Decreased body weight

Symptom Information:

Symptom ID: HPO:0004325
Decreased weight [HPO:0004325]
Low body weight [HPO:0004325]
Low weight [HPO:0004325]
Weight less than 3rd percentile [HPO:0004325]
Decreased weight [OMIM:Decreased weight]
Low body weight [OMIM:Low body weight]
Low weight [OMIM:Low weight]
Weight less than 3rd percentile [OMIM:Weight less than 3rd percentile]
Low weight (15 of 21) [OMIM:Low weight (15 of 21)]
Low weight (<25% centile) [OMIM:Low weight (<25% centile)]
Low weight (<3.5 SD below the mean) [OMIM:Low weight (<3.5 SD below the mean)]
Low weight (<3rd percentile) [OMIM:Low weight (<3rd percentile)]
Low weight (in some patients) [OMIM:Low weight (in some patients)]
Low weight (third percentile) [OMIM:Low weight (third percentile)]
Cross references:
OMIM: "Decreased weight" [OMIM:Decreased weight]
OMIM: "Low body weight" [OMIM:Low body weight]
OMIM: "Low weight" [OMIM:Low weight]
OMIM: "Weight less than 3rd percentile" [OMIM:Weight less than 3rd percentile]
OMIM: "Low weight (15 of 21)" [OMIM:Low weight (15 of 21)]
OMIM: "Low weight (<25% centile)" [OMIM:Low weight (<25% centile)]
OMIM: "Low weight (<3.5 SD below the mean)" [OMIM:Low weight (<3.5 SD below the mean)]
OMIM: "Low weight (<3rd percentile)" [OMIM:Low weight (<3rd percentile)]
OMIM: "Low weight (in some patients)" [OMIM:Low weight (in some patients)]
OMIM: "Low weight (third percentile)" [OMIM:Low weight (third percentile)]
Is a (Direct Parents):
HPO         Abnormality of body weight
Is a (Whole tree): HPO:
    Phenotypic abnormality(HPO:0000118)
       Growth abnormality(HPO:0001507)
          Abnormality of body weight(HPO:0004323)
             Decreased body weight(HPO:0004325)
Database Frequency: 492 / 7739

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)
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)
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)
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)
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 (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)
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)
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)
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)
SHORT syndrome (Orphanet:3163)
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)
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)