615468 | Immunodeficiency 12 | 615468 | C3809583 | OMIM | 1 | | 218 | 6819 | 604860 |
HP:0001510 | HP:0001510 | Growth delay | 0 | MALT1 CL E G H | 10892 | 615468 | Immunodeficiency 12 | 615468 | C3809583 | OMIM | 1 | | 280 | 6819 | 604860 |
HP:0001510 | HP:0001510 | Growth delay | 0 | MAN2B1 CL E G H | 4125 | 248500 | Deficiency of alpha-mannosidase | 248500 | C0024748 | OMIM | 1 | | 653 | 6826 | 609458 |
HP:0001510 | HP:0001510 | Growth delay | 0 | MAN2B1 CL E G H | 4125 | 248500 | Deficiency of alpha-mannosidase | 248500 | C0024748 | OMIM | 1 | | 790 | 6826 | 609458 |
HP:0001510 | HP:0001510 | Growth delay | 0 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 214 | 6901 | 600521 |
HP:0001510 | HP:0001510 | Growth delay | 0 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 220 | 6901 | 600521 |
HP:0001510 | HP:0001510 | Growth delay | 0 | MMUT CL E G H | 4594 | 289916 | | | | ORPHA | 1 | | 611 | 7526 | 609058 |
HP:0001510 | HP:0001510 | Growth delay | 0 | MMUT CL E G H | 4594 | 289916 | | | | ORPHA | 1 | | 684 | 7526 | 609058 |
HP:0001510 | HP:0001510 | Growth delay | 0 | MOCS1 CL E G H | 4337 | 252150 | Molybdenum cofactor deficiency, complementation group A | 252150 | C1854988 | OMIM | 1 | | 268 | 7190 | 603707 |
HP:0001510 | HP:0001510 | Growth delay | 0 | MOCS1 CL E G H | 4337 | 252150 | Molybdenum cofactor deficiency, complementation group A | 252150 | C1854988 | OMIM | 1 | | 365 | 7190 | 603707 |
HP:0001510 | HP:0001510 | Growth delay | 0 | MOCS2 CL E G H | 4338 | 252160 | Molybdenum cofactor deficiency, complementation group B | 252160 | C1854989 | OMIM | 1 | | 158 | 7193 | 603708 |
HP:0001510 | HP:0001510 | Growth delay | 0 | MOCS2 CL E G H | 4338 | 252160 | Molybdenum cofactor deficiency, complementation group B | 252160 | C1854989 | OMIM | 1 | | 213 | 7193 | 603708 |
HP:0001510 | HP:0001510 | Growth delay | 0 | MPLKIP CL E G H | 136647 | 234050 | Trichothiodystrophy, nonphotosensitive 1 | 234050 | C1961117 | OMIM | 1 | | 63 | 16002 | 609188 |
HP:0001510 | HP:0001510 | Growth delay | 0 | MPLKIP CL E G H | 136647 | 234050 | Trichothiodystrophy, nonphotosensitive 1 | 234050 | C1961117 | OMIM | 1 | | 92 | 16002 | 609188 |
HP:0001510 | HP:0001510 | Growth delay | 0 | MRPS22 CL E G H | 56945 | 611719 | Combined oxidative phosphorylation deficiency 5 | 611719 | C2673642 | OMIM | 1 | | 116 | 14508 | 605810 |
HP:0001510 | HP:0001510 | Growth delay | 0 | MRPS22 CL E G H | 56945 | 611719 | Combined oxidative phosphorylation deficiency 5 | 611719 | C2673642 | OMIM | 1 | | 130 | 14508 | 605810 |
HP:0001510 | HP:0001510 | Growth delay | 0 | MYMK CL E G H | 389827 | 254940 | Congenital nonprogressive myopathy with Moebius and Robin sequences | 254940 | C1850746 | OMIM | 1 | | 77 | 33778 | 615345 |
HP:0001510 | HP:0001510 | Growth delay | 0 | MYO5B CL E G H | 4645 | 251850 | Congenital microvillous atrophy | 251850 | C0341306 | OMIM | 1 | | 585 | 7603 | 606540 |
HP:0001510 | HP:0001510 | Growth delay | 0 | MYO5B CL E G H | 4645 | 251850 | Congenital microvillous atrophy | 251850 | C0341306 | OMIM | 1 | | 823 | 7603 | 606540 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NAA10 CL E G H | 8260 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 333 | 18704 | 300013 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NAA10 CL E G H | 8260 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 348 | 18704 | 300013 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NDST1 CL E G H | 3340 | 616116 | Mental retardation, autosomal recessive 46 | 616116 | C4015283 | OMIM | 1 | | 98 | 7680 | 600853 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NDST1 CL E G H | 3340 | 616116 | Mental retardation, autosomal recessive 46 | 616116 | C4015283 | OMIM | 1 | | 108 | 7680 | 600853 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 97 | 7711 | 602694 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 101 | 7711 | 602694 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NEXMIF CL E G H | 340533 | 300912 | Mental retardation, X-linked 98 | 300912 | C3806730 | OMIM | 1 | | 650 | 29433 | 300524 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NEXMIF CL E G H | 340533 | 300912 | Mental retardation, X-linked 98 | 300912 | C3806730 | OMIM | 1 | | 736 | 29433 | 300524 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NFE2L2 CL E G H | 4780 | 617744 | IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA | 617744 | C4540293 | OMIM | 1 | | 70 | 7782 | 600492 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NFE2L2 CL E G H | 4780 | 617744 | IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA | 617744 | C4540293 | OMIM | 1 | | 106 | 7782 | 600492 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NHEJ1 CL E G H | 79840 | 169079 | | | | ORPHA | 1 | | 127 | 25737 | 611290 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NHEJ1 CL E G H | 79840 | 169079 | | | | ORPHA | 1 | | 163 | 25737 | 611290 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NHP2 CL E G H | 55651 | 613987 | Dyskeratosis congenita, autosomal recessive 2 | 613987 | C3151441 | OMIM | 1 | | 113 | 14377 | 606470 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NHP2 CL E G H | 55651 | 613987 | Dyskeratosis congenita, autosomal recessive 2 | 613987 | C3151441 | OMIM | 1 | | 136 | 14377 | 606470 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NKX2-5 CL E G H | 1482 | 225250 | Hypothyroidism, congenital, nongoitrous, 5 | 225250 | C2673630 | OMIM | 1 | | 291 | 2488 | 600584 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NKX2-5 CL E G H | 1482 | 225250 | Hypothyroidism, congenital, nongoitrous, 5 | 225250 | C2673630 | OMIM | 1 | | 355 | 2488 | 600584 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NLRP1 CL E G H | 22861 | 617388 | Autoinflammation with arthritis and dyskeratosis | 617388 | C4479278 | OMIM | 1 | | 202 | 14374 | 606636 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NLRP1 CL E G H | 22861 | 617388 | Autoinflammation with arthritis and dyskeratosis | 617388 | C4479278 | OMIM | 1 | | 387 | 14374 | 606636 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NLRP3 CL E G H | 114548 | 607115 | Chronic infantile neurological, cutaneous and articular syndrome | 607115 | C0409818 | OMIM | 1 | | 605 | 16400 | 606416 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NLRP3 CL E G H | 114548 | 607115 | Chronic infantile neurological, cutaneous and articular syndrome | 607115 | C0409818 | OMIM | 1 | | 676 | 16400 | 606416 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NPHP1 CL E G H | 4867 | 256100 | Nephronophthisis 1 | 256100 | C1855681 | OMIM | 1 | | 532 | 7905 | 607100 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NPHP1 CL E G H | 4867 | 256100 | Nephronophthisis 1 | 256100 | C1855681 | OMIM | 1 | | 626 | 7905 | 607100 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NPHP4 CL E G H | 261734 | 606966 | Nephronophthisis 4 | 606966 | C1847013 | OMIM | 1 | | 949 | 19104 | 607215 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NPHP4 CL E G H | 261734 | 606966 | Nephronophthisis 4 | 606966 | C1847013 | OMIM | 1 | | 1131 | 19104 | 607215 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NPHS1 CL E G H | 4868 | 256300 | Finnish congenital nephrotic syndrome | 256300 | C0403399 | OMIM | 1 | | 807 | 7908 | 602716 |
HP:0001510 | HP:0001510 | Growth delay | 0 | NPHS1 CL E G H | 4868 | 256300 | Finnish congenital nephrotic syndrome | 256300 | C0403399 | OMIM | 1 | | 885 | 7908 | 602716 |
HP:0001510 | HP:0001510 | Growth delay | 0 | OFD1 CL E G H | 8481 | 300804 | Joubert syndrome 10 | 300804 | C2749019 | OMIM | 1 | | 647 | 2567 | 300170 |
HP:0001510 | HP:0001510 | Growth delay | 0 | OFD1 CL E G H | 8481 | 300804 | Joubert syndrome 10 | 300804 | C2749019 | OMIM | 1 | | 723 | 2567 | 300170 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PAFAH1B1 CL E G H | 5048 | 531 | Acute myeloblastic leukemia type 6 | | | ORPHA | 1 | | 303 | 8574 | 601545 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PAFAH1B1 CL E G H | 5048 | 531 | Acute myeloblastic leukemia type 6 | | | ORPHA | 1 | | 368 | 8574 | 601545 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PAH CL E G H | 5053 | 79254 | | | | ORPHA | 1 | | 1164 | 8582 | 612349 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PAH CL E G H | 5053 | 79254 | | | | ORPHA | 1 | | 1215 | 8582 | 612349 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PAX6 CL E G H | 5080 | 120200 | Congenital ocular coloboma | 120200 | C0009363 | OMIM | 1 | | 577 | 8620 | 607108 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PAX6 CL E G H | 5080 | 120200 | Congenital ocular coloboma | 120200 | C0009363 | OMIM | 1 | | 632 | 8620 | 607108 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PAX8 CL E G H | 7849 | 218700 | Thyroid dysgenesis | 218700 | C1563716 | OMIM | 1 | | 187 | 8622 | 167415 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PAX8 CL E G H | 7849 | 218700 | Thyroid dysgenesis | 218700 | C1563716 | OMIM | 1 | | 191 | 8622 | 167415 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PEX19 CL E G H | 5824 | 614886 | Peroxisome biogenesis disorder 12A | 614886 | C3554002 | OMIM | 1 | | 181 | 9713 | 600279 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PEX19 CL E G H | 5824 | 614886 | Peroxisome biogenesis disorder 12A | 614886 | C3554002 | OMIM | 1 | | 249 | 9713 | 600279 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PHGDH CL E G H | 26227 | 601815 | Phosphoglycerate dehydrogenase deficiency | 601815 | C1866174 | OMIM | 1 | | 281 | 8923 | 606879 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PHGDH CL E G H | 26227 | 601815 | Phosphoglycerate dehydrogenase deficiency | 601815 | C1866174 | OMIM | 1 | | 407 | 8923 | 606879 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PHKA2 CL E G H | 5256 | 306000 | Glycogen storage disease type IXa1 | 306000 | C0017927 | OMIM | 1 | | 429 | 8926 | 300798 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PHKA2 CL E G H | 5256 | 306000 | Glycogen storage disease type IXa1 | 306000 | C0017927 | OMIM | 1 | | 465 | 8926 | 300798 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PHKG2 CL E G H | 5261 | 613027 | Glycogen storage disease IXc | 613027 | C2751643 | OMIM | 1 | | 148 | 8931 | 172471 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PHKG2 CL E G H | 5261 | 613027 | Glycogen storage disease IXc | 613027 | C2751643 | OMIM | 1 | | 156 | 8931 | 172471 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PIGH CL E G H | 5283 | 618010 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 | 618010 | CN248527 | OMIM | 1 | | 16 | 8964 | 600154 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PIGH CL E G H | 5283 | 618010 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 | 618010 | CN248527 | OMIM | 1 | | 17 | 8964 | 600154 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PIGO CL E G H | 84720 | 614749 | Hyperphosphatasia with mental retardation syndrome 2 | 614749 | C3553637 | OMIM | 1 | | 637 | 23215 | 614730 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PIGO CL E G H | 84720 | 614749 | Hyperphosphatasia with mental retardation syndrome 2 | 614749 | C3553637 | OMIM | 1 | | 732 | 23215 | 614730 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PIGP CL E G H | 51227 | 617599 | Early infantile epileptic encephalopathy 55 | 617599 | C4539843 | OMIM | 1 | | 76 | 3046 | 605938 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PIGP CL E G H | 51227 | 617599 | Early infantile epileptic encephalopathy 55 | 617599 | C4539843 | OMIM | 1 | | 117 | 3046 | 605938 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PIGY CL E G H | 84992 | 616809 | Hyperphosphatasia with mental retardation syndrome 6 | 616809 | C4225201 | OMIM | 1 | | 30 | 28213 | 610662 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PIGY CL E G H | 84992 | 616809 | Hyperphosphatasia with mental retardation syndrome 6 | 616809 | C4225201 | OMIM | 1 | | 34 | 28213 | 610662 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PNPT1 CL E G H | 87178 | 614932 | Combined oxidative phosphorylation deficiency 13 | 614932 | C3554129 | OMIM | 1 | | 241 | 23166 | 610316 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PNPT1 CL E G H | 87178 | 614932 | Combined oxidative phosphorylation deficiency 13 | 614932 | C3554129 | OMIM | 1 | | 398 | 23166 | 610316 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PPM1B CL E G H | 5495 | 163693 | | | | ORPHA | 1 | | 30 | 9276 | 603770 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PPM1B CL E G H | 5495 | 163693 | | | | ORPHA | 1 | | 31 | 9276 | 603770 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PREPL CL E G H | 9581 | 163690 | | | | ORPHA | 1 | | 395 | 30228 | 609557 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PREPL CL E G H | 9581 | 163690 | | | | ORPHA | 1 | | 495 | 30228 | 609557 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PREPL CL E G H | 9581 | 163693 | | | | ORPHA | 1 | | 395 | 30228 | 609557 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PREPL CL E G H | 9581 | 163693 | | | | ORPHA | 1 | | 495 | 30228 | 609557 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PRPS1 CL E G H | 5631 | 301835 | Arts syndrome | 301835 | C0796028 | OMIM | 1 | | 303 | 9462 | 311850 |
HP:0001510 | HP:0001510 | Growth delay | 0 | PRPS1 CL E G H | 5631 | 301835 | Arts syndrome | 301835 | C0796028 | OMIM | 1 | | 321 | 9462 | 311850 |
HP:0001510 | HP:0001510 | Growth delay | 0 | RAD51 CL E G H | 5888 | 617244 | Fanconi anemia, complementation group R | 617244 | C4284093 | OMIM | 1 | | 72 | 9817 | 179617 |
HP:0001510 | HP:0001510 | Growth delay | 0 | RAD51 CL E G H | 5888 | 617244 | Fanconi anemia, complementation group R | 617244 | C4284093 | OMIM | 1 | | 81 | 9817 | 179617 |
HP:0001510 | HP:0001510 | Growth delay | 0 | RBBP8 CL E G H | 5932 | 606744 | Seckel syndrome 2 | 606744 | C1847572 | OMIM | 1 | | 157 | 9891 | 604124 |
HP:0001510 | HP:0001510 | Growth delay | 0 | RBBP8 CL E G H | 5932 | 606744 | Seckel syndrome 2 | 606744 | C1847572 | OMIM | 1 | | 211 | 9891 | 604124 |
HP:0001510 | HP:0001510 | Growth delay | 0 | RBCK1 CL E G H | 10616 | 615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | 615895 | C4014605 | OMIM | 1 | | 263 | 15864 | 610924 |
HP:0001510 | HP:0001510 | Growth delay | 0 | RBCK1 CL E G H | 10616 | 615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | 615895 | C4014605 | OMIM | 1 | | 312 | 15864 | 610924 |
HP:0001510 | HP:0001510 | Growth delay | 0 | RECQL4 CL E G H | 9401 | 221016 | | | | ORPHA | 1 | | 2751 | 9949 | 603780 |
HP:0001510 | HP:0001510 | Growth delay | 0 | RECQL4 CL E G H | 9401 | 221016 | | | | ORPHA | 1 | | 3274 | 9949 | 603780 |
HP:0001510 | HP:0001510 | Growth delay | 0 | RLIM CL E G H | 51132 | 300978 | Mental retardation, X-linked 61 | 300978 | C4283894 | OMIM | 1 | | 181 | 13429 | 300379 |
HP:0001510 | HP:0001510 | Growth delay | 0 | RLIM CL E G H | 51132 | 300978 | Mental retardation, X-linked 61 | 300978 | C4283894 | OMIM | 1 | | 185 | 13429 | 300379 |
HP:0001510 | HP:0001510 | Growth delay | 0 | RPGRIP1L CL E G H | 23322 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 794 | 29168 | 610937 |
HP:0001510 | HP:0001510 | Growth delay | 0 | RPGRIP1L CL E G H | 23322 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 964 | 29168 | 610937 |
HP:0001510 | HP:0001510 | Growth delay | 0 | RPL5 CL E G H | 6125 | 612561 | Aase syndrome | 612561 | C0265265 | OMIM | 1 | | 137 | 10360 | 603634 |
HP:0001510 | HP:0001510 | Growth delay | 0 | RPL5 CL E G H | 6125 | 612561 | Aase syndrome | 612561 | C0265265 | OMIM | 1 | | 164 | 10360 | 603634 |
HP:0001510 | HP:0001510 | Growth delay | 0 | RPS10 CL E G H | 6204 | 613308 | Diamond-Blackfan anemia 9 | 613308 | C2750081 | OMIM | 1 | | 84 | 10383 | 603632 |
HP:0001510 | HP:0001510 | Growth delay | 0 | RPS10 CL E G H | 6204 | 613308 | Diamond-Blackfan anemia 9 | 613308 | C2750081 | OMIM | 1 | | 95 | 10383 | 603632 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SAR1B CL E G H | 51128 | 246700 | Chylomicron retention disease | 246700 | C0795956 | OMIM | 1 | | 58 | 10535 | 607690 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SAR1B CL E G H | 51128 | 246700 | Chylomicron retention disease | 246700 | C0795956 | OMIM | 1 | | 82 | 10535 | 607690 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SAR1B CL E G H | 51128 | 71 | Human granulocytic ehrlichiosis | | | ORPHA | 1 | | 58 | 10535 | 607690 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SAR1B CL E G H | 51128 | 71 | Human granulocytic ehrlichiosis | | | ORPHA | 1 | | 82 | 10535 | 607690 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SH3PXD2B CL E G H | 285590 | 249420 | Frank Ter Haar syndrome | 249420 | C1855305 | OMIM | 1 | | 341 | 29242 | 613293 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SH3PXD2B CL E G H | 285590 | 249420 | Frank Ter Haar syndrome | 249420 | C1855305 | OMIM | 1 | | 385 | 29242 | 613293 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SIN3A CL E G H | 25942 | 613406 | Witteveen-kolk syndrome | 613406 | C3150674 | OMIM | 1 | | 165 | 19353 | 607776 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SIN3A CL E G H | 25942 | 613406 | Witteveen-kolk syndrome | 613406 | C3150674 | OMIM | 1 | | 185 | 19353 | 607776 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SLC10A2 CL E G H | 6555 | 613291 | Bile acid malabsorption, primary | 613291 | C2750087 | OMIM | 1 | | 164 | 10906 | 601295 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SLC10A2 CL E G H | 6555 | 613291 | Bile acid malabsorption, primary | 613291 | C2750087 | OMIM | 1 | | 169 | 10906 | 601295 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SLC17A5 CL E G H | 26503 | 604369 | Salla disease | 604369 | C1096903 | OMIM | 1 | | 285 | 10933 | 604322 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SLC17A5 CL E G H | 26503 | 604369 | Salla disease | 604369 | C1096903 | OMIM | 1 | | 335 | 10933 | 604322 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SLC25A13 CL E G H | 10165 | 605814 | Neonatal intrahepatic cholestasis caused by citrin deficiency | 605814 | C1853942 | OMIM | 1 | | 393 | 10983 | 603859 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SLC25A13 CL E G H | 10165 | 605814 | Neonatal intrahepatic cholestasis caused by citrin deficiency | 605814 | C1853942 | OMIM | 1 | | 451 | 10983 | 603859 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SLC26A3 CL E G H | 1811 | 214700 | Congenital secretory diarrhea, chloride type | 214700 | C0267662 | OMIM | 1 | | 199 | 3018 | 126650 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SLC26A3 CL E G H | 1811 | 214700 | Congenital secretory diarrhea, chloride type | 214700 | C0267662 | OMIM | 1 | | 283 | 3018 | 126650 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SLC34A3 CL E G H | 142680 | 241530 | Autosomal recessive hypophosphatemic bone disease | 241530 | C1853271 | OMIM | 1 | | 288 | 20305 | 609826 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SLC34A3 CL E G H | 142680 | 241530 | Autosomal recessive hypophosphatemic bone disease | 241530 | C1853271 | OMIM | 1 | | 338 | 20305 | 609826 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SLC3A1 CL E G H | 6519 | 163690 | | | | ORPHA | 1 | | 265 | 11025 | 104614 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SLC3A1 CL E G H | 6519 | 163690 | | | | ORPHA | 1 | | 295 | 11025 | 104614 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SLC3A1 CL E G H | 6519 | 163693 | | | | ORPHA | 1 | | 265 | 11025 | 104614 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SLC3A1 CL E G H | 6519 | 163693 | | | | ORPHA | 1 | | 295 | 11025 | 104614 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SLC4A4 CL E G H | 8671 | 604278 | Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation | 604278 | C1970309 | OMIM | 1 | | 225 | 11030 | 603345 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SLC4A4 CL E G H | 8671 | 604278 | Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation | 604278 | C1970309 | OMIM | 1 | | 231 | 11030 | 603345 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SLC5A5 CL E G H | 6528 | 274400 | Thyroid dyshormonogenesis 1 | 274400 | C1848805 | OMIM | 1 | | 147 | 11040 | 601843 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SLC5A5 CL E G H | 6528 | 274400 | Thyroid dyshormonogenesis 1 | 274400 | C1848805 | OMIM | 1 | | 149 | 11040 | 601843 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SMG9 CL E G H | 56006 | 616920 | Heart and brain malformation syndrome | 616920 | C4310793 | OMIM | 1 | | 33 | 25763 | 613176 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SMG9 CL E G H | 56006 | 616920 | Heart and brain malformation syndrome | 616920 | C4310793 | OMIM | 1 | | 34 | 25763 | 613176 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SMOC1 CL E G H | 64093 | 206920 | Anophthalmos with limb anomalies | 206920 | C0599973 | OMIM | 1 | | 80 | 20318 | 608488 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SMOC1 CL E G H | 64093 | 206920 | Anophthalmos with limb anomalies | 206920 | C0599973 | OMIM | 1 | | 81 | 20318 | 608488 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SNX10 CL E G H | 29887 | 667 | | | | ORPHA | 1 | | 56 | 14974 | 614780 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SNX10 CL E G H | 29887 | 667 | | | | ORPHA | 1 | | 89 | 14974 | 614780 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SOX11 CL E G H | 6664 | 615866 | Mental retardation, autosomal dominant 27 | 615866 | C4014528 | OMIM | 1 | | 93 | 11191 | 600898 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SOX11 CL E G H | 6664 | 615866 | Mental retardation, autosomal dominant 27 | 615866 | C4014528 | OMIM | 1 | | 109 | 11191 | 600898 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SPR CL E G H | 6697 | 612716 | Sepiapterin reductase deficiency | 612716 | C0268468 | OMIM | 1 | | 128 | 11257 | 182125 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SPR CL E G H | 6697 | 612716 | Sepiapterin reductase deficiency | 612716 | C0268468 | OMIM | 1 | | 145 | 11257 | 182125 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 164 | 11449 | 611224 |
HP:0001510 | HP:0001510 | Growth delay | 0 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 190 | 11449 | 611224 |
HP:0001510 | HP:0001510 | Growth delay | 0 | TAT CL E G H | 6898 | 276600 | Tyrosinemia type 2 | 276600 | C0268487 | OMIM | 1 | | 217 | 11573 | 613018 |
HP:0001510 | HP:0001510 | Growth delay | 0 | TAT CL E G H | 6898 | 276600 | Tyrosinemia type 2 | 276600 | C0268487 | OMIM | 1 | | 235 | 11573 | 613018 |
HP:0001510 | HP:0001510 | Growth delay | 0 | TAZ CL E G H | 6901 | 302060 | 3-Methylglutaconic aciduria type 2 | 302060 | C0574083 | OMIM | 1 | | | 11577 | 300394 |
HP:0001510 | HP:0001510 | Growth delay | 0 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 103 | 11590 | 604616 |
HP:0001510 | HP:0001510 | Growth delay | 0 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 105 | 11590 | 604616 |
HP:0001510 | HP:0001510 | Growth delay | 0 | TCIRG1 CL E G H | 10312 | 667 | | | | ORPHA | 1 | | 544 | 11647 | 604592 |
HP:0001510 | HP:0001510 | Growth delay | 0 | TCIRG1 CL E G H | 10312 | 667 | | | | ORPHA | 1 | | 674 | 11647 | 604592 |
HP:0001510 | HP:0001510 | Growth delay | 0 | THRA CL E G H | 7067 | 614450 | Hypothyroidism, congenital, nongoitrous, 6 | 614450 | C3280817 | OMIM | 1 | | 44 | 11796 | 190120 |
HP:0001510 | HP:0001510 | Growth delay | 0 | TMEM173 CL E G H | 340061 | 615934 | Sting-associated vasculopathy, infantile-onset | 615934 | C4014722 | OMIM | 1 | | | 27962 | 612374 |
HP:0001510 | HP:0001510 | Growth delay | 0 | TMEM237 CL E G H | 65062 | 614424 | Joubert syndrome 14 | 614424 | C3280766 | OMIM | 1 | | 301 | 14432 | 614423 |
HP:0001510 | HP:0001510 | Growth delay | 0 | TMEM237 CL E G H | 65062 | 614424 | Joubert syndrome 14 | 614424 | C3280766 | OMIM | 1 | | 359 | 14432 | 614423 |
HP:0001510 | HP:0001510 | Growth delay | 0 | TMEM67 CL E G H | 91147 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 402 | 28396 | 609884 |
HP:0001510 | HP:0001510 | Growth delay | 0 | TMEM67 CL E G H | 91147 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 569 | 28396 | 609884 |
HP:0001510 | HP:0001510 | Growth delay | 0 | TMEM67 CL E G H | 91147 | 613550 | Nephronophthisis 11 | 613550 | C3150796 | OMIM | 1 | | 402 | 28396 | 609884 |
HP:0001510 | HP:0001510 | Growth delay | 0 | TMEM67 CL E G H | 91147 | 613550 | Nephronophthisis 11 | 613550 | C3150796 | OMIM | 1 | | 569 | 28396 | 609884 |
HP:0001510 | HP:0001510 | Growth delay | 0 | TNFSF11 CL E G H | 8600 | 667 | | | | ORPHA | 1 | | 129 | 11926 | 602642 |
HP:0001510 | HP:0001510 | Growth delay | 0 | TNFSF11 CL E G H | 8600 | 667 | | | | ORPHA | 1 | | 166 | 11926 | 602642 |
HP:0001510 | HP:0001510 | Growth delay | 0 | TRHR CL E G H | 7201 | 99832 | | | | ORPHA | 1 | | 49 | 12299 | 188545 |
HP:0001510 | HP:0001510 | Growth delay | 0 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 35 | 12382 | 604714 |
HP:0001510 | HP:0001510 | Growth delay | 0 | TSPYL1 CL E G H | 7259 | 168593 | | | | ORPHA | 1 | | 37 | 12382 | 604714 |
HP:0001510 | HP:0001510 | Growth delay | 0 | TSPYL1 CL E G H | 7259 | 608800 | Sudden infant death with dysgenesis of the testes syndrome | 608800 | C1837371 | OMIM | 1 | | 35 | 12382 | 604714 |
HP:0001510 | HP:0001510 | Growth delay | 0 | TSPYL1 CL E G H | 7259 | 608800 | Sudden infant death with dysgenesis of the testes syndrome | 608800 | C1837371 | OMIM | 1 | | 37 | 12382 | 604714 |
HP:0001510 | HP:0001510 | Growth delay | 0 | UBE3B CL E G H | 89910 | 2707 | | | | ORPHA | 1 | | 69 | 13478 | 608047 |
HP:0001510 | HP:0001510 | Growth delay | 0 | UBE3B CL E G H | 89910 | 2707 | | | | ORPHA | 1 | | 77 | 13478 | 608047 |
HP:0001510 | HP:0001510 | Growth delay | 0 | UFC1 CL E G H | 51506 | 618076 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH | 618076 | CN252685 | OMIM | 1 | | 20 | 26941 | 610554 |
HP:0001510 | HP:0001510 | Growth delay | 0 | UFC1 CL E G H | 51506 | 618076 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH | 618076 | CN252685 | OMIM | 1 | | 22 | 26941 | 610554 |
HP:0001510 | HP:0001510 | Growth delay | 0 | UQCC3 CL E G H | 790955 | 616111 | Mitochondrial complex III deficiency, nuclear type 9 | 616111 | C4015253 | OMIM | 1 | | 26 | 34399 | 616097 |
HP:0001510 | HP:0001510 | Growth delay | 0 | UQCC3 CL E G H | 790955 | 616111 | Mitochondrial complex III deficiency, nuclear type 9 | 616111 | C4015253 | OMIM | 1 | | 27 | 34399 | 616097 |
HP:0001510 | HP:0001510 | Growth delay | 0 | VDR CL E G H | 7421 | 277440 | Vitamin D-dependent rickets, type 2 | 277440 | C0342646 | OMIM | 1 | | 239 | 12679 | 601769 |
HP:0001510 | HP:0001510 | Growth delay | 0 | VDR CL E G H | 7421 | 277440 | Vitamin D-dependent rickets, type 2 | 277440 | C0342646 | OMIM | 1 | | 256 | 12679 | 601769 |
HP:0001510 | HP:0001510 | Growth delay | 0 | VPS11 CL E G H | 55823 | 466934 | | | | ORPHA | 1 | | 72 | 14583 | 608549 |
HP:0001510 | HP:0001510 | Growth delay | 0 | VPS11 CL E G H | 55823 | 466934 | | | | ORPHA | 1 | | 105 | 14583 | 608549 |
HP:0001510 | HP:0001510 | Growth delay | 0 | WFS1 CL E G H | 7466 | 222300 | Diabetes mellitus AND insipidus with optic atrophy AND deafness | 222300 | C0043207 | OMIM | 1 | | 929 | 12762 | 606201 |
HP:0001510 | HP:0001510 | Growth delay | 0 | WFS1 CL E G H | 7466 | 222300 | Diabetes mellitus AND insipidus with optic atrophy AND deafness | 222300 | C0043207 | OMIM | 1 | | 1121 | 12762 | 606201 |
HP:0001510 | HP:0001510 | Growth delay | 0 | WNT4 CL E G H | 54361 | 139466 | | | | ORPHA | 1 | | 35 | 12783 | 603490 |
HP:0001510 | HP:0001510 | Growth delay | 0 | WNT4 CL E G H | 54361 | 139466 | | | | ORPHA | 1 | | 41 | 12783 | 603490 |
HP:0001510 | HP:0001510 | Growth delay | 0 | XRCC2 CL E G H | 7516 | 617247 | Fanconi anemia, complementation group U | 617247 | C4310651 | OMIM | 1 | | 413 | 12829 | 600375 |
HP:0001510 | HP:0001510 | Growth delay | 0 | XRCC2 CL E G H | 7516 | 617247 | Fanconi anemia, complementation group U | 617247 | C4310651 | OMIM | 1 | | 447 | 12829 | 600375 |
HP:0001510 | HP:0001510 | Growth delay | 0 | XRCC4 CL E G H | 7518 | 99812 | | | | ORPHA | 1 | | 54 | 12831 | 194363 |
HP:0001510 | HP:0001510 | Growth delay | 0 | XRCC4 CL E G H | 7518 | 99812 | | | | ORPHA | 1 | | 68 | 12831 | 194363 |
HP:0001510 | HP:0001510 | Growth delay | 0 | YARS2 CL E G H | 51067 | 613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | 613561 | C3150802 | OMIM | 1 | | 243 | 24249 | 610957 |
HP:0001510 | HP:0001510 | Growth delay | 0 | YARS2 CL E G H | 51067 | 613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | 613561 | C3150802 | OMIM | 1 | | 291 | 24249 | 610957 |
HP:0001510 | HP:0001510 | Growth delay | 0 | YWHAE CL E G H | 7531 | 531 | Acute myeloblastic leukemia type 6 | | | ORPHA | 1 | | 163 | 12851 | 605066 |
HP:0001510 | HP:0001510 | Growth delay | 0 | YWHAE CL E G H | 7531 | 531 | Acute myeloblastic leukemia type 6 | | | ORPHA | 1 | | 172 | 12851 | 605066 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ZBTB24 CL E G H | 9841 | 614069 | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 614069 | C3279748 | OMIM | 1 | | 174 | 21143 | 614064 |
HP:0001510 | HP:0001510 | Growth delay | 0 | ZBTB24 CL E G H | 9841 | 614069 | Immunodeficiency-centromeric instability-facial anomalies syndrome 2 | 614069 | C3279748 | OMIM | 1 | | 212 | 21143 | 614064 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 259 | 68 | 603214 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 285 | 68 | 603214 |
HP:0001510 | HP:0004322 | Short stature | 1 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 259 | 68 | 603214 |
HP:0001510 | HP:0004322 | Short stature | 1 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 285 | 68 | 603214 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 259 | 68 | 603214 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 285 | 68 | 603214 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 259 | 68 | 603214 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 285 | 68 | 603214 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 259 | 68 | 603214 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 285 | 68 | 603214 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | ACACA CL E G H | 31 | 613933 | Acetyl-CoA: carboxylase deficiency | 613933 | C0268603 | OMIM | 1 | | 141 | 84 | 200350 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | ACACA CL E G H | 31 | 613933 | Acetyl-CoA: carboxylase deficiency | 613933 | C0268603 | OMIM | 1 | | 153 | 84 | 200350 |
HP:0001510 | HP:0004322 | Short stature | 1 | ACACA CL E G H | 31 | 613933 | Acetyl-CoA: carboxylase deficiency | 613933 | C0268603 | OMIM | 1 | | 141 | 84 | 200350 |
HP:0001510 | HP:0004322 | Short stature | 1 | ACACA CL E G H | 31 | 613933 | Acetyl-CoA: carboxylase deficiency | 613933 | C0268603 | OMIM | 1 | | 153 | 84 | 200350 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | ACACA CL E G H | 31 | 613933 | Acetyl-CoA: carboxylase deficiency | 613933 | C0268603 | OMIM | 1 | | 141 | 84 | 200350 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | ACACA CL E G H | 31 | 613933 | Acetyl-CoA: carboxylase deficiency | 613933 | C0268603 | OMIM | 1 | | 153 | 84 | 200350 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | ACACA CL E G H | 31 | 613933 | Acetyl-CoA: carboxylase deficiency | 613933 | C0268603 | OMIM | 1 | | 141 | 84 | 200350 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | ACACA CL E G H | 31 | 613933 | Acetyl-CoA: carboxylase deficiency | 613933 | C0268603 | OMIM | 1 | | 153 | 84 | 200350 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | ACACA CL E G H | 31 | 613933 | Acetyl-CoA: carboxylase deficiency | 613933 | C0268603 | OMIM | 1 | | 141 | 84 | 200350 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | ACACA CL E G H | 31 | 613933 | Acetyl-CoA: carboxylase deficiency | 613933 | C0268603 | OMIM | 1 | | 153 | 84 | 200350 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 322 | 132 | 102630 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 349 | 132 | 102630 |
HP:0001510 | HP:0004322 | Short stature | 1 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 322 | 132 | 102630 |
HP:0001510 | HP:0004322 | Short stature | 1 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 349 | 132 | 102630 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 322 | 132 | 102630 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 349 | 132 | 102630 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 322 | 132 | 102630 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 349 | 132 | 102630 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 322 | 132 | 102630 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 349 | 132 | 102630 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 347 | 144 | 102560 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 370 | 144 | 102560 |
HP:0001510 | HP:0004322 | Short stature | 1 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 347 | 144 | 102560 |
HP:0001510 | HP:0004322 | Short stature | 1 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 370 | 144 | 102560 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 347 | 144 | 102560 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 370 | 144 | 102560 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 347 | 144 | 102560 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 370 | 144 | 102560 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 347 | 144 | 102560 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 370 | 144 | 102560 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 368 | 291 | 608222 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 582 | 291 | 608222 |
HP:0001510 | HP:0004322 | Short stature | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 368 | 291 | 608222 |
HP:0001510 | HP:0004322 | Short stature | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 582 | 291 | 608222 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 368 | 291 | 608222 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 582 | 291 | 608222 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 368 | 291 | 608222 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 582 | 291 | 608222 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 368 | 291 | 608222 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 582 | 291 | 608222 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | AGK CL E G H | 55750 | 212350 | Cataract and cardiomyopathy | 212350 | C1859317 | OMIM | 1 | | 220 | 21869 | 610345 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | AGK CL E G H | 55750 | 212350 | Cataract and cardiomyopathy | 212350 | C1859317 | OMIM | 1 | | 236 | 21869 | 610345 |
HP:0001510 | HP:0004322 | Short stature | 1 | AGK CL E G H | 55750 | 212350 | Cataract and cardiomyopathy | 212350 | C1859317 | OMIM | 1 | | 220 | 21869 | 610345 |
HP:0001510 | HP:0004322 | Short stature | 1 | AGK CL E G H | 55750 | 212350 | Cataract and cardiomyopathy | 212350 | C1859317 | OMIM | 1 | | 236 | 21869 | 610345 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | AGK CL E G H | 55750 | 212350 | Cataract and cardiomyopathy | 212350 | C1859317 | OMIM | 1 | | 220 | 21869 | 610345 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | AGK CL E G H | 55750 | 212350 | Cataract and cardiomyopathy | 212350 | C1859317 | OMIM | 1 | | 236 | 21869 | 610345 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | AGK CL E G H | 55750 | 212350 | Cataract and cardiomyopathy | 212350 | C1859317 | OMIM | 1 | | 220 | 21869 | 610345 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | AGK CL E G H | 55750 | 212350 | Cataract and cardiomyopathy | 212350 | C1859317 | OMIM | 1 | | 236 | 21869 | 610345 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | AGK CL E G H | 55750 | 212350 | Cataract and cardiomyopathy | 212350 | C1859317 | OMIM | 1 | | 220 | 21869 | 610345 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | AGK CL E G H | 55750 | 212350 | Cataract and cardiomyopathy | 212350 | C1859317 | OMIM | 1 | | 236 | 21869 | 610345 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 113 | 343 | 180960 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 126 | 343 | 180960 |
HP:0001510 | HP:0004322 | Short stature | 1 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 113 | 343 | 180960 |
HP:0001510 | HP:0004322 | Short stature | 1 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 126 | 343 | 180960 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 113 | 343 | 180960 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 126 | 343 | 180960 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 113 | 343 | 180960 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 126 | 343 | 180960 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 113 | 343 | 180960 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 126 | 343 | 180960 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 285 | 430 | 603741 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 291 | 430 | 603741 |
HP:0001510 | HP:0004322 | Short stature | 1 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 285 | 430 | 603741 |
HP:0001510 | HP:0004322 | Short stature | 1 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 291 | 430 | 603741 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 285 | 430 | 603741 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 291 | 430 | 603741 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 285 | 430 | 603741 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 291 | 430 | 603741 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 285 | 430 | 603741 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 291 | 430 | 603741 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 202 | 13743 | 607206 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 209 | 13743 | 607206 |
HP:0001510 | HP:0004322 | Short stature | 1 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 202 | 13743 | 607206 |
HP:0001510 | HP:0004322 | Short stature | 1 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 209 | 13743 | 607206 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 202 | 13743 | 607206 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 209 | 13743 | 607206 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 202 | 13743 | 607206 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 209 | 13743 | 607206 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 202 | 13743 | 607206 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 209 | 13743 | 607206 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | ANTXR1 CL E G H | 84168 | 230740 | Odontotrichomelic syndrome | 230740 | C0406723 | OMIM | 1 | | 83 | 21014 | 606410 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | ANTXR1 CL E G H | 84168 | 230740 | Odontotrichomelic syndrome | 230740 | C0406723 | OMIM | 1 | | 84 | 21014 | 606410 |
HP:0001510 | HP:0004322 | Short stature | 1 | ANTXR1 CL E G H | 84168 | 230740 | Odontotrichomelic syndrome | 230740 | C0406723 | OMIM | 1 | | 83 | 21014 | 606410 |
HP:0001510 | HP:0004322 | Short stature | 1 | ANTXR1 CL E G H | 84168 | 230740 | Odontotrichomelic syndrome | 230740 | C0406723 | OMIM | 1 | | 84 | 21014 | 606410 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | ANTXR1 CL E G H | 84168 | 230740 | Odontotrichomelic syndrome | 230740 | C0406723 | OMIM | 1 | | 83 | 21014 | 606410 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | ANTXR1 CL E G H | 84168 | 230740 | Odontotrichomelic syndrome | 230740 | C0406723 | OMIM | 1 | | 84 | 21014 | 606410 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | ANTXR1 CL E G H | 84168 | 230740 | Odontotrichomelic syndrome | 230740 | C0406723 | OMIM | 1 | | 83 | 21014 | 606410 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | ANTXR1 CL E G H | 84168 | 230740 | Odontotrichomelic syndrome | 230740 | C0406723 | OMIM | 1 | | 84 | 21014 | 606410 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | ANTXR1 CL E G H | 84168 | 230740 | Odontotrichomelic syndrome | 230740 | C0406723 | OMIM | 1 | | 83 | 21014 | 606410 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | ANTXR1 CL E G H | 84168 | 230740 | Odontotrichomelic syndrome | 230740 | C0406723 | OMIM | 1 | | 84 | 21014 | 606410 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 53 | 559 | 603531 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 55 | 559 | 603531 |
HP:0001510 | HP:0004322 | Short stature | 1 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 53 | 559 | 603531 |
HP:0001510 | HP:0004322 | Short stature | 1 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 55 | 559 | 603531 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 53 | 559 | 603531 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 55 | 559 | 603531 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 53 | 559 | 603531 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 55 | 559 | 603531 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 53 | 559 | 603531 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 55 | 559 | 603531 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | ATP6V0A4 CL E G H | 50617 | 602722 | Renal tubular acidosis, distal, autosomal recessive | 602722 | C1864498 | OMIM | 1 | | 298 | 866 | 605239 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | ATP6V0A4 CL E G H | 50617 | 602722 | Renal tubular acidosis, distal, autosomal recessive | 602722 | C1864498 | OMIM | 1 | | 320 | 866 | 605239 |
HP:0001510 | HP:0004322 | Short stature | 1 | ATP6V0A4 CL E G H | 50617 | 602722 | Renal tubular acidosis, distal, autosomal recessive | 602722 | C1864498 | OMIM | 1 | | 298 | 866 | 605239 |
HP:0001510 | HP:0004322 | Short stature | 1 | ATP6V0A4 CL E G H | 50617 | 602722 | Renal tubular acidosis, distal, autosomal recessive | 602722 | C1864498 | OMIM | 1 | | 320 | 866 | 605239 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | ATP6V0A4 CL E G H | 50617 | 602722 | Renal tubular acidosis, distal, autosomal recessive | 602722 | C1864498 | OMIM | 1 | | 298 | 866 | 605239 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | ATP6V0A4 CL E G H | 50617 | 602722 | Renal tubular acidosis, distal, autosomal recessive | 602722 | C1864498 | OMIM | 1 | | 320 | 866 | 605239 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | ATP6V0A4 CL E G H | 50617 | 602722 | Renal tubular acidosis, distal, autosomal recessive | 602722 | C1864498 | OMIM | 1 | | 298 | 866 | 605239 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | ATP6V0A4 CL E G H | 50617 | 602722 | Renal tubular acidosis, distal, autosomal recessive | 602722 | C1864498 | OMIM | 1 | | 320 | 866 | 605239 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | ATP6V0A4 CL E G H | 50617 | 602722 | Renal tubular acidosis, distal, autosomal recessive | 602722 | C1864498 | OMIM | 1 | | 298 | 866 | 605239 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | ATP6V0A4 CL E G H | 50617 | 602722 | Renal tubular acidosis, distal, autosomal recessive | 602722 | C1864498 | OMIM | 1 | | 320 | 866 | 605239 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1103 | 886 | 300032 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1217 | 886 | 300032 |
HP:0001510 | HP:0004322 | Short stature | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1103 | 886 | 300032 |
HP:0001510 | HP:0004322 | Short stature | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1217 | 886 | 300032 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1103 | 886 | 300032 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1217 | 886 | 300032 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1103 | 886 | 300032 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1217 | 886 | 300032 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1103 | 886 | 300032 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1217 | 886 | 300032 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | AVP CL E G H | 551 | 30925 | | | | ORPHA | 1 | | 76 | 894 | 192340 |
HP:0001510 | HP:0004322 | Short stature | 1 | AVP CL E G H | 551 | 30925 | | | | ORPHA | 1 | | 76 | 894 | 192340 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | AVP CL E G H | 551 | 30925 | | | | ORPHA | 1 | | 76 | 894 | 192340 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | AVP CL E G H | 551 | 30925 | | | | ORPHA | 1 | | 76 | 894 | 192340 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | AVP CL E G H | 551 | 30925 | | | | ORPHA | 1 | | 76 | 894 | 192340 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | BCOR CL E G H | 54880 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | BCOR CL E G H | 54880 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0001510 | HP:0004322 | Short stature | 1 | BCOR CL E G H | 54880 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0001510 | HP:0004322 | Short stature | 1 | BCOR CL E G H | 54880 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | BCOR CL E G H | 54880 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | BCOR CL E G H | 54880 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | BCOR CL E G H | 54880 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | BCOR CL E G H | 54880 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | BCOR CL E G H | 54880 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | BCOR CL E G H | 54880 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 32 | 26276 | 609559 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 33 | 26276 | 609559 |
HP:0001510 | HP:0004322 | Short stature | 1 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 32 | 26276 | 609559 |
HP:0001510 | HP:0004322 | Short stature | 1 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 33 | 26276 | 609559 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 32 | 26276 | 609559 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 33 | 26276 | 609559 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 32 | 26276 | 609559 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 33 | 26276 | 609559 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 32 | 26276 | 609559 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 33 | 26276 | 609559 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 881 | 29253 | 612013 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1064 | 29253 | 612013 |
HP:0001510 | HP:0004322 | Short stature | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 881 | 29253 | 612013 |
HP:0001510 | HP:0004322 | Short stature | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1064 | 29253 | 612013 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 881 | 29253 | 612013 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1064 | 29253 | 612013 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 881 | 29253 | 612013 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1064 | 29253 | 612013 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 881 | 29253 | 612013 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1064 | 29253 | 612013 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CD55 CL E G H | 1604 | 226300 | Protein-losing enteropathy | 226300 | C0033680 | OMIM | 1 | | 49 | 2665 | 125240 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CD55 CL E G H | 1604 | 226300 | Protein-losing enteropathy | 226300 | C0033680 | OMIM | 1 | | 98 | 2665 | 125240 |
HP:0001510 | HP:0004322 | Short stature | 1 | CD55 CL E G H | 1604 | 226300 | Protein-losing enteropathy | 226300 | C0033680 | OMIM | 1 | | 49 | 2665 | 125240 |
HP:0001510 | HP:0004322 | Short stature | 1 | CD55 CL E G H | 1604 | 226300 | Protein-losing enteropathy | 226300 | C0033680 | OMIM | 1 | | 98 | 2665 | 125240 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CD55 CL E G H | 1604 | 226300 | Protein-losing enteropathy | 226300 | C0033680 | OMIM | 1 | | 49 | 2665 | 125240 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CD55 CL E G H | 1604 | 226300 | Protein-losing enteropathy | 226300 | C0033680 | OMIM | 1 | | 98 | 2665 | 125240 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CD55 CL E G H | 1604 | 226300 | Protein-losing enteropathy | 226300 | C0033680 | OMIM | 1 | | 49 | 2665 | 125240 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CD55 CL E G H | 1604 | 226300 | Protein-losing enteropathy | 226300 | C0033680 | OMIM | 1 | | 98 | 2665 | 125240 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CD55 CL E G H | 1604 | 226300 | Protein-losing enteropathy | 226300 | C0033680 | OMIM | 1 | | 49 | 2665 | 125240 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CD55 CL E G H | 1604 | 226300 | Protein-losing enteropathy | 226300 | C0033680 | OMIM | 1 | | 98 | 2665 | 125240 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CLCN7 CL E G H | 1186 | 667 | | | | ORPHA | 1 | | 388 | 2025 | 602727 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CLCN7 CL E G H | 1186 | 667 | | | | ORPHA | 1 | | 549 | 2025 | 602727 |
HP:0001510 | HP:0004322 | Short stature | 1 | CLCN7 CL E G H | 1186 | 667 | | | | ORPHA | 1 | | 388 | 2025 | 602727 |
HP:0001510 | HP:0004322 | Short stature | 1 | CLCN7 CL E G H | 1186 | 667 | | | | ORPHA | 1 | | 549 | 2025 | 602727 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CLCN7 CL E G H | 1186 | 667 | | | | ORPHA | 1 | | 388 | 2025 | 602727 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CLCN7 CL E G H | 1186 | 667 | | | | ORPHA | 1 | | 549 | 2025 | 602727 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CLCN7 CL E G H | 1186 | 667 | | | | ORPHA | 1 | | 388 | 2025 | 602727 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CLCN7 CL E G H | 1186 | 667 | | | | ORPHA | 1 | | 549 | 2025 | 602727 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CLCN7 CL E G H | 1186 | 667 | | | | ORPHA | 1 | | 388 | 2025 | 602727 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CLCN7 CL E G H | 1186 | 667 | | | | ORPHA | 1 | | 549 | 2025 | 602727 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 40 | 16999 | 608757 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 49 | 16999 | 608757 |
HP:0001510 | HP:0004322 | Short stature | 1 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 40 | 16999 | 608757 |
HP:0001510 | HP:0004322 | Short stature | 1 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 49 | 16999 | 608757 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 40 | 16999 | 608757 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 49 | 16999 | 608757 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 40 | 16999 | 608757 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 49 | 16999 | 608757 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 40 | 16999 | 608757 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 49 | 16999 | 608757 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 40 | 16999 | 608757 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 49 | 16999 | 608757 |
HP:0001510 | HP:0004322 | Short stature | 1 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 40 | 16999 | 608757 |
HP:0001510 | HP:0004322 | Short stature | 1 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 49 | 16999 | 608757 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 40 | 16999 | 608757 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 49 | 16999 | 608757 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 40 | 16999 | 608757 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 49 | 16999 | 608757 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 40 | 16999 | 608757 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CLP1 CL E G H | 10978 | 615803 | Pontocerebellar hypoplasia, type 10 | 615803 | C4014347 | OMIM | 1 | | 49 | 16999 | 608757 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 337 | 30664 | 616254 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 404 | 30664 | 616254 |
HP:0001510 | HP:0004322 | Short stature | 1 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 337 | 30664 | 616254 |
HP:0001510 | HP:0004322 | Short stature | 1 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 404 | 30664 | 616254 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 337 | 30664 | 616254 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 404 | 30664 | 616254 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 337 | 30664 | 616254 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 404 | 30664 | 616254 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 337 | 30664 | 616254 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 404 | 30664 | 616254 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 221 | 18620 | 606976 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 247 | 18620 | 606976 |
HP:0001510 | HP:0004322 | Short stature | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 221 | 18620 | 606976 |
HP:0001510 | HP:0004322 | Short stature | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 247 | 18620 | 606976 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 221 | 18620 | 606976 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 247 | 18620 | 606976 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 221 | 18620 | 606976 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 247 | 18620 | 606976 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 221 | 18620 | 606976 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 247 | 18620 | 606976 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | COL7A1 CL E G H | 1294 | 226600 | Recessive dystrophic epidermolysis bullosa | 226600 | C0079474 | OMIM | 1 | | 1658 | 2214 | 120120 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | COL7A1 CL E G H | 1294 | 226600 | Recessive dystrophic epidermolysis bullosa | 226600 | C0079474 | OMIM | 1 | | 2028 | 2214 | 120120 |
HP:0001510 | HP:0004322 | Short stature | 1 | COL7A1 CL E G H | 1294 | 226600 | Recessive dystrophic epidermolysis bullosa | 226600 | C0079474 | OMIM | 1 | | 1658 | 2214 | 120120 |
HP:0001510 | HP:0004322 | Short stature | 1 | COL7A1 CL E G H | 1294 | 226600 | Recessive dystrophic epidermolysis bullosa | 226600 | C0079474 | OMIM | 1 | | 2028 | 2214 | 120120 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | COL7A1 CL E G H | 1294 | 226600 | Recessive dystrophic epidermolysis bullosa | 226600 | C0079474 | OMIM | 1 | | 1658 | 2214 | 120120 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | COL7A1 CL E G H | 1294 | 226600 | Recessive dystrophic epidermolysis bullosa | 226600 | C0079474 | OMIM | 1 | | 2028 | 2214 | 120120 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | COL7A1 CL E G H | 1294 | 226600 | Recessive dystrophic epidermolysis bullosa | 226600 | C0079474 | OMIM | 1 | | 1658 | 2214 | 120120 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | COL7A1 CL E G H | 1294 | 226600 | Recessive dystrophic epidermolysis bullosa | 226600 | C0079474 | OMIM | 1 | | 2028 | 2214 | 120120 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | COL7A1 CL E G H | 1294 | 226600 | Recessive dystrophic epidermolysis bullosa | 226600 | C0079474 | OMIM | 1 | | 1658 | 2214 | 120120 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | COL7A1 CL E G H | 1294 | 226600 | Recessive dystrophic epidermolysis bullosa | 226600 | C0079474 | OMIM | 1 | | 2028 | 2214 | 120120 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | COLEC10 CL E G H | 10584 | 248340 | Malpuech facial clefting syndrome | 248340 | C0796032 | OMIM | 1 | | 54 | 2220 | 607620 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | COLEC10 CL E G H | 10584 | 248340 | Malpuech facial clefting syndrome | 248340 | C0796032 | OMIM | 1 | | 55 | 2220 | 607620 |
HP:0001510 | HP:0004322 | Short stature | 1 | COLEC10 CL E G H | 10584 | 248340 | Malpuech facial clefting syndrome | 248340 | C0796032 | OMIM | 1 | | 54 | 2220 | 607620 |
HP:0001510 | HP:0004322 | Short stature | 1 | COLEC10 CL E G H | 10584 | 248340 | Malpuech facial clefting syndrome | 248340 | C0796032 | OMIM | 1 | | 55 | 2220 | 607620 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | COLEC10 CL E G H | 10584 | 248340 | Malpuech facial clefting syndrome | 248340 | C0796032 | OMIM | 1 | | 54 | 2220 | 607620 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | COLEC10 CL E G H | 10584 | 248340 | Malpuech facial clefting syndrome | 248340 | C0796032 | OMIM | 1 | | 55 | 2220 | 607620 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | COLEC10 CL E G H | 10584 | 248340 | Malpuech facial clefting syndrome | 248340 | C0796032 | OMIM | 1 | | 54 | 2220 | 607620 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | COLEC10 CL E G H | 10584 | 248340 | Malpuech facial clefting syndrome | 248340 | C0796032 | OMIM | 1 | | 55 | 2220 | 607620 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | COLEC10 CL E G H | 10584 | 248340 | Malpuech facial clefting syndrome | 248340 | C0796032 | OMIM | 1 | | 54 | 2220 | 607620 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | COLEC10 CL E G H | 10584 | 248340 | Malpuech facial clefting syndrome | 248340 | C0796032 | OMIM | 1 | | 55 | 2220 | 607620 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CTNS CL E G H | 1497 | 411629 | | | | ORPHA | 1 | | 550 | 2518 | 606272 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CTNS CL E G H | 1497 | 411629 | | | | ORPHA | 1 | | 591 | 2518 | 606272 |
HP:0001510 | HP:0004322 | Short stature | 1 | CTNS CL E G H | 1497 | 411629 | | | | ORPHA | 1 | | 550 | 2518 | 606272 |
HP:0001510 | HP:0004322 | Short stature | 1 | CTNS CL E G H | 1497 | 411629 | | | | ORPHA | 1 | | 591 | 2518 | 606272 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CTNS CL E G H | 1497 | 411629 | | | | ORPHA | 1 | | 550 | 2518 | 606272 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CTNS CL E G H | 1497 | 411629 | | | | ORPHA | 1 | | 591 | 2518 | 606272 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CTNS CL E G H | 1497 | 411629 | | | | ORPHA | 1 | | 550 | 2518 | 606272 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CTNS CL E G H | 1497 | 411629 | | | | ORPHA | 1 | | 591 | 2518 | 606272 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CTNS CL E G H | 1497 | 411629 | | | | ORPHA | 1 | | 550 | 2518 | 606272 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CTNS CL E G H | 1497 | 411629 | | | | ORPHA | 1 | | 591 | 2518 | 606272 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 134 | 2873 | 613213 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 144 | 2873 | 613213 |
HP:0001510 | HP:0004322 | Short stature | 1 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 134 | 2873 | 613213 |
HP:0001510 | HP:0004322 | Short stature | 1 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 144 | 2873 | 613213 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 134 | 2873 | 613213 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 144 | 2873 | 613213 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 134 | 2873 | 613213 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 144 | 2873 | 613213 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 134 | 2873 | 613213 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 144 | 2873 | 613213 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CYP11B2 CL E G H | 1585 | 203400 | Corticosterone methyloxidase type 1 deficiency | 203400 | CN074214 | OMIM | 1 | | 355 | 2592 | 124080 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CYP11B2 CL E G H | 1585 | 203400 | Corticosterone methyloxidase type 1 deficiency | 203400 | CN074214 | OMIM | 1 | | 374 | 2592 | 124080 |
HP:0001510 | HP:0004322 | Short stature | 1 | CYP11B2 CL E G H | 1585 | 203400 | Corticosterone methyloxidase type 1 deficiency | 203400 | CN074214 | OMIM | 1 | | 355 | 2592 | 124080 |
HP:0001510 | HP:0004322 | Short stature | 1 | CYP11B2 CL E G H | 1585 | 203400 | Corticosterone methyloxidase type 1 deficiency | 203400 | CN074214 | OMIM | 1 | | 374 | 2592 | 124080 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CYP11B2 CL E G H | 1585 | 203400 | Corticosterone methyloxidase type 1 deficiency | 203400 | CN074214 | OMIM | 1 | | 355 | 2592 | 124080 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CYP11B2 CL E G H | 1585 | 203400 | Corticosterone methyloxidase type 1 deficiency | 203400 | CN074214 | OMIM | 1 | | 374 | 2592 | 124080 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CYP11B2 CL E G H | 1585 | 203400 | Corticosterone methyloxidase type 1 deficiency | 203400 | CN074214 | OMIM | 1 | | 355 | 2592 | 124080 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CYP11B2 CL E G H | 1585 | 203400 | Corticosterone methyloxidase type 1 deficiency | 203400 | CN074214 | OMIM | 1 | | 374 | 2592 | 124080 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CYP11B2 CL E G H | 1585 | 203400 | Corticosterone methyloxidase type 1 deficiency | 203400 | CN074214 | OMIM | 1 | | 355 | 2592 | 124080 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CYP11B2 CL E G H | 1585 | 203400 | Corticosterone methyloxidase type 1 deficiency | 203400 | CN074214 | OMIM | 1 | | 374 | 2592 | 124080 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CYP11B2 CL E G H | 1585 | 610600 | Corticosterone methyloxidase type 2 deficiency | 610600 | C3463917 | OMIM | 1 | | 355 | 2592 | 124080 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CYP11B2 CL E G H | 1585 | 610600 | Corticosterone methyloxidase type 2 deficiency | 610600 | C3463917 | OMIM | 1 | | 374 | 2592 | 124080 |
HP:0001510 | HP:0004322 | Short stature | 1 | CYP11B2 CL E G H | 1585 | 610600 | Corticosterone methyloxidase type 2 deficiency | 610600 | C3463917 | OMIM | 1 | | 355 | 2592 | 124080 |
HP:0001510 | HP:0004322 | Short stature | 1 | CYP11B2 CL E G H | 1585 | 610600 | Corticosterone methyloxidase type 2 deficiency | 610600 | C3463917 | OMIM | 1 | | 374 | 2592 | 124080 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CYP11B2 CL E G H | 1585 | 610600 | Corticosterone methyloxidase type 2 deficiency | 610600 | C3463917 | OMIM | 1 | | 355 | 2592 | 124080 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CYP11B2 CL E G H | 1585 | 610600 | Corticosterone methyloxidase type 2 deficiency | 610600 | C3463917 | OMIM | 1 | | 374 | 2592 | 124080 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CYP11B2 CL E G H | 1585 | 610600 | Corticosterone methyloxidase type 2 deficiency | 610600 | C3463917 | OMIM | 1 | | 355 | 2592 | 124080 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CYP11B2 CL E G H | 1585 | 610600 | Corticosterone methyloxidase type 2 deficiency | 610600 | C3463917 | OMIM | 1 | | 374 | 2592 | 124080 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CYP11B2 CL E G H | 1585 | 610600 | Corticosterone methyloxidase type 2 deficiency | 610600 | C3463917 | OMIM | 1 | | 355 | 2592 | 124080 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CYP11B2 CL E G H | 1585 | 610600 | Corticosterone methyloxidase type 2 deficiency | 610600 | C3463917 | OMIM | 1 | | 374 | 2592 | 124080 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CYP19A1 CL E G H | 1588 | 91 | Malignant melanoma, childhood | | | ORPHA | 1 | | 272 | 2594 | 107910 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CYP19A1 CL E G H | 1588 | 91 | Malignant melanoma, childhood | | | ORPHA | 1 | | 288 | 2594 | 107910 |
HP:0001510 | HP:0004322 | Short stature | 1 | CYP19A1 CL E G H | 1588 | 91 | Malignant melanoma, childhood | | | ORPHA | 1 | | 272 | 2594 | 107910 |
HP:0001510 | HP:0004322 | Short stature | 1 | CYP19A1 CL E G H | 1588 | 91 | Malignant melanoma, childhood | | | ORPHA | 1 | | 288 | 2594 | 107910 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CYP19A1 CL E G H | 1588 | 91 | Malignant melanoma, childhood | | | ORPHA | 1 | | 272 | 2594 | 107910 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CYP19A1 CL E G H | 1588 | 91 | Malignant melanoma, childhood | | | ORPHA | 1 | | 288 | 2594 | 107910 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CYP19A1 CL E G H | 1588 | 91 | Malignant melanoma, childhood | | | ORPHA | 1 | | 272 | 2594 | 107910 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CYP19A1 CL E G H | 1588 | 91 | Malignant melanoma, childhood | | | ORPHA | 1 | | 288 | 2594 | 107910 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CYP19A1 CL E G H | 1588 | 91 | Malignant melanoma, childhood | | | ORPHA | 1 | | 272 | 2594 | 107910 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CYP19A1 CL E G H | 1588 | 91 | Malignant melanoma, childhood | | | ORPHA | 1 | | 288 | 2594 | 107910 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CYP27B1 CL E G H | 1594 | 264700 | Vitamin D-dependent rickets, type 1 | 264700 | C0268689 | OMIM | 1 | | 118 | 2606 | 609506 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CYP27B1 CL E G H | 1594 | 264700 | Vitamin D-dependent rickets, type 1 | 264700 | C0268689 | OMIM | 1 | | 136 | 2606 | 609506 |
HP:0001510 | HP:0004322 | Short stature | 1 | CYP27B1 CL E G H | 1594 | 264700 | Vitamin D-dependent rickets, type 1 | 264700 | C0268689 | OMIM | 1 | | 118 | 2606 | 609506 |
HP:0001510 | HP:0004322 | Short stature | 1 | CYP27B1 CL E G H | 1594 | 264700 | Vitamin D-dependent rickets, type 1 | 264700 | C0268689 | OMIM | 1 | | 136 | 2606 | 609506 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CYP27B1 CL E G H | 1594 | 264700 | Vitamin D-dependent rickets, type 1 | 264700 | C0268689 | OMIM | 1 | | 118 | 2606 | 609506 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CYP27B1 CL E G H | 1594 | 264700 | Vitamin D-dependent rickets, type 1 | 264700 | C0268689 | OMIM | 1 | | 136 | 2606 | 609506 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CYP27B1 CL E G H | 1594 | 264700 | Vitamin D-dependent rickets, type 1 | 264700 | C0268689 | OMIM | 1 | | 118 | 2606 | 609506 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CYP27B1 CL E G H | 1594 | 264700 | Vitamin D-dependent rickets, type 1 | 264700 | C0268689 | OMIM | 1 | | 136 | 2606 | 609506 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CYP27B1 CL E G H | 1594 | 264700 | Vitamin D-dependent rickets, type 1 | 264700 | C0268689 | OMIM | 1 | | 118 | 2606 | 609506 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CYP27B1 CL E G H | 1594 | 264700 | Vitamin D-dependent rickets, type 1 | 264700 | C0268689 | OMIM | 1 | | 136 | 2606 | 609506 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CYP2R1 CL E G H | 120227 | 600081 | Vitamin d hydroxylation-deficient rickets, type 1b | 600081 | C1838657 | OMIM | 1 | | 63 | 20580 | 608713 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | CYP2R1 CL E G H | 120227 | 600081 | Vitamin d hydroxylation-deficient rickets, type 1b | 600081 | C1838657 | OMIM | 1 | | 74 | 20580 | 608713 |
HP:0001510 | HP:0004322 | Short stature | 1 | CYP2R1 CL E G H | 120227 | 600081 | Vitamin d hydroxylation-deficient rickets, type 1b | 600081 | C1838657 | OMIM | 1 | | 63 | 20580 | 608713 |
HP:0001510 | HP:0004322 | Short stature | 1 | CYP2R1 CL E G H | 120227 | 600081 | Vitamin d hydroxylation-deficient rickets, type 1b | 600081 | C1838657 | OMIM | 1 | | 74 | 20580 | 608713 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CYP2R1 CL E G H | 120227 | 600081 | Vitamin d hydroxylation-deficient rickets, type 1b | 600081 | C1838657 | OMIM | 1 | | 63 | 20580 | 608713 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | CYP2R1 CL E G H | 120227 | 600081 | Vitamin d hydroxylation-deficient rickets, type 1b | 600081 | C1838657 | OMIM | 1 | | 74 | 20580 | 608713 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CYP2R1 CL E G H | 120227 | 600081 | Vitamin d hydroxylation-deficient rickets, type 1b | 600081 | C1838657 | OMIM | 1 | | 63 | 20580 | 608713 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | CYP2R1 CL E G H | 120227 | 600081 | Vitamin d hydroxylation-deficient rickets, type 1b | 600081 | C1838657 | OMIM | 1 | | 74 | 20580 | 608713 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CYP2R1 CL E G H | 120227 | 600081 | Vitamin d hydroxylation-deficient rickets, type 1b | 600081 | C1838657 | OMIM | 1 | | 63 | 20580 | 608713 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | CYP2R1 CL E G H | 120227 | 600081 | Vitamin d hydroxylation-deficient rickets, type 1b | 600081 | C1838657 | OMIM | 1 | | 74 | 20580 | 608713 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | DCHS1 CL E G H | 8642 | 601390 | 601390 | 601390 | | OMIM | 1 | | 347 | 13681 | 603057 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | DCHS1 CL E G H | 8642 | 601390 | 601390 | 601390 | | OMIM | 1 | | 502 | 13681 | 603057 |
HP:0001510 | HP:0004322 | Short stature | 1 | DCHS1 CL E G H | 8642 | 601390 | 601390 | 601390 | | OMIM | 1 | | 347 | 13681 | 603057 |
HP:0001510 | HP:0004322 | Short stature | 1 | DCHS1 CL E G H | 8642 | 601390 | 601390 | 601390 | | OMIM | 1 | | 502 | 13681 | 603057 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | DCHS1 CL E G H | 8642 | 601390 | 601390 | 601390 | | OMIM | 1 | | 347 | 13681 | 603057 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | DCHS1 CL E G H | 8642 | 601390 | 601390 | 601390 | | OMIM | 1 | | 502 | 13681 | 603057 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | DCHS1 CL E G H | 8642 | 601390 | 601390 | 601390 | | OMIM | 1 | | 347 | 13681 | 603057 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | DCHS1 CL E G H | 8642 | 601390 | 601390 | 601390 | | OMIM | 1 | | 502 | 13681 | 603057 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | DCHS1 CL E G H | 8642 | 601390 | 601390 | 601390 | | OMIM | 1 | | 347 | 13681 | 603057 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | DCHS1 CL E G H | 8642 | 601390 | 601390 | 601390 | | OMIM | 1 | | 502 | 13681 | 603057 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 140 | 2858 | 601465 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 156 | 2858 | 601465 |
HP:0001510 | HP:0004322 | Short stature | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 140 | 2858 | 601465 |
HP:0001510 | HP:0004322 | Short stature | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 156 | 2858 | 601465 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 140 | 2858 | 601465 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 156 | 2858 | 601465 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 140 | 2858 | 601465 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 156 | 2858 | 601465 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 140 | 2858 | 601465 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 156 | 2858 | 601465 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | DHODH CL E G H | 1723 | 263750 | Miller syndrome | 263750 | C0265257 | OMIM | 1 | | 146 | 2867 | 126064 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | DHODH CL E G H | 1723 | 263750 | Miller syndrome | 263750 | C0265257 | OMIM | 1 | | 151 | 2867 | 126064 |
HP:0001510 | HP:0004322 | Short stature | 1 | DHODH CL E G H | 1723 | 263750 | Miller syndrome | 263750 | C0265257 | OMIM | 1 | | 146 | 2867 | 126064 |
HP:0001510 | HP:0004322 | Short stature | 1 | DHODH CL E G H | 1723 | 263750 | Miller syndrome | 263750 | C0265257 | OMIM | 1 | | 151 | 2867 | 126064 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | DHODH CL E G H | 1723 | 263750 | Miller syndrome | 263750 | C0265257 | OMIM | 1 | | 146 | 2867 | 126064 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | DHODH CL E G H | 1723 | 263750 | Miller syndrome | 263750 | C0265257 | OMIM | 1 | | 151 | 2867 | 126064 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | DHODH CL E G H | 1723 | 263750 | Miller syndrome | 263750 | C0265257 | OMIM | 1 | | 146 | 2867 | 126064 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | DHODH CL E G H | 1723 | 263750 | Miller syndrome | 263750 | C0265257 | OMIM | 1 | | 151 | 2867 | 126064 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | DHODH CL E G H | 1723 | 263750 | Miller syndrome | 263750 | C0265257 | OMIM | 1 | | 146 | 2867 | 126064 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | DHODH CL E G H | 1723 | 263750 | Miller syndrome | 263750 | C0265257 | OMIM | 1 | | 151 | 2867 | 126064 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | DPYD CL E G H | 1806 | 274270 | Dihydropyrimidine dehydrogenase deficiency | 274270 | C2720286 | OMIM | 1 | | 338 | 3012 | 612779 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | DPYD CL E G H | 1806 | 274270 | Dihydropyrimidine dehydrogenase deficiency | 274270 | C2720286 | OMIM | 1 | | 340 | 3012 | 612779 |
HP:0001510 | HP:0004322 | Short stature | 1 | DPYD CL E G H | 1806 | 274270 | Dihydropyrimidine dehydrogenase deficiency | 274270 | C2720286 | OMIM | 1 | | 338 | 3012 | 612779 |
HP:0001510 | HP:0004322 | Short stature | 1 | DPYD CL E G H | 1806 | 274270 | Dihydropyrimidine dehydrogenase deficiency | 274270 | C2720286 | OMIM | 1 | | 340 | 3012 | 612779 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | DPYD CL E G H | 1806 | 274270 | Dihydropyrimidine dehydrogenase deficiency | 274270 | C2720286 | OMIM | 1 | | 338 | 3012 | 612779 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | DPYD CL E G H | 1806 | 274270 | Dihydropyrimidine dehydrogenase deficiency | 274270 | C2720286 | OMIM | 1 | | 340 | 3012 | 612779 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | DPYD CL E G H | 1806 | 274270 | Dihydropyrimidine dehydrogenase deficiency | 274270 | C2720286 | OMIM | 1 | | 338 | 3012 | 612779 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | DPYD CL E G H | 1806 | 274270 | Dihydropyrimidine dehydrogenase deficiency | 274270 | C2720286 | OMIM | 1 | | 340 | 3012 | 612779 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | DPYD CL E G H | 1806 | 274270 | Dihydropyrimidine dehydrogenase deficiency | 274270 | C2720286 | OMIM | 1 | | 338 | 3012 | 612779 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | DPYD CL E G H | 1806 | 274270 | Dihydropyrimidine dehydrogenase deficiency | 274270 | C2720286 | OMIM | 1 | | 340 | 3012 | 612779 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | DPYS CL E G H | 1807 | 222748 | Dihydropyrimidinase deficiency | 222748 | C0342803 | OMIM | 1 | | 115 | 3013 | 613326 |
HP:0001510 | HP:0000823 | Delayed puberty | 1 | DPYS CL E G H | 1807 | 222748 | Dihydropyrimidinase deficiency | 222748 | C0342803 | OMIM | 1 | | 141 | 3013 | 613326 |
HP:0001510 | HP:0004322 | Short stature | 1 | DPYS CL E G H | 1807 | 222748 | Dihydropyrimidinase deficiency | 222748 | C0342803 | OMIM | 1 | | 115 | 3013 | 613326 |
HP:0001510 | HP:0004322 | Short stature | 1 | DPYS CL E G H | 1807 | 222748 | Dihydropyrimidinase deficiency | 222748 | C0342803 | OMIM | 1 | | 141 | 3013 | 613326 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | DPYS CL E G H | 1807 | 222748 | Dihydropyrimidinase deficiency | 222748 | C0342803 | OMIM | 1 | | 115 | 3013 | 613326 |
HP:0001510 | HP:0031087 | Absent pubertal growth spurt | 1 | DPYS CL E G H | 1807 | 222748 | Dihydropyrimidinase deficiency | 222748 | C0342803 | OMIM | 1 | | 141 | 3013 | 613326 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | DPYS CL E G H | 1807 | 222748 | Dihydropyrimidinase deficiency | 222748 | C0342803 | OMIM | 1 | | 115 | 3013 | 613326 |
HP:0001510 | HP:0001511 | Intrauterine growth retardation | 1 | DPYS CL E G H | 1807 | 222748 | Dihydropyrimidinase deficiency | 222748 | C0342803 | OMIM | 1 | | 141 | 3013 | 613326 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | DPYS CL E G H | 1807 | 222748 | Dihydropyrimidinase deficiency | 222748 | C0342803 | OMIM | 1 | | 115 | 3013 | 613326 |
HP:0001510 | HP:0008897 | Postnatal growth retardation | 1 | DPYS CL E G H | 1807 | 222748 | Dihydropyrimidinase deficiency | 222748 | C0342803 | OMIM | 1 | | 141 | 3013 | 613326 |
HP:0001510 | HP:0000 |