Failure to thrive
Symptom Information:
Symptom ID: | HPO:0001508 | ||||||||||||||||||||||||||||||
Synonyms: |
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Quality: | |||||||||||||||||||||||||||||||
Cross references: |
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Is a (Direct Parents): | |||||||||||||||||||||||||||||||
Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Growth abnormality(HPO:0001507) Abnormality of body weight(HPO:0004323) Decreased body weight(HPO:0004325) Failure to thrive(HPO:0001508) MedDRA: Metabolism and nutrition disorders(MedDRA:10027433) Appetite and general nutritional disorders(MedDRA:10003018) General nutritional disorders NEC(MedDRA:10018067) Failure to thrive(HPO:0001508) |
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Database Frequency: | 454 / 7739 | ||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
14q11.2 microdeletion syndrome | (Orphanet:261120) |
17p11.2 microduplication syndrome | (Orphanet:1713) |
19q13.11 microdeletion syndrome | (Orphanet:217346) |
2,4-@DIENOYL-CoA REDUCTASE DEFICIENCY | (OMIM:616034) |
2p21 microdeletion syndrome | (Orphanet:163693) |
3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY | (OMIM:210200) |
3-hydroxyisobutyric aciduria | (Orphanet:939) |
3-methylglutaconic aciduria type 1 | (Orphanet:67046) |
3C syndrome | (Orphanet:7) |
3q29 microdeletion syndrome | (Orphanet:65286) |
AARSKOG-SCOTT SYNDROME | (OMIM:305400) |
ADRENAL HYPOPLASIA, CONGENITAL | (OMIM:300200) |
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE | (OMIM:601495) |
AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE | (OMIM:613501) |
ALDH18A1-related De Barsy syndrome | (Orphanet:35664) |
ALG3-CDG | (Orphanet:79321) |
ARTHROGRYPOSIS, DISTAL, TYPE 2A | (OMIM:193700) |
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 | (OMIM:613404) |
ASPARAGINE SYNTHETASE DEFICIENCY | (OMIM:615574) |
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 | (OMIM:170995) |
AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS | (OMIM:616050) |
Acro-oto-ocular syndrome | (Orphanet:2980) |
Acrocallosal syndrome | (Orphanet:36) |
Acrodermatitis enteropathica, zinc deficiency type | (Orphanet:37) |
Acute infantile liver failure-multisystemic involvement syndrome | (Orphanet:370088) |
Alagille syndrome due to 20p12 microdeletion | (Orphanet:261600) |
Alagille syndrome due to a JAG1 point mutation | (Orphanet:261619) |
Alpers syndrome | (Orphanet:726) |
Alström syndrome | (Orphanet:64) |
Amish infantile epilepsy syndrome | (Orphanet:171714) |
Apparent mineralocorticoid excess | (Orphanet:320) |
Arginine:glycine amidinotransferase deficiency | (Orphanet:35704) |
Argininosuccinic aciduria | (Orphanet:23) |
Arthrogryposis - renal dysfunction - cholestasis | (Orphanet:2697) |
Atypical hypotonia - cystinuria syndrome | (Orphanet:238523) |
Autoimmune lymphoproliferative syndrome with recurrent infections | (Orphanet:275517) |
Autosomal agammaglobulinemia | (Orphanet:33110) |
Autosomal recessive cutis laxa type 2, classic type | (Orphanet:357074) |
Autosomal recessive cutis laxa type 2A | (Orphanet:357058) |
Autosomal recessive cutis laxa type 2B | (Orphanet:357064) |
Autosomal recessive distal renal tubular acidosis without deafness | (Orphanet:93609) |
Autosomal recessive infantile hypercalcemia | (Orphanet:300547) |
Autosomal recessive malignant osteopetrosis | (Orphanet:667) |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | (Orphanet:331176) |
BARTTER SYNDROME, ANTENATAL, TYPE 1 | (OMIM:601678) |
BARTTER SYNDROME, ANTENATAL, TYPE 2 | (OMIM:241200) |
BARTTER SYNDROME, TYPE 4A | (OMIM:602522) |
BARTTER SYNDROME, TYPE 4B | (OMIM:613090) |
BILE ACID MALABSORPTION, PRIMARY | (OMIM:613291) |
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 | (OMIM:214950) |
BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY | (OMIM:210550) |
BOWEN SYNDROME OF MULTIPLE MALFORMATIONS | (OMIM:211200) |
Barth syndrome | (Orphanet:111) |
Bartter syndrome | (Orphanet:112) |
Bifunctional enzyme deficiency | (Orphanet:300) |
Blackfan-Diamond anemia | (Orphanet:124) |
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency | (Orphanet:329255) |
Bloom syndrome | (Orphanet:125) |
Bohring-Opitz syndrome | (Orphanet:97297) |
C syndrome | (Orphanet:1308) |
CADDS | (Orphanet:369942) |
CANDLE syndrome | (Orphanet:325004) |
CARDIOFACIOCUTANEOUS SYNDROME 1 | (OMIM:115150) |
CARDIOFACIOCUTANEOUS SYNDROME 3 | (OMIM:615279) |
CATARACT, MICROCEPHALY, FAILURE TO THRIVE, KYPHOSCOLIOSIS SYNDROME | (OMIM:212540) |
CEDNIK syndrome | (Orphanet:66631) |
CELIAC DISEASE, SUSCEPTIBILITY TO, 1 | (OMIM:212750) |
CEREBROOCULOFACIOSKELETAL SYNDROME 1 | (OMIM:214150) |
CHROMOSOME 16q22 DELETION SYNDROME | (OMIM:614541) |
COFS syndrome | (Orphanet:1466) |
COG4-CDG | (Orphanet:263501) |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 | (OMIM:615595) |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 | (OMIM:616045) |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl | (OMIM:614576) |
CONGENITAL SHORT BOWEL SYNDROME | (OMIM:615237) |
CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY | (OMIM:203400) |
CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY | (OMIM:610600) |
Campomelic dysplasia | (Orphanet:140) |
Carbamoylphosphate synthetase deficiency | (Orphanet:147) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Carey-Fineman-Ziter syndrome | (Orphanet:1358) |
Carnitine uptake deficiency | (Orphanet:158) |
Cholestasis - pigmentary retinopathy - cleft palate | (Orphanet:1415) |
Cholesteryl ester storage disease | (Orphanet:75234) |
Chronic respiratory distress with surfactant metabolism deficiency | (Orphanet:217566) |
Chylomicron retention disease | (Orphanet:71) |
Citrullinemia type I | (Orphanet:247525) |
Classic galactosemia | (Orphanet:79239) |
Classic multiminicore myopathy | (Orphanet:324604) |
Classical homocystinuria | (Orphanet:394) |
Combined immunodeficiency due to CRAC channel dysfunction | (Orphanet:169090) |
Combined immunodeficiency due to ORAI1 deficiency | (Orphanet:317428) |
Combined immunodeficiency due to ZAP70 deficiency | (Orphanet:911) |
Combined malonic and methylmalonic acidemia | (Orphanet:289504) |
Combined oxidative phosphorylation defect type 17 | (Orphanet:369913) |
Combined oxidative phosphorylation defect type 7 | (Orphanet:254930) |
Combined oxidative phosphorylation defect type 8 | (Orphanet:319504) |
Combined oxidative phosphorylation defect type 9 | (Orphanet:319509) |
Congenital bile acid synthesis defect type 1 | (Orphanet:79301) |
Congenital bile acid synthesis defect type 2 | (Orphanet:79303) |
Congenital bile acid synthesis defect type 3 | (Orphanet:79302) |
Congenital bile acid synthesis defect type 4 | (Orphanet:79095) |
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | (Orphanet:1369) |
Congenital chloride diarrhea | (Orphanet:53689) |
Congenital enteropathy due to enteropeptidase deficiency | (Orphanet:168601) |
Congenital fiber-type disproportion myopathy | (Orphanet:2020) |
Congenital heart block | (Orphanet:60041) |
Congenital intrauterine infection-like syndrome | (Orphanet:1229) |
Congenital lactic acidosis, Saguenay-Lac-St. Jean type | (Orphanet:70472) |
Congenital lethal erythroderma | (Orphanet:1954) |
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells | (Orphanet:83620) |
Congenital muscular dystrophy due to LMNA mutation | (Orphanet:157973) |
Congenital muscular dystrophy, Ullrich type | (Orphanet:75840) |
Congenital sucrase-isomaltase deficiency | (Orphanet:35122) |
Corneal anesthesia - deafness - intellectual deficit | (Orphanet:1051) |
Costello syndrome | (Orphanet:3071) |
Cryptosporidiosis - chronic cholangitis - liver disease | (Orphanet:357329) |
Cushing disease | (Orphanet:96253) |
Cushing syndrome | (Orphanet:553) |
Cystic fibrosis | (Orphanet:586) |
Cystinosis | (Orphanet:213) |
D-glyceric aciduria | (Orphanet:941) |
DDOST-CDG | (Orphanet:300536) |
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL | (OMIM:125800) |
DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED | (OMIM:304800) |
DIAMOND-BLACKFAN ANEMIA 1 | (OMIM:105650) |
DK1-CDG | (Orphanet:91131) |
DPM1-CDG | (Orphanet:79322) |
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2 | (OMIM:613989) |
De Barsy syndrome | (Orphanet:2962) |
Dent disease type 1 | (Orphanet:93622) |
Desmin-related myopathy with Mallory body-like inclusions | (Orphanet:84132) |
Desmosterolosis | (Orphanet:35107) |
Desquamative interstitial pneumonia | (Orphanet:98852) |
Dihydropyrimidine dehydrogenase deficiency | (Orphanet:1675) |
Distal monosomy 15q | (Orphanet:1596) |
Distal renal tubular acidosis with anemia | (Orphanet:93610) |
Dopa-responsive dystonia due to sepiapterin reductase deficiency | (Orphanet:70594) |
EDINBURGH MALFORMATION SYNDROME | (OMIM:129850) |
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1 | (OMIM:130070) |
ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNELDEFICIENCY | (OMIM:614520) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 | (OMIM:616339) |
ESOPHAGITIS, EOSINOPHILIC, 1 | (OMIM:610247) |
ESOPHAGITIS, EOSINOPHILIC, 2 | (OMIM:613412) |
Ear-patella-short stature syndrome | (Orphanet:2554) |
Ehlers-Danlos syndrome, progeroid type | (Orphanet:75496) |
Eosinophilic esophagitis | (Orphanet:73247) |
Ethylmalonic encephalopathy | (Orphanet:51188) |
Fallot complex - intellectual deficit - growth delay | (Orphanet:3304) |
Familial benign copper deficiency | (Orphanet:1551) |
Familial glucocorticoid deficiency | (Orphanet:361) |
Familial hemophagocytic lymphohistiocytosis | (Orphanet:540) |
Familial hypercholanemia | (Orphanet:238475) |
Familial hypoaldosteronism | (Orphanet:427) |
Familial hypomagnesemia - hypercalciuria - nephrocalcinosis | (Orphanet:31043) |
Familial isolated restrictive cardiomyopathy | (Orphanet:75249) |
Farber lipogranulomatosis | (Orphanet:333) |
Fatal infantile lactic acidosis with methylmalonic aciduria | (Orphanet:17) |
Fatal multiple mitochondrial dysfunction syndrome | (Orphanet:289573) |
Free sialic acid storage disease, infantile form | (Orphanet:309324) |
Freeman-Sheldon syndrome | (Orphanet:2053) |
Fucosidosis | (Orphanet:349) |
Fumaric aciduria | (Orphanet:24) |
GLUCOCORTICOID DEFICIENCY 1 | (OMIM:202200) |
GLUCOCORTICOID DEFICIENCY 4 | (OMIM:614736) |
GOLGI REASSEMBLY STACKING PROTEIN 1 | (OMIM:606867) |
Galactose epimerase deficiency | (Orphanet:79238) |
Gaucher disease type 1 | (Orphanet:77259) |
Gaucher disease type 2 | (Orphanet:77260) |
Gaucher disease type 3 | (Orphanet:77261) |
Generalized juvenile polyposis/juvenile polyposis coli | (Orphanet:329971) |
Generalized pseudohypoaldosteronism type 1 | (Orphanet:171876) |
Glucose-galactose malabsorption | (Orphanet:35710) |
Glutaric acidemia type 3 | (Orphanet:35706) |
Glutaryl-CoA dehydrogenase deficiency | (Orphanet:25) |
Glycogen storage disease due to GLUT2 deficiency | (Orphanet:2088) |
Glycogen storage disease due to acid maltase deficiency, infantile onset | (Orphanet:308552) |
Glycogen storage disease due to glucose-6-phosphatase deficiency type a | (Orphanet:79258) |
Glycogen storage disease due to glucose-6-phosphatase deficiency type b | (Orphanet:79259) |
Glycogen storage disease due to glycogen branching enzyme deficiency | (Orphanet:367) |
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form | (Orphanet:308712) |
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form | (Orphanet:308684) |
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form | (Orphanet:308698) |
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form | (Orphanet:308670) |
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form | (Orphanet:308655) |
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form | (Orphanet:308638) |
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form | (Orphanet:308621) |
Glycogen storage disease due to hepatic glycogen synthase deficiency | (Orphanet:2089) |
HAJDU-CHENEY SYNDROME | (OMIM:102500) |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1 | (OMIM:267700) |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 | (OMIM:603553) |
HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS | (OMIM:610680) |
HOMOZYGOUS 11p15-p14 DELETION SYNDROME | (OMIM:606528) |
HYPERCHLORHIDROSIS, ISOLATED | (OMIM:143860) |
HYPERLIPOPROTEINEMIA, TYPE ID | (OMIM:615947) |
HYPERPARATHYROIDISM, NEONATAL SELF-LIMITED PRIMARY, WITH HYPERCALCIURIA | (OMIM:239199) |
Hall-Riggs syndrome | (Orphanet:2107) |
Harrod syndrome | (Orphanet:2115) |
Hawkinsinuria | (Orphanet:2118) |
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 | (Orphanet:137681) |
Hereditary folate malabsorption | (Orphanet:90045) |
Hereditary fructose intolerance | (Orphanet:469) |
Hereditary hypophosphatemic rickets with hypercalciuria | (Orphanet:157215) |
Hereditary orotic aciduria | (Orphanet:30) |
Hyper-beta-alaninemia | (Orphanet:309147) |
Hyperammonemia due to N-acetylglutamate synthetase deficiency | (Orphanet:927) |
Hyperleucine-isoleucinemia | (OMIM:238340) |
Hyperlysinemia, type I | (OMIM:238700) |
Hypermethioninemia encephalopathy due to adenosine kinase deficiency | (Orphanet:289290) |
Hyperornithinemia-hyperammonemia-homocitrullinuria | (Orphanet:415) |
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome | (Orphanet:363694) |
Hypocalcemic vitamin D-dependent rickets | (Orphanet:289157) |
Hypocalcemic vitamin D-resistant rickets | (Orphanet:93160) |
Hypotonia - cystinuria syndrome | (Orphanet:163690) |
Hypotonia with lactic acidemia and hyperammonemia | (Orphanet:137908) |
ICF syndrome | (Orphanet:2268) |
ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS | (OMIM:242150) |
IMMUNODEFICIENCY 15 | (OMIM:615592) |
IMMUNODEFICIENCY 17 | (OMIM:615607) |
IMMUNODEFICIENCY 19 | (OMIM:615617) |
IMMUNODEFICIENCY 22 | (OMIM:615758) |
IMMUNODEFICIENCY, COMMON VARIABLE, 11 | (OMIM:615767) |
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY | (OMIM:614700) |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME1 | (OMIM:242860) |
INFANTILE LIVER FAILURE SYNDROME 2 | (OMIM:615486) |
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 | (OMIM:616069) |
Immunodeficiency by defective expression of HLA class 2 | (Orphanet:572) |
Infantile Bartter syndrome with deafness | (Orphanet:89938) |
Infantile cerebellar-retinal degeneration | (Orphanet:313850) |
Infantile hypophosphatasia | (Orphanet:247651) |
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations | (Orphanet:319462) |
Intellectual deficit - sparse hair - brachydactyly | (Orphanet:3051) |
Intellectual deficit, Buenos-Aires type | (Orphanet:3079) |
Intellectual deficit, X-linked, Cantagrel type | (Orphanet:85277) |
Intellectual disability-strabismus syndrome | (Orphanet:363528) |
Intestinal epithelial dysplasia | (Orphanet:92050) |
Isolated 3-methylcrotonyl-CoA carboxylase deficiency | (Orphanet:6) |
Isolated ATP synthase deficiency | (Orphanet:254913) |
Isolated CoQ-cytochrome C reductase deficiency | (Orphanet:1460) |
Isolated NADH-CoQ reductase deficiency | (Orphanet:2609) |
Isolated cytochrome C oxidase deficiency | (Orphanet:254905) |
JMP syndrome | (Orphanet:324999) |
Jacobsen syndrome | (Orphanet:2308) |
Johanson-Blizzard syndrome | (Orphanet:2315) |
Joubert syndrome 2 | (OMIM:608091) |
Joubert syndrome with orofaciodigital defect | (Orphanet:2754) |
Junctional epidermolysis bullosa, Herlitz type | (Orphanet:79404) |
Juvenile polyposis syndrome | (Orphanet:2929) |
KEPPEN-LUBINSKY SYNDROME | (OMIM:614098) |
KRABBE DISEASE | (OMIM:245200) |
Koolen-De Vries syndrome | (Orphanet:96169) |
Krabbe disease | (Orphanet:487) |
LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME | (OMIM:308940) |
LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA | (OMIM:608809) |
Leigh syndrome | (Orphanet:506) |
Lenz-Majewski hyperostotic dwarfism | (Orphanet:2658) |
Leprechaunism | (Orphanet:508) |
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect | (Orphanet:330050) |
Lethal polymalformative syndrome, Boissel type | (Orphanet:210144) |
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate | (Orphanet:314051) |
Lipodystrophy - intellectual deficit - deafness | (Orphanet:50811) |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | (Orphanet:5) |
Lymphoid interstitial pneumonia | (Orphanet:79128) |
Lysinuric protein intolerance | (Orphanet:470) |
Lysosomal acid lipase deficiency | (Orphanet:275761) |
MEGDEL syndrome | (Orphanet:352328) |
MEIER-GORLIN SYNDROME 1 | (OMIM:224690) |
MEIER-GORLIN SYNDROME 2 | (OMIM:613800) |
MEIER-GORLIN SYNDROME 3 | (OMIM:613803) |
MEIER-GORLIN SYNDROME 4 | (OMIM:613804) |
MEIER-GORLIN SYNDROME 5 | (OMIM:613805) |
MELAS | (Orphanet:550) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 | (OMIM:616281) |
MGAT2-CDG | (Orphanet:79329) |
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I | (OMIM:210710) |
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY | (OMIM:613668) |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 | (OMIM:604273) |
MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE | (OMIM:614894) |
MPDU1-CDG | (Orphanet:79323) |
MPI-CDG | (Orphanet:79319) |
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 | (OMIM:605711) |
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET | (OMIM:614399) |
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION | (OMIM:255310) |
Marden-Walker syndrome | (Orphanet:2461) |
Marinesco-Sjögren syndrome | (Orphanet:559) |
Marshall-Smith syndrome | (Orphanet:561) |
Maternally-inherited Leigh syndrome | (Orphanet:255210) |
Methylcobalamin deficiency type cblE | (Orphanet:2169) |
Methylcobalamin deficiency type cblG | (Orphanet:2170) |
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | (Orphanet:308425) |
Methylmalonic acidemia with homocystinuria | (Orphanet:26) |
Methylmalonic acidemia with homocystinuria, type cblC | (Orphanet:79282) |
Methylmalonic acidemia with homocystinuria, type cblF | (Orphanet:79284) |
Methylmalonic acidemia with homocystinuria, type cblX | (Orphanet:369962) |
Mevalonic aciduria | (Orphanet:29) |
Micro syndrome | (Orphanet:2510) |
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 | (Orphanet:2636) |
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type | (Orphanet:217026) |
Microcephaly-capillary malformation syndrome | (Orphanet:294016) |
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome | (Orphanet:329332) |
Microgastria - limb reduction defect | (Orphanet:2538) |
Microphthalmia with brain and digit anomalies | (Orphanet:139471) |
Miller-Dieker syndrome | (Orphanet:531) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | (Orphanet:1933) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy | (Orphanet:255235) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | (Orphanet:369897) |
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | (Orphanet:279934) |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | (Orphanet:1194) |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | (Orphanet:314637) |
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | (Orphanet:254864) |
Mitochondrial trifunctional protein deficiency | (Orphanet:746) |
Monosomy 18q | (Orphanet:1600) |
Mucolipidosis type 2 | (Orphanet:576) |
Mulibrey nanism | (Orphanet:2576) |
Multiple acyl-CoA dehydrogenase deficiency | (Orphanet:26791) |
Myopathy, lactic acidosis, and sideroblastic anemia 2; MLASA2 | (OMIM:613561) |
NEUROBLASTOMA, SUSCEPTIBILITY TONEUROBLASTOMA, SUSCEPTIBILITY TO, 1, INCLUDED | (OMIM:256700) |
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET | (OMIM:616263) |
NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE | (OMIM:616022) |
NOONAN SYNDROME 8 | (OMIM:615355) |
Nakajo-Nishimura syndrome | (Orphanet:2615) |
Navajo neurohepatopathy | (Orphanet:255229) |
Neonatal acute respiratory distress with surfactant metabolism deficiency | (Orphanet:217563) |
Neonatal intrahepatic cholestasis due to citrin deficiency | (Orphanet:247598) |
Neonatal severe primary hyperparathyroidism | (Orphanet:417) |
Nephrogenic diabetes insipidus | (Orphanet:223) |
Nephronophthisis 2 | (OMIM:602088) |
Nephronophthisis 3 | (OMIM:604387) |
Nestor-Guillermo progeria syndrome | (Orphanet:280576) |
Netherton syndrome | (Orphanet:634) |
Neuroblastoma | (Orphanet:635) |
Niemann-Pick disease type A | (Orphanet:77292) |
Noonan syndrome | (Orphanet:648) |
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE | (OMIM:257850) |
OROFACIODIGITAL SYNDROME VI | (OMIM:277170) |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 | (OMIM:259700) |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 | (OMIM:615085) |
Oculocerebrorenal syndrome | (Orphanet:534) |
Omenn syndrome | (Orphanet:39041) |
Ornithine transcarbamylase deficiency | (Orphanet:664) |
Osteocraniostenosis | (Orphanet:2763) |
Osteodysplasty, Melnick-Needles type | (Orphanet:2484) |
Osteoglophonic dwarfism | (Orphanet:2645) |
Osteopathia striata - cranial sclerosis | (Orphanet:2780) |
PELGER-HUET ANOMALY | (OMIM:169400) |
PELIZAEUS-MERZBACHER DISEASE | (OMIM:312080) |
PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE | (OMIM:608097) |
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) | (OMIM:614883) |
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | (OMIM:214100) |
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) | (OMIM:214110) |
PEROXISOME BIOGENESIS DISORDER 3B | (OMIM:266510) |
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) | (OMIM:614866) |
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY | (OMIM:602342) |
PMM2-CDG | (Orphanet:79318) |
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY | (OMIM:615895) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C | (OMIM:616081) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4 | (OMIM:610131) |
PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 1 | (OMIM:179010) |
Pancreatic agenesis, congenital | (OMIM:260370) |
Pancreatic hypoplasia - diabetes - congenital heart disease | (Orphanet:2255) |
Pancreatic insufficiency - anemia - hyperostosis | (Orphanet:199337) |
Pearson syndrome | (Orphanet:699) |
Pelizaeus-Merzbacher-like disease | (Orphanet:280270) |
Pelizaeus-Merzbacher-like due to AIMP1 mutation | (Orphanet:280293) |
Perinatal lethal hypophosphatasia | (Orphanet:247623) |
Polyarteritis nodosa, childhood-onset | (OMIM:615688) |
Polyglucosan body myopathy type 1 | (ORPHA:397937) |
Pontine tegmental cap dysplasia | (Orphanet:269229) |
Pontocerebellar hypoplasia type 6 | (Orphanet:166073) |
Porphyria due to ALA dehydratase deficiency | (Orphanet:100924) |
Primary Fanconi syndrome | (Orphanet:3337) |
Primary hyperoxaluria type 1 | (Orphanet:93598) |
Progressive familial intrahepatic cholestasis | (Orphanet:172) |
Progressive familial intrahepatic cholestasis type 1 | (Orphanet:79306) |
Progressive familial intrahepatic cholestasis type 2 | (Orphanet:79304) |
Propionic acidemia | (Orphanet:35) |
Proteasome disability syndrome | (Orphanet:324977) |
Proximal renal tubular acidosis | (Orphanet:47159) |
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia | (Orphanet:3390) |
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency | (Orphanet:88618) |
Purine nucleoside phosphorylase deficiency | (Orphanet:760) |
Pyridoxal phosphate-responsive seizures | (Orphanet:79096) |
Pyruvate dehydrogenase E3-binding protein deficiency | (Orphanet:255182) |
RFT1-CDG | (Orphanet:244310) |
Recurrent infections-myelofibrosis-nephromegaly syndrome | (Orphanet:369852) |
Renal pseudohypoaldosteronism type 1 | (Orphanet:171871) |
Renal tubulopathy - encephalopathy - liver failure | (Orphanet:254902) |
Respiratory bronchiolitis - interstitial lung disease | (Orphanet:79127) |
Rhizomelic chondrodysplasia punctata type 2 | (Orphanet:309796) |
Rhizomelic chondrodysplasia punctata type 3 | (Orphanet:309803) |
Rigid spine syndrome | (Orphanet:97244) |
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | (Orphanet:353281) |
Rubinstein-Taybi syndrome due to CREBBP mutations | (Orphanet:353277) |
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL | (OMIM:602613) |
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 | (OMIM:604320) |
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET | (OMIM:615934) |
STRIATONIGRAL DEGENERATION, INFANTILE | (OMIM:271930) |
STT3A-CDG | (Orphanet:370921) |
STT3B-CDG | (Orphanet:370924) |
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1 | (OMIM:265120) |
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 | (OMIM:610921) |
Schinzel-Giedion syndrome | (Orphanet:798) |
Severe combined immunodeficiency due to DCLRE1C deficiency | (Orphanet:275) |
Severe combined immunodeficiency due to adenosine deaminase deficiency | (Orphanet:277) |
Severe combined immunodeficiency due to complete RAG1/2 deficiency | (Orphanet:331206) |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | (Orphanet:369939) |
Severe neonatal-onset encephalopathy with microcephaly | (Orphanet:209370) |
Short chain acyl-CoA dehydrogenase deficiency | (Orphanet:26792) |
Short-rib thoracic dysplasia 8 with or without polydactyly | (OMIM:615503) |
Shwachman-Diamond syndrome | (Orphanet:811) |
Skin fragility-woolly hair-palmoplantar keratoderma syndrome | (Orphanet:293165) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Spinal muscular atrophy with respiratory distress | (Orphanet:98920) |
Sporadic Leigh syndrome | (Orphanet:255199) |
Syndromic diarrhea | (Orphanet:84064) |
T-B+ severe combined immunodeficiency due to JAK3 deficiency | (Orphanet:35078) |
T-B+ severe combined immunodeficiency due to gamma chain deficiency | (Orphanet:276) |
T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY | (OMIM:615387) |
TARP syndrome | (Orphanet:2886) |
TMEM165-CDG | (Orphanet:314667) |
TRICHOHEPATOENTERIC SYNDROME 1 | (OMIM:222470) |
TRICHOHEPATOENTERIC SYNDROME 2 | (OMIM:614602) |
TRYPSINOGEN DEFICIENCY | (OMIM:614044) |
Thymic aplasia | (Orphanet:83471) |
Transcobalamin deficiency | (Orphanet:859) |
Tyrosinemia type 1 | (Orphanet:882) |
Tyrosinemia type 2 | (Orphanet:28378) |
VACTERL/VATER association | (Orphanet:887) |
VALINEMIA | (OMIM:277100) |
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A | (OMIM:264700) |
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B | (OMIM:600081) |
VITAMIN D-DEPENDENT RICKETS, TYPE 2A | (OMIM:277440) |
Vici syndrome | (Orphanet:1493) |
Vitamin B12-responsive methylmalonic acidemia | (Orphanet:28) |
Vitamin B12-responsive methylmalonic acidemia type cblA | (Orphanet:79310) |
Vitamin B12-responsive methylmalonic acidemia type cblB | (Orphanet:79311) |
Vitamin B12-unresponsive methylmalonic acidemia | (Orphanet:27) |
Vitamin B12-unresponsive methylmalonic acidemia type mut- | (Orphanet:79312) |
Vitamin B12-unresponsive methylmalonic acidemia type mut0 | (Orphanet:289916) |
WARBURG MICRO SYNDROME 1 | (OMIM:600118) |
Wiedemann-Rautenstrauch syndrome | (Orphanet:3455) |
Wiedemann-Steiner syndrome | (Orphanet:319182) |
Wolf-Hirschhorn syndrome | (Orphanet:280) |
Wolfram syndrome 1 | (OMIM:222300) |
Wolman disease | (Orphanet:75233) |
Wrinkly skin syndrome | (Orphanet:2834) |
X-linked creatine transporter deficiency | (Orphanet:52503) |
X-linked dominant chondrodysplasia punctata | (Orphanet:35173) |
XIA-GIBBS SYNDROME | (OMIM:615829) |
Zellweger syndrome | (Orphanet:912) |
Zellweger-like syndrome without peroxisomal anomalies | (Orphanet:50812) |
[DEL] ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 | (OMIM:208085) |
[DEL] GLYCOGEN STORAGE DISEASE Ib | (OMIM:232220) |
[DEL] SENGERS SYNDROME | (OMIM:212350) |