Decreased body weight
Symptom Information:
Symptom ID: | HPO:0004325 | ||||||||||||||
Synonyms: |
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Quality: | |||||||||||||||
Cross references: |
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Is a (Direct Parents): |
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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) MedDRA: |
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Database Frequency: | 492 / 7739 | ||||||||||||||
Resource: |
All diseases associated with this symptom:
10q22.3q23.3 microdeletion syndrome | (Orphanet:276413) |
12q14 microdeletion syndrome | (Orphanet:94063) |
14q12 microdeletion syndrome | (Orphanet:261144) |
16p11.2p12.2 microdeletion syndrome | (Orphanet:261211) |
17p11.2 microduplication syndrome | (Orphanet:1713) |
17q12 microdeletion syndrome | (Orphanet:261265) |
17q21.31 microduplication syndrome | (Orphanet:217340) |
17q23.1q23.2 microdeletion syndrome | (Orphanet:261279) |
19q13.11 microdeletion syndrome | (Orphanet:217346) |
1p36 deletion syndrome | (Orphanet:1606) |
1q21.1 microdeletion syndrome | (Orphanet:250989) |
1q21.1 microduplication syndrome | (Orphanet:250994) |
1q44 microdeletion syndrome | (Orphanet:238769) |
22q11.2 deletion syndrome | (Orphanet:567) |
22q11.2 microduplication syndrome | (Orphanet:1727) |
2p15p16.1 microdeletion syndrome | (Orphanet:261349) |
2p21 microdeletion syndrome | (Orphanet:163693) |
2q23.1 microdeletion syndrome | (Orphanet:228402) |
2q32q33 microdeletion syndrome | (Orphanet:251019) |
3C syndrome | (Orphanet:7) |
3q29 microdeletion syndrome | (Orphanet:65286) |
4q21 microdeletion syndrome | (Orphanet:238750) |
5q14.3 microdeletion syndrome | (Orphanet:228384) |
6q25 microdeletion syndrome | (Orphanet:251056) |
8p11.2 deletion syndrome | (Orphanet:251066) |
8p23.1 microdeletion syndrome | (Orphanet:251071) |
ACTH-dependent Cushing syndrome | (Orphanet:99892) |
ACTH-independent Cushing syndrome | (Orphanet:99893) |
ACTH-independent macronodular adrenal hyperplasia | (Orphanet:189427) |
AREDYLD syndrome | (Orphanet:1133) |
Ablepharon macrostomia syndrome | (Orphanet:920) |
Achalasia - microcephaly | (Orphanet:929) |
Acquired central diabetes insipidus | (Orphanet:95626) |
Acquired hypertrichosis lanuginosa | (Orphanet:2221) |
Acro-cardio-facial syndrome | (Orphanet:2008) |
Acro-oto-ocular syndrome | (Orphanet:2980) |
Acro-renal-ocular syndrome | (Orphanet:959) |
Acrodermatitis enteropathica, zinc deficiency type | (Orphanet:37) |
Acrofacial dysostosis, Catania type | (Orphanet:1786) |
Acroosteolysis, dominant type | (Orphanet:955) |
Acute intermittent porphyria | (Orphanet:79276) |
Adams-Oliver syndrome | (Orphanet:974) |
Adrenomyodystrophy | (Orphanet:977) |
Aggressive systemic mastocytosis | (Orphanet:98850) |
Aicardi syndrome | (Orphanet:50) |
Aicardi-Goutières syndrome | (Orphanet:51) |
Alagille syndrome | (Orphanet:52) |
Alexander disease | (Orphanet:58) |
Allergic bronchopulmonary aspergillosis | (Orphanet:1164) |
Alopecia - contractures - dwarfism - intellectual deficit | (Orphanet:1005) |
Alopecia-intellectual deficit syndrome | (Orphanet:2850) |
Alpha heavy-chain disease | (Orphanet:100025) |
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 | (Orphanet:98791) |
Alport syndrome | (Orphanet:63) |
Alveolar echinococcosis | (Orphanet:284) |
Amish lethal microcephaly | (Orphanet:99742) |
Anisakiasis | (Orphanet:1070) |
Anophthalmia/microphthalmia - esophageal atresia | (Orphanet:77298) |
Apert syndrome | (Orphanet:87) |
Arachnodactyly - intellectual deficit - dysmorphism | (Orphanet:1130) |
Arthrogryposis - renal dysfunction - cholestasis | (Orphanet:2697) |
Ataxia-telangiectasia | (Orphanet:100) |
Atypical Rett syndrome | (Orphanet:3095) |
Autosomal agammaglobulinemia | (Orphanet:33110) |
Autosomal recessive cutis laxa type 2 | (Orphanet:90350) |
Autosomal recessive epidermolysis bullosa simplex | (Orphanet:89838) |
Autosomal recessive malignant osteopetrosis | (Orphanet:667) |
Autosomal recessive multiple pterygium syndrome | (Orphanet:2990) |
Autosomal recessive spastic paraplegia type 45 | (Orphanet:320396) |
Axenfeld-Rieger syndrome | (Orphanet:782) |
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET | (OMIM:114100) |
BRESEK syndrome | (Orphanet:85284) |
Babesiosis | (Orphanet:108) |
Baller-Gerold syndrome | (Orphanet:1225) |
Baraitser-Winter syndrome | (Orphanet:2995) |
Barber-Say syndrome | (Orphanet:1231) |
Beckwith-Wiedemann syndrome | (Orphanet:116) |
Behçet disease | (Orphanet:117) |
Benign recurrent intrahepatic cholestasis | (Orphanet:65682) |
Biotinidase deficiency | (Orphanet:79241) |
Blackfan-Diamond anemia | (Orphanet:124) |
Blepharophimosis-intellectual deficit syndrome, MKB type | (Orphanet:293707) |
Blepharophimosis-intellectual deficit syndrome, SBBYS type | (Orphanet:3047) |
Bohring-Opitz syndrome | (Orphanet:97297) |
Bone dysplasia, lethal Holmgren type | (Orphanet:1842) |
Borjeson-Forssman-Lehmann syndrome | (Orphanet:127) |
Bowen-Conradi syndrome | (Orphanet:1270) |
Braddock syndrome | (Orphanet:52047) |
Budd-Chiari syndrome | (Orphanet:131) |
Bullous pemphigoid | (Orphanet:703) |
C syndrome | (Orphanet:1308) |
CAMOS syndrome | (Orphanet:83472) |
CINCA syndrome | (Orphanet:1451) |
COFS syndrome | (Orphanet:1466) |
CYSTINOSIS, NEPHROPATHIC | (OMIM:219800) |
Cardiocranial syndrome, Pfeiffer type | (Orphanet:2872) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Carey-Fineman-Ziter syndrome | (Orphanet:1358) |
Cartilage-hair hypoplasia | (Orphanet:175) |
Castleman disease | (Orphanet:160) |
Cataract - intellectual deficit - hypogonadism | (Orphanet:1387) |
Catel-Manzke syndrome | (Orphanet:1388) |
Central congenital hypothyroidism | (Orphanet:226298) |
Central diabetes insipidus | (Orphanet:178029) |
Central nervous system calcification - deafness - tubular acidosis - anemia | (Orphanet:3240) |
Cerebro-costo-mandibular syndrome | (Orphanet:1393) |
Cernunnos-XLF deficiency | (Orphanet:169079) |
Cholangiocarcinoma | (Orphanet:70567) |
Cholestasis - pigmentary retinopathy - cleft palate | (Orphanet:1415) |
Choreoacanthocytosis | (Orphanet:2388) |
Christianson syndrome | (Orphanet:85278) |
Chronic hiccup | (Orphanet:396) |
Chronic recurrent multifocal osteomyelitis | (Orphanet:324964) |
Classic galactosemia | (Orphanet:79239) |
Classic multiminicore myopathy | (Orphanet:324604) |
Cockayne syndrome | (Orphanet:191) |
Coffin-Lowry syndrome | (Orphanet:192) |
Cogan syndrome | (Orphanet:1467) |
Cohen syndrome | (Orphanet:193) |
Common variable immunodeficiency | (Orphanet:1572) |
Congenital adrenal hyperplasia | (Orphanet:418) |
Congenital bile acid synthesis defect type 1 | (Orphanet:79301) |
Congenital bile acid synthesis defect type 3 | (Orphanet:79302) |
Congenital disorder of glycosylation | (Orphanet:137) |
Congenital hypothyroidism | (Orphanet:442) |
Congenital hypothyroidism due to developmental anomaly | (Orphanet:95711) |
Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies | (Orphanet:95715) |
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 non-bullous ichthyosiform erythroderma | (Orphanet:79394) |
Congenital pulmonary lymphangiectasia | (Orphanet:2414) |
Congenital toxoplasmosis | (Orphanet:858) |
Corneal anesthesia - deafness - intellectual deficit | (Orphanet:1051) |
Cornelia de Lange syndrome | (Orphanet:199) |
Costello syndrome | (Orphanet:3071) |
Cowden syndrome | (Orphanet:201) |
Criss-cross heart | (Orphanet:1461) |
Cushing syndrome due to ectopic ACTH secretion | (Orphanet:99889) |
Cutaneous photosensitivity - lethal colitis | (Orphanet:2881) |
Cutis laxa | (Orphanet:209) |
Cystinosis | (Orphanet:213) |
De Barsy syndrome | (Orphanet:2962) |
Deafness - lymphedema - leukemia | (Orphanet:3226) |
Deafness - onychodystrophy | (Orphanet:3231) |
Dermatomyositis | (Orphanet:221) |
Desmin-related myopathy with Mallory body-like inclusions | (Orphanet:84132) |
Desmoplastic small round cell tumor | (Orphanet:83469) |
Desmosterolosis | (Orphanet:35107) |
Diencephalic syndrome | (Orphanet:1672) |
Distal 22q11.2 microdeletion syndrome | (Orphanet:261330) |
Distomatosis | (Orphanet:1685) |
Drug rash with eosinophilia and systemic symptoms | (Orphanet:139402) |
Dubowitz syndrome | (Orphanet:235) |
Dyggve-Melchior-Clausen disease | (Orphanet:239) |
Dysmorphism - short stature - deafness - disorder of sex development | (Orphanet:2282) |
Dystrophic epidermolysis bullosa | (Orphanet:303) |
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 | (OMIM:615349) |
Ear-patella-short stature syndrome | (Orphanet:2554) |
Ectodermal dysplasia - intellectual deficit - central nervous system malformation | (Orphanet:1812) |
Ectodermal dysplasia syndrome | (Orphanet:79373) |
Edinburgh malformation syndrome | (Orphanet:1895) |
Ehlers-Danlos syndrome, spondylocheirodysplastic type | (Orphanet:157965) |
Ellis Van Creveld syndrome | (Orphanet:289) |
Eosinophilic fasciitis | (Orphanet:3165) |
Eosinophilic granulomatosis with polyangiitis | (Orphanet:183) |
Epidermolysis bullosa simplex | (Orphanet:304) |
Epidermolysis bullosa simplex due to plakophilin deficiency | (Orphanet:158668) |
Epidermolysis bullosa simplex with pyloric atresia | (Orphanet:158684) |
Epidermolysis bullosa simplex, Dowling-Meara type | (Orphanet:79396) |
Epidermolytic ichthyosis | (Orphanet:312) |
Erdheim-Chester disease | (Orphanet:35687) |
Erythroderma desquamativum | (Orphanet:314) |
Erythrokeratodermia variabilis | (Orphanet:317) |
Esophageal adenocarcinoma | (Orphanet:99976) |
Esophageal carcinoma | (Orphanet:70482) |
Esophageal squamous cell carcinoma | (Orphanet:99977) |
FORSYTHE-WAKELING SYNDROME | (OMIM:613606) |
Faciocardiorenal syndrome | (Orphanet:1973) |
Fallot complex - intellectual deficit - growth delay | (Orphanet:3304) |
Familial dysautonomia | (Orphanet:1764) |
Familial thrombocytosis | (Orphanet:71493) |
Familial thyroid dyshormonogenesis | (Orphanet:95716) |
Fanconi anemia | (Orphanet:84) |
Farber lipogranulomatosis | (Orphanet:333) |
Felty syndrome | (Orphanet:47612) |
Fibrodysplasia ossificans progressiva | (Orphanet:337) |
Filippi syndrome | (Orphanet:3255) |
Fine-Lubinsky syndrome | (Orphanet:1272) |
Floating-Harbor syndrome | (Orphanet:2044) |
Focal myositis | (Orphanet:48918) |
Follicular lymphoma | (Orphanet:545) |
Free sialic acid storage disease | (Orphanet:834) |
Freeman-Sheldon syndrome | (Orphanet:2053) |
Fucosidosis | (Orphanet:349) |
GAPO syndrome | (Orphanet:2067) |
GCS1-CDG | (Orphanet:79330) |
GM1 gangliosidosis | (Orphanet:354) |
GMS syndrome | (Orphanet:2090) |
GRACILE syndrome | (Orphanet:53693) |
Galactose epimerase deficiency | (Orphanet:79238) |
Galactosemia | (Orphanet:352) |
Gaucher disease | (Orphanet:355) |
Gaucher disease - ophthalmoplegia - cardiovascular calcification | (Orphanet:2072) |
Gaucher disease type 1 | (Orphanet:77259) |
Gaucher disease type 2 | (Orphanet:77260) |
Gaucher disease type 3 | (Orphanet:77261) |
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type | (Orphanet:79399) |
Genitopatellar syndrome | (Orphanet:85201) |
German syndrome | (Orphanet:2077) |
Geroderma osteodysplastica | (Orphanet:2078) |
Giant cell arteritis | (Orphanet:397) |
Glycogen storage disease due to acid maltase deficiency, late-onset | (Orphanet:420429) |
Glycogen storage disease due to phosphorylase kinase deficiency | (Orphanet:370) |
Goldenhar syndrome | (Orphanet:374) |
Granulomatosis with polyangiitis | (Orphanet:900) |
Growth delay due to insulin-like growth factor I resistance | (Orphanet:73273) |
Growth delay due to insulin-like growth factor type 1 deficiency | (Orphanet:73272) |
Growth hormone insensitivity syndrome | (Orphanet:181393) |
Haddad syndrome | (Orphanet:99803) |
Hall-Riggs syndrome | (Orphanet:2107) |
Harrod syndrome | (Orphanet:2115) |
Hennekam syndrome | (Orphanet:2136) |
Hennekam-Beemer syndrome | (Orphanet:2135) |
Hereditary central diabetes insipidus | (Orphanet:30925) |
Hereditary folate malabsorption | (Orphanet:90045) |
Hereditary nonpolyposis colon cancer | (Orphanet:144) |
Hermansky-Pudlak syndrome | (Orphanet:79430) |
Hirschsprung disease | (Orphanet:388) |
Hodgkin lymphoma | (Orphanet:98293) |
Hodgkin lymphoma, classical | (Orphanet:391) |
Holocarboxylase synthetase deficiency | (Orphanet:79242) |
Holoprosencephaly | (Orphanet:2162) |
Homocystinuria without methylmalonic aciduria | (Orphanet:622) |
Hoyeraal-Hreidarsson syndrome | (Orphanet:3322) |
Hurler syndrome | (Orphanet:93473) |
Hutchinson-Gilford progeria syndrome | (Orphanet:740) |
Hyperimmunoglobulinemia D with periodic fever | (Orphanet:343) |
Hypoglossia - hypodactyly | (Orphanet:989) |
Hypohidrotic ectodermal dysplasia | (Orphanet:238468) |
Hypoparathyroidism - deafness - renal disease | (Orphanet:2237) |
Hypophosphatasia | (Orphanet:436) |
Hypothyroidism due to TSH receptor mutations | (Orphanet:90673) |
Hypothyroidism due to deficient transcription factors involved in pituitary development or function | (Orphanet:226307) |
Hypotonia - cystinuria syndrome | (Orphanet:163690) |
Ichthyosis - intellectual deficit - dwarfism - renal impairment | (Orphanet:2278) |
Ichthyosis follicularis - alopecia - photophobia | (Orphanet:2273) |
Idiopathic congenital hypothyroidism | (Orphanet:95717) |
Infantile Refsum disease | (Orphanet:772) |
Infantile cerebellar-retinal degeneration | (Orphanet:313850) |
Infantile thalamic degeneration | (Orphanet:1577) |
Intellectual deficit - hypoplastic corpus callosum - preauricular tag | (Orphanet:1495) |
Intellectual deficit - sparse hair - brachydactyly | (Orphanet:3051) |
Intellectual deficit, X-linked - hypotonia - facial dysmorphism - aggressive behavior | (Orphanet:85329) |
Intellectual deficit, X-linked, Stevenson type | (Orphanet:85325) |
Intestinal lymphangiectasia | (Orphanet:36204) |
Isolated 3-methylcrotonyl-CoA carboxylase deficiency | (Orphanet:6) |
Isolated agammaglobulinemia | (Orphanet:229717) |
Isolated thyroid-stimulating hormone deficiency | (Orphanet:90674) |
Jacobsen syndrome | (Orphanet:2308) |
Johanson-Blizzard syndrome | (Orphanet:2315) |
Joubert syndrome | (Orphanet:475) |
Joubert syndrome with ocular defect | (Orphanet:220493) |
Joubert syndrome with orofaciodigital defect | (Orphanet:2754) |
Joubert syndrome with renal defect | (Orphanet:220497) |
Junctional epidermolysis bullosa | (Orphanet:305) |
Junctional epidermolysis bullosa, Herlitz type | (Orphanet:79404) |
Junctional epidermolysis bullosa, non-Herlitz type | (Orphanet:89840) |
Juvenile dermatomyositis | (Orphanet:93672) |
Juvenile polyposis syndrome | (Orphanet:2929) |
KABUKI SYNDROME 2 | (OMIM:300867) |
Kabuki syndrome | (Orphanet:2322) |
Kapur-Toriello syndrome | (Orphanet:2328) |
Keratosis follicularis - dwarfism - cerebral atrophy | (Orphanet:2339) |
Klatskin tumor | (Orphanet:99978) |
Kleefstra syndrome due to 9q34 microdeletion | (Orphanet:96147) |
Krabbe disease | (Orphanet:487) |
LIG4 syndrome | (Orphanet:99812) |
Lambert syndrome | (Orphanet:1296) |
Langer-Giedion syndrome | (Orphanet:502) |
Laryngeal abductor paralysis - intellectual deficit | (Orphanet:2375) |
Lathosterolosis | (Orphanet:46059) |
Leprechaunism | (Orphanet:508) |
Linear nevus sebaceus syndrome | (Orphanet:2612) |
Lipodystrophy - intellectual deficit - deafness | (Orphanet:50811) |
Lipodystrophy due to peptidic growth factors deficiency | (Orphanet:1979) |
Lissencephaly type 1 due to doublecortin gene mutation | (Orphanet:2148) |
Lowry-MacLean syndrome | (Orphanet:2409) |
Lyell syndrome | (Orphanet:537) |
MACS syndrome | (Orphanet:217335) |
MEHMO syndrome | (Orphanet:85282) |
MELAS | (Orphanet:550) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 | (OMIM:616311) |
MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE | (OMIM:612947) |
MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE,AND PSYCHOMOTOR DELAY | (OMIM:601347) |
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, X-LINKED | (OMIM:300580) |
Maffucci syndrome | (Orphanet:163634) |
Majeed syndrome | (Orphanet:77297) |
Malignant atrophic papulosis | (Orphanet:679) |
Malignant peritoneal mesothelioma | (Orphanet:168811) |
Mandibuloacral dysplasia | (Orphanet:2457) |
Mandibulofacial dysostosis-microcephaly syndrome | (Orphanet:79113) |
Mantle cell lymphoma | (Orphanet:52416) |
Marden-Walker syndrome | (Orphanet:2461) |
Marshall syndrome with periodic fever | (Orphanet:42642) |
Marshall-Smith syndrome | (Orphanet:561) |
Mast cell sarcoma | (Orphanet:66661) |
Matthew-Wood syndrome | (Orphanet:2470) |
McKusick-Kaufman syndrome | (Orphanet:2473) |
Medullary sponge kidney | (Orphanet:1309) |
Megalencephaly-capillary malformation-polymicrogyria syndrome | (Orphanet:60040) |
Melorheostosis | (Orphanet:2485) |
Menetrier disease | (Orphanet:2494) |
Methylmalonic acidemia with homocystinuria | (Orphanet:26) |
Methylmalonic acidemia with homocystinuria, type cblC | (Orphanet:79282) |
Methylmalonic acidemia with homocystinuria, type cblD | (Orphanet:79283) |
Methylmalonic acidemia with homocystinuria, type cblF | (Orphanet:79284) |
Methylmalonic acidemia without homocystinuria | (Orphanet:293355) |
Microcephalic primordial dwarfism, Alazami type | (Orphanet:319671) |
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type | (Orphanet:217026) |
Microgastria - limb reduction defect | (Orphanet:2538) |
Microlissencephaly - micromelia | (Orphanet:50810) |
Microphthalmia with limb anomalies | (Orphanet:1106) |
Microphthalmia with linear skin defects syndrome | (Orphanet:2556) |
Miller-Dieker syndrome | (Orphanet:531) |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | (Orphanet:1194) |
Moebius syndrome | (Orphanet:570) |
Monosomy 22q13 | (Orphanet:48652) |
Mosaic trisomy 14 | (Orphanet:1703) |
Mosaic variegated aneuploidy syndrome | (Orphanet:1052) |
Mucolipidosis type 2 | (Orphanet:576) |
Mucopolysaccharidosis type 6 | (Orphanet:583) |
Multiple carboxylase deficiency | (Orphanet:148) |
Multiple endocrine neoplasia type 2 | (Orphanet:653) |
Multiple osteochondromas | (Orphanet:321) |
Nephroblastoma | (Orphanet:654) |
Neuroectodermal syndrome, Johnson type | (Orphanet:2316) |
Niemann-Pick disease type A | (Orphanet:77292) |
Nodular lymphocyte predominant Hodgkin lymphoma | (Orphanet:86893) |
Nodular non-suppurative panniculitis | (Orphanet:33577) |
Non-polyposis Turcot syndrome | (Orphanet:99817) |
Non-rhizomelic chondrodysplasia punctata | (Orphanet:176) |
Noonan syndrome | (Orphanet:648) |
Noonan syndrome with multiple lentigines | (Orphanet:500) |
Norrie disease | (Orphanet:649) |
OSTEOGENESIS IMPERFECTA, TYPE XIII | (OMIM:614856) |
OVARIAN DYSGENESIS 4 | (OMIM:616185) |
Oculocerebral hypopigmentation syndrome, Cross type | (Orphanet:2719) |
Oculocerebrofacial syndrome, Kaufman type | (Orphanet:2707) |
Oculocerebrorenal syndrome | (Orphanet:534) |
Oculofaciocardiodental syndrome | (Orphanet:2712) |
Okamoto syndrome | (Orphanet:2729) |
Omenn syndrome | (Orphanet:39041) |
Omphalocele syndrome, Shprintzen-Goldberg type | (Orphanet:3164) |
Orofaciodigital syndrome type 4 | (Orphanet:2753) |
Osteoglophonic dwarfism | (Orphanet:2645) |
Osteopetrosis | (Orphanet:2781) |
Osteopetrosis with renal tubular acidosis | (Orphanet:2785) |
Otopalatodigital syndrome type 2 | (Orphanet:90652) |
Otospondylomegaepiphyseal dysplasia | (Orphanet:1427) |
PEHO syndrome | (Orphanet:2836) |
Palmoplantar keratoderma-esophageal carcinoma syndrome | (Orphanet:2198) |
Pantothenate kinase-associated neurodegeneration | (Orphanet:157850) |
Parana hard-skin syndrome | (Orphanet:2812) |
Paraplegia - brachydactyly - cone-shaped epiphysis | (Orphanet:2823) |
Partial pancreatic agenesis | (Orphanet:2805) |
Patent arterial duct | (Orphanet:706) |
Paternal 20q13.2q13.3 microdeletion syndrome | (Orphanet:261304) |
Pearson syndrome | (Orphanet:699) |
Pelizaeus-Merzbacher disease | (Orphanet:702) |
Pemphigoid gestationis | (Orphanet:63275) |
Pemphigus vulgaris | (Orphanet:704) |
Peripheral hypothyroidism | (Orphanet:226310) |
Peripheral resistance to thyroid hormones | (Orphanet:97927) |
Peritoneal cystic mesothelioma | (Orphanet:168816) |
Permanent congenital hypothyroidism | (Orphanet:226292) |
Peroxisomal acyl-CoA oxidase deficiency | (Orphanet:2971) |
Perry syndrome | (Orphanet:178509) |
Peters-plus syndrome | (Orphanet:709) |
Pili torti - developmental delay - neurological abnormalities | (Orphanet:2891) |
Pitt-Hopkins syndrome | (Orphanet:2896) |
Pituitary stalk interruption syndrome | (Orphanet:95496) |
Polyarteritis nodosa | (Orphanet:767) |
Polycythemia vera | (Orphanet:729) |
Polymyositis | (Orphanet:732) |
Pontocerebellar hypoplasia type 3 | (Orphanet:97249) |
Primary congenital hypothyroidism | (Orphanet:226295) |
Primary congenital hypothyroidism without thyroid developmental anomaly | (Orphanet:95714) |
Primary cutaneous anaplastic large cell lymphoma | (Orphanet:300865) |
Primary cutaneous lymphoma | (Orphanet:542) |
Primary intestinal lymphangiectasia | (Orphanet:90362) |
Primary peritoneal carcinoma | (Orphanet:168829) |
Progeria - short stature - pigmented nevi | (Orphanet:2959) |
Progeroid syndrome, Petty type | (Orphanet:2963) |
Progressive familial intrahepatic cholestasis | (Orphanet:172) |
Prominent glabella - microcephaly - hypogenitalism | (Orphanet:2083) |
Proteus syndrome | (Orphanet:744) |
Proximal 16p11.2 microdeletion syndrome | (Orphanet:261197) |
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia | (Orphanet:3390) |
Prune belly syndrome | (Orphanet:2970) |
Pseudoaminopterin syndrome | (Orphanet:221120) |
Pseudohypoaldosteronism type 2 | (Orphanet:757) |
Pseudomyxoma peritonei | (Orphanet:26790) |
Pulmonary blastoma | (Orphanet:64741) |
Pyomyositis | (Orphanet:764) |
Pyruvate dehydrogenase deficiency | (Orphanet:765) |
RAPADILINO syndrome | (Orphanet:3021) |
RUIJS-AALFS SYNDROME | (OMIM:616200) |
Ramon syndrome | (Orphanet:3019) |
Reactive arthritis | (Orphanet:29207) |
Recessive dystrophic epidermolysis bullosa inversa | (Orphanet:79409) |
Recessive dystrophic epidermolysis bullosa-generalized other | (Orphanet:89842) |
Renpenning syndrome | (Orphanet:3242) |
Resistance to thyrotropin-releasing hormone syndrome | (Orphanet:99832) |
Reticular dysgenesis | (Orphanet:33355) |
Rett syndrome | (Orphanet:778) |
Rhabdoid tumor | (Orphanet:69077) |
Rhizomelic chondrodysplasia punctata | (Orphanet:177) |
Richieri Costa-Pereira syndrome | (Orphanet:3102) |
Rift valley fever | (Orphanet:319251) |
Rigid spine syndrome | (Orphanet:97244) |
Ring chromosome 1 | (Orphanet:1437) |
Rothmund-Thomson syndrome | (Orphanet:2909) |
Rothmund-Thomson syndrome type 1 | (Orphanet:221008) |
Rothmund-Thomson syndrome type 2 | (Orphanet:221016) |
Rubinstein-Taybi syndrome | (Orphanet:783) |
SECKEL SYNDROME 4 | (OMIM:613676) |
SHORT syndrome | (Orphanet:3163) |
SMITH-MCCORT DYSPLASIA 2 | (OMIM:615222) |
Sandhoff disease | (Orphanet:796) |
Sanjad-Sakati syndrome | (Orphanet:2323) |
Schinzel-Giedion syndrome | (Orphanet:798) |
Schwartz-Jampel syndrome | (Orphanet:800) |
Scleroderma | (Orphanet:801) |
Severe combined immunodeficiency | (Orphanet:183660) |
Severe generalized recessive dystrophic epidermolysis bullosa | (Orphanet:79408) |
Severe intellectual deficit - epilepsy - anal anomalies - distal phalangeal hypoplasia | (Orphanet:94066) |
Short stature - heart defect - craniofacial anomalies | (Orphanet:1088) |
Shprintzen-Goldberg syndrome | (Orphanet:2462) |
Shwachman-Diamond syndrome | (Orphanet:811) |
Siegler-Brewer-Carey syndrome | (Orphanet:3167) |
Silver-Russell syndrome | (Orphanet:813) |
Singleton-Merten dysplasia | (Orphanet:85191) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Smith-Magenis syndrome | (Orphanet:819) |
Sotos syndrome | (Orphanet:821) |
Spastic paraplegia 63, autosomal recessive | (OMIM:615686) |
Spondylo-ocular syndrome | (Orphanet:85194) |
Spondyloepimetaphyseal dysplasia with joint laxity | (Orphanet:93359) |
Stevens-Johnson syndrome | (Orphanet:36426) |
Stickler syndrome | (Orphanet:828) |
Sudden infant death - dysgenesis of the testes | (Orphanet:168593) |
Syngnathia multiple anomalies | (Orphanet:3262) |
Systemic capillary leak syndrome | (Orphanet:188) |
Systemic sclerosis | (Orphanet:90291) |
THREE M SYNDROME 3 | (OMIM:614205) |
TRIGLYCERIDE STORAGE DISEASE, TYPE I | (OMIM:190420) |
Takayasu arteritis | (Orphanet:3287) |
Thymic carcinoma | (Orphanet:99868) |
Thymic epithelial neoplasm | (Orphanet:3398) |
Thyroid ectopia | (Orphanet:95712) |
Thyroid hemiagenesis | (Orphanet:95719) |
Thyroid hypoplasia | (Orphanet:95720) |
Toriello-Carey syndrome | (Orphanet:3338) |
Toriello-Lacassie-Droste syndrome | (Orphanet:3339) |
Townes-Brocks syndrome | (Orphanet:857) |
Transient congenital hypothyroidism | (Orphanet:178045) |
Treacher-Collins syndrome | (Orphanet:861) |
Tricho-oculo-dermo-vertebral syndrome | (Orphanet:3354) |
Trisomy 17p | (Orphanet:261290) |
Trisomy 18 | (Orphanet:3380) |
Vici syndrome | (Orphanet:1493) |
Vitamin B12-responsive methylmalonic acidemia | (Orphanet:28) |
Vitamin B12-unresponsive methylmalonic acidemia type mut- | (Orphanet:79312) |
Vitamin B12-unresponsive methylmalonic acidemia type mut0 | (Orphanet:289916) |
Weaver syndrome | (Orphanet:3447) |
Wiedemann-Rautenstrauch syndrome | (Orphanet:3455) |
Williams syndrome | (Orphanet:904) |
Wolf-Hirschhorn syndrome | (Orphanet:280) |
Wolman disease | (Orphanet:75233) |
Wrinkly skin syndrome | (Orphanet:2834) |
X-linked agammaglobulinemia | (Orphanet:47) |
X-linked creatine transporter deficiency | (Orphanet:52503) |
X-linked distal arthrogryposis multiplex congenita | (Orphanet:1145) |
X-linked intellectual deficit, Golabi-Ito-Hall type | (Orphanet:93947) |
X-linked intellectual deficit, Najm type | (Orphanet:163937) |
Xeroderma pigmentosum | (Orphanet:910) |
Xeroderma pigmentosum complementation group F | (Orphanet:276264) |
Xq27.3q28 duplication syndrome | (Orphanet:261483) |
Yunis-Varon syndrome | (Orphanet:3472) |
Zellweger syndrome | (Orphanet:912) |
Zellweger-like syndrome without peroxisomal anomalies | (Orphanet:50812) |