Short stature
Symptom Information:
Symptom ID: | HPO:0004322 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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) Growth delay(HPO:0001510) Short stature(HPO:0004322) Abnormality of body height(HPO:0000002) Short stature(HPO:0004322) MedDRA: Musculoskeletal and connective tissue disorders(MedDRA:10028395) Bone disorders (excl congenital and fractures)(MedDRA:10005959) Metabolic bone disorders(MedDRA:10027425) Short stature(HPO:0004322) Investigations(MedDRA:10022891) Physical examination and organ system status topics(MedDRA:10071940) Physical examination procedures and organ system status(MedDRA:10071941) Short stature(HPO:0004322) |
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Database Frequency: | 1232 / 7739 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
12q14 microdeletion syndrome | (Orphanet:94063) |
14q22q23 microdeletion syndrome | (Orphanet:264200) |
15q11q13 microduplication syndrome | (Orphanet:238446) |
15q13.3 microdeletion syndrome | (Orphanet:199318) |
15q14 microdeletion syndrome | (Orphanet:261190) |
15q24 microdeletion syndrome | (Orphanet:94065) |
16p11.2p12.2 microdeletion syndrome | (Orphanet:261211) |
16p13.11 microdeletion syndrome | (Orphanet:261236) |
17p11.2 microduplication syndrome | (Orphanet:1713) |
17q11.2 microduplication syndrome | (Orphanet:139474) |
17q12 microdeletion syndrome | (Orphanet:261265) |
17q23.1q23.2 microdeletion syndrome | (Orphanet:261279) |
19q13.11 microdeletion syndrome | (Orphanet:217346) |
1p36 deletion syndrome | (Orphanet:1606) |
1q21.1 microdeletion syndrome | (Orphanet:250989) |
1q41q42 microdeletion syndrome | (Orphanet:250999) |
1q44 microdeletion syndrome | (Orphanet:238769) |
20p12.3 microdeletion syndrome | (Orphanet:261295) |
22q11.2 deletion syndrome | (Orphanet:567) |
2p15p16.1 microdeletion syndrome | (Orphanet:261349) |
2q23.1 microdeletion syndrome | (Orphanet:228402) |
2q31.1 microdeletion syndrome | (Orphanet:251014) |
2q32q33 microdeletion syndrome | (Orphanet:251019) |
2q37 microdeletion syndrome | (Orphanet:1001) |
3C syndrome | (Orphanet:7) |
3M syndrome | (Orphanet:2616) |
46,XX gonadal dysgenesis | (Orphanet:243) |
49,XXXXY syndrome | (Orphanet:96264) |
5q35 microduplication syndrome | (Orphanet:228415) |
6q16 deletion syndrome | (Orphanet:171829) |
6q25 microdeletion syndrome | (Orphanet:251056) |
8p11.2 deletion syndrome | (Orphanet:251066) |
8p23.1 microdeletion syndrome | (Orphanet:251071) |
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME | (OMIM:231550) |
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE | (OMIM:101800) |
AGONADISM, 46,XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDEDBONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS | (OMIM:600908) |
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib | (OMIM:615631) |
APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIALDYSMORPHISM, AND OTHER CONGENITAL ANOMALIES | (OMIM:300887) |
AREDYLD syndrome | (Orphanet:1133) |
ARTERIOSCLEROSIS, SEVERE JUVENILE | (OMIM:208060) |
ASTHMA, SHORT STATURE, AND ELEVATED IgA | (OMIM:208600) |
ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS ANDDIABETES MELLITUS | (OMIM:616192) |
ATAXIA-TELANGIECTASIA | (OMIM:208900) |
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET | (OMIM:615952) |
AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS | (OMIM:616050) |
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES | (OMIM:109120) |
Aarskog-Scott syndrome | (Orphanet:915) |
Abruzzo-Erickson syndrome | (Orphanet:921) |
Absent thumb - short stature - immunodeficiency | (Orphanet:2951) |
Absent tibia - polydactyly | (Orphanet:988) |
Achondrogenesis | (Orphanet:932) |
Achondrogenesis type 1A | (Orphanet:93299) |
Achondrogenesis type 1B | (Orphanet:93298) |
Achondrogenesis type 2 | (Orphanet:93296) |
Achondroplasia | (Orphanet:15) |
Acro-fronto-facio-nasal dysostosis | (Orphanet:1784) |
Acro-oto-ocular syndrome | (Orphanet:2980) |
Acrocapitofemoral dysplasia | (Orphanet:63446) |
Acrocraniofacial dysostosis | (Orphanet:949) |
Acrodermatitis enteropathica, zinc deficiency type | (Orphanet:37) |
Acrodysostosis | (Orphanet:950) |
Acrofacial dysostosis, Catania type | (Orphanet:1786) |
Acrofacial dysostosis, Palagonia type | (Orphanet:1787) |
Acrofacial dysostosis, Rodriguez type | (Orphanet:1788) |
Acrofacial dysostosis, Weyers type | (Orphanet:952) |
Acrogeria | (Orphanet:2500) |
Acromesomelic dysplasia, Grebe type | (Orphanet:2098) |
Acromesomelic dysplasia, Hunter-Thomson type | (Orphanet:968) |
Acromesomelic dysplasia, Maroteaux type | (Orphanet:40) |
Acromicric dysplasia | (Orphanet:969) |
Adrenomyodystrophy | (Orphanet:977) |
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia | (Orphanet:52055) |
Aicardi-Goutières syndrome | (Orphanet:51) |
Albers-Schönberg osteopetrosis | (Orphanet:53) |
Albright hereditary osteodystrophy | (Orphanet:665) |
Alopecia - contractures - dwarfism - intellectual deficit | (Orphanet:1005) |
Alopecia antibody deficiency | (Orphanet:1006) |
Alopecia-intellectual deficit syndrome | (Orphanet:2850) |
Alpha-thalassemia - X-linked intellectual deficit syndrome | (Orphanet:847) |
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 | (Orphanet:98791) |
Alström syndrome | (Orphanet:64) |
Amelo-cerebro-hypohidrotic syndrome | (Orphanet:1946) |
Aminopterin/methotrexate embryofetopathy | (Orphanet:1908) |
Angel-shaped phalango-epiphyseal dysplasia | (Orphanet:63442) |
Aniridia - renal agenesis - psychomotor retardation | (Orphanet:1064) |
Anophthalmia/microphthalmia - esophageal atresia | (Orphanet:77298) |
Aphalangy - syndactyly - microcephaly | (Orphanet:1113) |
Apparent mineralocorticoid excess | (Orphanet:320) |
Argininosuccinic aciduria | (Orphanet:23) |
Aromatase excess syndrome | (Orphanet:178345) |
Arterial calcification, generalized, of infancy, 1 | (OMIM:208000) |
Arthrogryposis multiplex congenita - whistling face | (Orphanet:1150) |
Arthrogryposis with oculomotor limitation and electroretinal anomalies | (Orphanet:1154) |
Arthrogryposis-like hand anomaly - sensorineural deafness | (Orphanet:1144) |
Aspartylglucosaminuria | (Orphanet:93) |
Astley-Kendall dysplasia | (Orphanet:85175) |
Ataxia - photosensitivity - short stature | (Orphanet:1184) |
Ataxia-telangiectasia | (Orphanet:100) |
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy | (Orphanet:1192) |
Athyreosis | (Orphanet:95713) |
Atkin-Flaitz syndrome | (Orphanet:1193) |
Auriculoosteodysplasia | (Orphanet:114) |
Autoimmune lymphoproliferative syndrome with recurrent infections | (Orphanet:275517) |
Autosomal dominant Charcot-Marie-Tooth disease type 2C | (Orphanet:99937) |
Autosomal dominant Larsen syndrome | (Orphanet:503) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal dominant brachyolmia | (Orphanet:93304) |
Autosomal dominant hypophosphatemic rickets | (Orphanet:89937) |
Autosomal dominant microcephaly | (Orphanet:2514) |
Autosomal dominant multiple pterygium syndrome | (Orphanet:65743) |
Autosomal dominant nonsyndromic intellectual deficit | (Orphanet:178469) |
Autosomal dominant spastic paraplegia type 9 | (Orphanet:100990) |
Autosomal dominant spondylocostal dysostosis | (Orphanet:1797) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
Autosomal recessive Stickler syndrome | (Orphanet:250984) |
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome | (Orphanet:363429) |
Autosomal recessive cerebelloparenchymal disorder type 3 | (Orphanet:1170) |
Autosomal recessive chorioretinopathy-microcephaly | (Orphanet:2518) |
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency | (Orphanet:324262) |
Autosomal recessive distal osteolysis syndrome | (Orphanet:2776) |
Autosomal recessive facio-digito-genital syndrome | (Orphanet:1974) |
Autosomal recessive limb-girdle muscular dystrophy type 2S | (Orphanet:369840) |
Autosomal recessive multiple pterygium syndrome | (Orphanet:2990) |
Autosomal recessive omodysplasia | (Orphanet:93329) |
Autosomal recessive primary microcephaly | (Orphanet:2512) |
Autosomal recessive spastic paraplegia type 20 | (Orphanet:101000) |
Autosomal recessive spastic paraplegia type 45 | (Orphanet:320396) |
Autosomal recessive spastic paraplegia type 49 | (Orphanet:320385) |
Autosomal recessive spastic paraplegia type 54 | (Orphanet:320380) |
Autosomal recessive spondylocostal dysostosis | (Orphanet:2311) |
Axial mesodermal dysplasia spectrum | (Orphanet:1834) |
Axial spondylometaphyseal dysplasia | (Orphanet:168549) |
BARAITSER-WINTER SYNDROME 1 | (OMIM:243310) |
BARAITSER-WINTER SYNDROME 2 | (OMIM:614583) |
BARTTER SYNDROME, ANTENATAL, TYPE 1 | (OMIM:601678) |
BARTTER SYNDROME, ANTENATAL, TYPE 2 | (OMIM:241200) |
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, CHILDHOOD-ONSET | (OMIM:114100) |
BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION | (OMIM:210050) |
BRACHYDACTYLY, COLOBOMA, AND ANTERIOR SEGMENT DYSGENESIS | (OMIM:610023) |
BRACHYDACTYLY, TYPE A1 | (OMIM:112500) |
BRACHYDACTYLY, TYPE A1, B | (OMIM:607004) |
BRACHYDACTYLY, TYPE A1, C | (OMIM:615072) |
BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY,PTOSIS, HEARING LOSS, AND MENTAL RETARDATION | (OMIM:613627) |
BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II | (OMIM:113301) |
BRACHYDACTYLY, TYPE E2 | (OMIM:613382) |
BRUCK SYNDROME 1 | (OMIM:259450) |
BRUCK SYNDROME 2 | (OMIM:609220) |
Baller-Gerold syndrome | (Orphanet:1225) |
Bangstad syndrome | (Orphanet:1227) |
Bannayan-Riley-Ruvalcaba syndrome | (Orphanet:109) |
Baraitser-Winter syndrome | (Orphanet:2995) |
Bardet-Biedl syndrome | (Orphanet:110) |
Bardet-Biedl syndrome 1 | (OMIM:209900 ) |
Bardet-Biedl syndrome 12 | (OMIM:615989) |
Bardet-Biedl syndrome 16 | (OMIM:615993) |
Bartter syndrome | (Orphanet:112) |
Bartter syndrome with hypocalcemia | (Orphanet:263417) |
Biemond syndrome type 2 | (Orphanet:141333) |
Bird headed-dwarfism, Montreal type | (Orphanet:2617) |
Blackfan-Diamond anemia | (Orphanet:124) |
Blepharophimosis - ptosis - esotropia - syndactyly - short stature | (Orphanet:2057) |
Blepharophimosis - radioulnar synostosis | (Orphanet:1256) |
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency | (Orphanet:329255) |
Blepharophimosis-intellectual deficit syndrome, Ohdo type | (Orphanet:2728) |
Blepharophimosis-intellectual deficit syndrome, SBBYS type | (Orphanet:3047) |
Bloom syndrome | (Orphanet:125) |
Bohring-Opitz syndrome | (Orphanet:97297) |
Bone dysplasia, lethal Holmgren type | (Orphanet:1842) |
Bonnemann-Meinecke-Reich syndrome | (Orphanet:1261) |
Boomerang dysplasia | (Orphanet:1263) |
Borjeson-Forssman-Lehmann syndrome | (Orphanet:127) |
Bowen-Conradi syndrome | (Orphanet:1270) |
Brachydactylous dwarfism, Mseleni type | (Orphanet:2619) |
Brachydactyly - arterial hypertension | (Orphanet:1276) |
Brachydactyly type A1 | (Orphanet:93388) |
Brachydactyly type A2 | (Orphanet:93396) |
Brachydactyly type A4 | (Orphanet:93394) |
Brachydactyly type A6 | (Orphanet:93382) |
Brachydactyly type C | (Orphanet:93384) |
Brachydactyly type E | (Orphanet:93387) |
Brachymorphism - onychodysplasia - dysphalangism | (Orphanet:1292) |
Brachyolmia | (Orphanet:1293) |
Brachyolmia type 1, Hobaek type | (Orphanet:93301) |
Brachyolmia type 1, Toledo type | (Orphanet:93303) |
Brachyolmia, Maroteaux type | (Orphanet:93302) |
Brachyolmia-amelogenesis imperfecta syndrome | (Orphanet:2899) |
Brachytelephalangic chondrodysplasia punctata | (Orphanet:79345) |
Braddock syndrome | (Orphanet:52047) |
Brain calcification, Rajab type | (Orphanet:178506) |
Brain malformation - congenital heart disease - postaxial polydactyly | (Orphanet:75389) |
Branchio-oculo-facial syndrome | (Orphanet:1297) |
Branchiogenic deafness syndrome | (Orphanet:50815) |
Bruck syndrome | (Orphanet:2771) |
Bullous dystrophy, macular type | (Orphanet:1867) |
Buschke-Ollendorff syndrome | (Orphanet:1306) |
C syndrome | (Orphanet:1308) |
CAMOS syndrome | (Orphanet:83472) |
CANDLE syndrome | (Orphanet:325004) |
CARDIAC MALFORMATION, CLEFT LIP/PALATE, MICROCEPHALY AND DIGITAL ANOMALIES | (OMIM:600987) |
CARDIOFACIOCUTANEOUS SYNDROME 4 | (OMIM:615280) |
CARPENTER SYNDROME 1 | (OMIM:201000) |
CATARACT, ATAXIA, SHORT STATURE, AND MENTAL RETARDATION | (OMIM:300619) |
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION | (OMIM:601088) |
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURALHEARING LOSS, AND SKELETAL DYSPLASIA | (OMIM:616007) |
CEDNIK syndrome | (Orphanet:66631) |
CELIAC DISEASE, SUSCEPTIBILITY TO, 1 | (OMIM:212750) |
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME1 | (OMIM:224050) |
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME2 | (OMIM:610185) |
CEREBELLOFACIODENTAL SYNDROME | (OMIM:616202) |
CEREBROOCULOFACIOSKELETAL SYNDROME 4 | (OMIM:610758) |
CHARGE syndrome | (Orphanet:138) |
CHILD syndrome | (Orphanet:139) |
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE | (OMIM:302950) |
CHONDROITIN-6-SULFATURIA, DEFECTIVE CELLULAR IMMUNITY, NEPHROTIC SYNDROME | (OMIM:215250) |
CHROMOSOME 15q25 DELETION SYNDROME | (OMIM:614294) |
CHROMOSOME 2q31.1 DUPLICATION SYNDROME | (OMIM:613681) |
CHROMOSOME 6q11-q14 DELETION SYNDROMECHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED | (OMIM:613544) |
CILIARY DYSKINESIA, PRIMARY, 11 | (OMIM:612649) |
CILIARY DYSKINESIA, PRIMARY, 12 | (OMIM:612650) |
CODAS syndrome | (Orphanet:1458) |
COFFIN-SIRIS SYNDROME | (OMIM:135900) |
COFS syndrome | (Orphanet:1466) |
COLE-CARPENTER SYNDROME 2 | (OMIM:616294) |
CORNELIA DE LANGE SYNDROME 1 | (OMIM:122470) |
CORNELIA DE LANGE SYNDROME 2 | (OMIM:300590) |
CORNELIA DE LANGE SYNDROME 3 | (OMIM:610759) |
CORNELIA DE LANGE SYNDROME 4 | (OMIM:614701) |
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | (OMIM:122860) |
CRANIOMETADIAPHYSEAL DYSPLASIA | (OMIM:269300) |
CULLER-JONES SYNDROME | (OMIM:615849) |
CYSTINOSIS, NEPHROPATHIC | (OMIM:219800) |
Cabezas syndrome | (Orphanet:85293) |
Campomelia, Cumming type | (Orphanet:1318) |
Campomelic dysplasia | (Orphanet:140) |
Camptodactyly - joint contractures - facial skeletal defects | (Orphanet:1323) |
Camptodactyly syndrome, Guadalajara type 1 | (Orphanet:1327) |
Camptodactyly syndrome, Guadalajara type 2 | (Orphanet:1326) |
Cardiocranial syndrome, Pfeiffer type | (Orphanet:2872) |
Cardiodysrhythmic potassium-sensitive periodic paralysis | (Orphanet:37553) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Cardiospondylocarpofacial syndrome | (Orphanet:3238) |
Carey-Fineman-Ziter syndrome | (Orphanet:1358) |
Carney complex-trismus-pseudocamptodactyly syndrome | (Orphanet:319340) |
Carpenter syndrome | (Orphanet:65759) |
Carpenter-Waziri syndrome | (Orphanet:93973) |
Cartilage-hair hypoplasia | (Orphanet:175) |
Cat-eye syndrome | (Orphanet:195) |
Cataract - aberrant oral frenula - growth delay | (Orphanet:1373) |
Cataract - ataxia - deafness | (Orphanet:1368) |
Cataract - deafness - hypogonadism | (Orphanet:1383) |
Cataract - intellectual deficit - hypogonadism | (Orphanet:1387) |
Cataract - nephropathy - encephalopathy | (Orphanet:1380) |
Catel-Manzke syndrome | (Orphanet:1388) |
Caudal appendage - deafness | (Orphanet:1123) |
Central precocious puberty | (Orphanet:759) |
Cerebellar ataxia - hypogonadism | (Orphanet:1173) |
Cerebro-costo-mandibular syndrome | (Orphanet:1393) |
Cerebro-facio-thoracic dysplasia | (Orphanet:1394) |
Cerebro-reno-digital syndrome | (Orphanet:1396) |
Childhood-onset hypophosphatasia | (Orphanet:247667) |
Choanal atresia - deafness - cardiac defects - dysmorphism | (Orphanet:1200) |
Chondrodysplasia - disorder of sex development | (Orphanet:1422) |
Chondrodysplasia with joint dislocations, gPAPP type | (Orphanet:280586) |
Chondrodysplasia, Blomstrand type | (Orphanet:50945) |
Choreoacanthocytosis | (Orphanet:2388) |
Choroideremia - hypopituitarism | (Orphanet:1434) |
Chudley-Lowry-Hoar syndrome | (Orphanet:93971) |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | (Orphanet:90794) |
Classic multiminicore myopathy | (Orphanet:324604) |
Cleft palate - large ears - small head | (Orphanet:2013) |
Cleft palate - short stature - vertebral anomalies | (Orphanet:2015) |
Cleidocranial dysplasia | (Orphanet:1452) |
Cleidorhizomelic syndrome | (Orphanet:1453) |
Coats plus syndrome | (Orphanet:313838) |
Cockayne syndrome | (Orphanet:191) |
Coffin-Lowry syndrome | (Orphanet:192) |
Coffin-Siris syndrome | (Orphanet:1465) |
Cohen syndrome | (Orphanet:193) |
Cole-Carpenter syndrome | (Orphanet:2050) |
Coloboma of macula - brachydactyly type B | (Orphanet:1471) |
Combined oxidative phosphorylation defect type 15 | (Orphanet:319524) |
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | (Orphanet:90795) |
Congenital amegakaryocytic thrombocytopenia | (Orphanet:3319) |
Congenital cataracts - facial dysmorphism - neuropathy | (Orphanet:48431) |
Congenital dyserythropoietic anemia type IV | (Orphanet:293825) |
Congenital erythropoietic porphyria | (Orphanet:79277) |
Congenital hypothyroidism | (Orphanet:442) |
Congenital laryngeal web | (Orphanet:2374) |
Congenital non-bullous ichthyosiform erythroderma | (Orphanet:79394) |
Congenital osteogenesis imperfecta - microcephaly - cataracts | (Orphanet:2772) |
Congenital pseudoarthrosis of clavicle | (Orphanet:66630) |
Congenital rubella syndrome | (Orphanet:290) |
Congenital short bowel syndrome | (Orphanet:2301) |
Congenital unilateral hypoplasia of depressor anguli oris | (Orphanet:1166) |
Cooper-Jabs syndrome | (Orphanet:1488) |
Corneal anesthesia - deafness - intellectual deficit | (Orphanet:1051) |
Cornelia de Lange syndrome | (Orphanet:199) |
Cortical blindness - intellectual deficit - polydactyly | (Orphanet:1389) |
Costello syndrome | (Orphanet:3071) |
Cowden syndrome | (Orphanet:201) |
Coxoauricular syndrome | (Orphanet:1508) |
Craniodiaphyseal dysplasia | (Orphanet:1513) |
Cranioectodermal dysplasia 2 | (OMIM:613610) |
Cranioectodermal dysplasia 3 | (OMIM:614099) |
Cranioectodermal dysplasia 4 | (OMIM:614378) |
Craniofacial dyssynostosis | (Orphanet:1516) |
Craniofaciofrontodigital syndrome | (Orphanet:363705) |
Craniofrontonasal dysplasia | (Orphanet:1520) |
Craniolenticulosutural dysplasia | (Orphanet:50814) |
Craniometadiaphyseal dysplasia, wormian bone type | (Orphanet:85184) |
Craniosynostosis, Herrmann-Opitz type | (Orphanet:2145) |
Cutis laxa | (Orphanet:209) |
Cystinosis | (Orphanet:213) |
DESBUQUOIS DYSPLASIA 2 | (OMIM:615777) |
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL | (OMIM:125800) |
DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED | (OMIM:304800) |
DIAMOND-BLACKFAN ANEMIA 1 | (OMIM:105650) |
DIAMOND-BLACKFAN ANEMIA 10 | (OMIM:613309) |
DIAMOND-BLACKFAN ANEMIA 11 | (OMIM:614900) |
DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS | (OMIM:606164) |
DIGEORGE SYNDROME | (OMIM:188400) |
DK1-CDG | (Orphanet:91131) |
DWARFISM, FAMILIAL, WITH MUSCLE SPASMS | (OMIM:600771) |
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2 | (OMIM:613989) |
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 | (OMIM:613990) |
Dahlberg-Borer-Newcomer syndrome | (Orphanet:1563) |
De Barsy syndrome | (Orphanet:2962) |
Deafness - enamel hypoplasia - nail defects | (Orphanet:3220) |
Deafness - epiphyseal dysplasia - short stature | (Orphanet:3218) |
Deafness - intellectual deficit, Martin-Probst type | (Orphanet:85321) |
Deafness - vitiligo - achalasia | (Orphanet:3239) |
Dent disease type 1 | (Orphanet:93622) |
Dent disease type 2 | (Orphanet:93623) |
Dentinogenesis imperfecta - short stature - hearing loss - intellectual deficit | (Orphanet:71267) |
Dermato-cardio-skeletal syndrome, Borrone type | (Orphanet:1266) |
Desbuquois syndrome | (Orphanet:1425) |
Desmin-related myopathy with Mallory body-like inclusions | (Orphanet:84132) |
Desmosterolosis | (Orphanet:35107) |
Developmental malformations - deafness - dystonia | (Orphanet:79107) |
Diastrophic dwarfism | (Orphanet:628) |
Distal 22q11.2 microdeletion syndrome | (Orphanet:261330) |
Distal arthrogryposis type 5D | (Orphanet:329457) |
Distal limb deficiencies - micrognathia syndrome | (Orphanet:1307) |
Distal monosomy 10p | (Orphanet:1580) |
Distal monosomy 10q | (Orphanet:96148) |
Distal monosomy 13q | (Orphanet:1590) |
Distal monosomy 15q | (Orphanet:1596) |
Distal monosomy 17q | (Orphanet:1597) |
Distal monosomy 1q | (Orphanet:36367) |
Distal monosomy 3p | (Orphanet:1620) |
Distal monosomy 7q36 | (Orphanet:1636) |
Distal trisomy 14q | (Orphanet:1705) |
Distal trisomy 18q | (Orphanet:1716) |
Distal trisomy 6p | (Orphanet:1745) |
Down syndrome | (Orphanet:870) |
Duane anomaly - myopathy - scoliosis | (Orphanet:50817) |
Dubowitz syndrome | (Orphanet:235) |
Dwarfism - intellectual deficit - eye abnormality | (Orphanet:2650) |
Dyggve-Melchior-Clausen disease | (Orphanet:239) |
Dyschondrosteosis - nephritis | (Orphanet:1765) |
Dyschromatosis universalis | (Orphanet:241) |
Dyschromatosis universalis hereditaria 1 | (OMIM:127500) |
Dyschromatosis universalis hereditaria 2 | (OMIM:612715) |
Dyschromatosis universalis hereditaris 3 | (OMIM:615402) |
Dysequilibrium syndrome | (Orphanet:1766) |
Dyskeratosis congenita | (Orphanet:1775) |
Dysmorphism - conductive hearing loss - heart defect | (Orphanet:289553) |
Dysmorphism - short stature - deafness - disorder of sex development | (Orphanet:2282) |
Dysosteosclerosis | (Orphanet:1782) |
Dysostosis, Stanescu type | (Orphanet:1798) |
Dysplastic cortical hyperostosis | (Orphanet:2204) |
Dyssegmental dysplasia, Silverman-Handmaker type | (Orphanet:1865) |
Dysspondyloenchondromatosis | (Orphanet:85198) |
EAST syndrome | (Orphanet:199343) |
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME | (OMIM:616029) |
EEC syndrome | (Orphanet:1896) |
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1 | (OMIM:130070) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 | (OMIM:616339) |
EXOSTOSES, MULTIPLE, TYPE II | (OMIM:133701) |
EXTRASYSTOLES, MULTIFORM VENTRICULAR, WITH SHORT STATURE, HYPERPIGMENTATIONAND MICROCEPHALY | (OMIM:133750) |
Ear-patella-short stature syndrome | (Orphanet:2554) |
Ectodermal dysplasia - blindness | (Orphanet:1806) |
Ectodermal dysplasia - sensorineural deafness | (Orphanet:1883) |
Ectodermal dysplasia with natal teeth, Turnpenny type | (Orphanet:69083) |
Ectodermal dysplasia, Berlin type | (Orphanet:1816) |
Ehlers-Danlos syndrome type 1 | (Orphanet:90309) |
Ehlers-Danlos syndrome type 7A | (Orphanet:99875) |
Ehlers-Danlos syndrome type 7B | (Orphanet:99876) |
Ehlers-Danlos syndrome, arthrochalasic type | (Orphanet:1899) |
Ehlers-Danlos syndrome, classic type | (Orphanet:287) |
Ehlers-Danlos syndrome, dermatosparaxis type | (Orphanet:1901) |
Ehlers-Danlos syndrome, periodontitis type | (Orphanet:75392) |
Ehlers-Danlos syndrome, progeroid type | (Orphanet:75496) |
Ehlers-Danlos syndrome, spondylocheirodysplastic type | (Orphanet:157965) |
Ehlers-Danlos syndrome, vascular type | (Orphanet:286) |
Ellis Van Creveld syndrome | (Orphanet:289) |
Emery-Nelson syndrome | (Orphanet:1927) |
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria | (Orphanet:1035) |
Endosteal sclerosis - cerebellar hypoplasia | (Orphanet:85186) |
Eng-Strom syndrome | (Orphanet:1937) |
Epidermolysis bullosa simplex with muscular dystrophy | (Orphanet:257) |
Epilepsy telangiectasia | (Orphanet:1951) |
Epimetaphyseal skeletal dysplasia | (Orphanet:1819) |
Epiphyseal dysplasia - hearing loss - dysmorphism | (Orphanet:1825) |
Ermine phenotype | (Orphanet:999) |
Erythrokeratodermia variabilis | (Orphanet:317) |
Extrasystoles - short stature - hyperpigmentation - microcephaly | (Orphanet:1964) |
Eye defects - arachnodactyly - cardiopathy | (Orphanet:2725) |
FACES syndrome | (Orphanet:1969) |
FANCONI ANEMIA, COMPLEMENTATION GROUP A | (OMIM:227650) |
FANCONI ANEMIA, COMPLEMENTATION GROUP C | (OMIM:227645) |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 | (OMIM:227646) |
FANCONI ANEMIA, COMPLEMENTATION GROUP E | (OMIM:600901) |
FANCONI ANEMIA, COMPLEMENTATION GROUP I | (OMIM:609053) |
FANCONI ANEMIA, COMPLEMENTATION GROUP O | (OMIM:613390) |
FANCONI ANEMIA, COMPLEMENTATION GROUP P | (OMIM:613951) |
FANCONI ANEMIA, COMPLEMENTATION GROUP Q | (OMIM:615272) |
FANCONI RENOTUBULAR SYNDROME 2 | (OMIM:613388) |
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THEYOUNG | (OMIM:616026) |
FEINGOLD SYNDROME 2 | (OMIM:614326) |
FIBROCHONDROGENESIS 1 | (OMIM:228520) |
FINGER LOCKING, RECURRENT, WITH INTRAUTERINE GROWTH RETARDATION ANDPROPORTIONATE SHORT STATURE | (OMIM:135950) |
FORSYTHE-WAKELING SYNDROME | (OMIM:613606) |
Fabry disease | (Orphanet:324) |
Facial dysmorphism - immunodeficiency - livedo - short stature | (Orphanet:352712) |
Faisalabad histiocytosis | (Orphanet:254707) |
Fallot complex - intellectual deficit - growth delay | (Orphanet:3304) |
Familial benign copper deficiency | (Orphanet:1551) |
Familial clubfoot due to 17q23.1q23.2 microduplication | (Orphanet:238578) |
Familial isolated hypoparathyroidism | (Orphanet:2238) |
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland | (Orphanet:2239) |
Familial osteochondritis dissecans | (Orphanet:251262) |
Familial thyroid dyshormonogenesis | (Orphanet:95716) |
Fanconi anemia | (Orphanet:84) |
Fanconi renotubular syndrome 1 | (OMIM:134600) |
Farber lipogranulomatosis | (Orphanet:333) |
Feingold syndrome | (Orphanet:1305) |
Femoral-facial syndrome | (Orphanet:1988) |
Femur-fibula-ulna complex | (Orphanet:2019) |
Fetal alcohol syndrome | (Orphanet:1915) |
Fetal hydantoin syndrome | (Orphanet:1912) |
Fetal methylmercury syndrome | (Orphanet:1917) |
Fibrochondrogenesis | (Orphanet:2021) |
Fibular aplasia - complex brachydactyly | (Orphanet:2639) |
Filippi syndrome | (Orphanet:3255) |
Fine-Lubinsky syndrome | (Orphanet:1272) |
Floating-Harbor syndrome | (Orphanet:2044) |
Focal dermal hypoplasia | (Orphanet:2092) |
Fountain syndrome | (Orphanet:3219) |
Freeman-Sheldon syndrome | (Orphanet:2053) |
Fronto-facio-nasal dysostosis | (Orphanet:1791) |
Frontonasal dysplasia | (Orphanet:250) |
Fryns-Smeets-Thiry syndrome | (Orphanet:2058) |
Fucosidosis | (Orphanet:349) |
Fuhrmann syndrome | (Orphanet:2854) |
GAPO syndrome | (Orphanet:2067) |
GELEOPHYSIC DYSPLASIA 1 | (OMIM:231050) |
GELEOPHYSIC DYSPLASIA 2 | (OMIM:614185) |
GM1 gangliosidosis | (Orphanet:354) |
GM1 gangliosidosis type 3 | (Orphanet:79257) |
GMS syndrome | (Orphanet:2090) |
GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGEJOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLARATROPHY | (OMIM:608278) |
GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | (OMIM:615925) |
Galactosialidosis | (Orphanet:351) |
Galloway-Mowat syndrome | (Orphanet:2065) |
Gaucher disease | (Orphanet:355) |
Gaucher disease - ophthalmoplegia - cardiovascular calcification | (Orphanet:2072) |
Gaucher disease type 3 | (Orphanet:77261) |
Geleophysic dysplasia | (Orphanet:2623) |
Gemignani syndrome | (Orphanet:2074) |
Generalized arterial calcification of infancy | (Orphanet:51608) |
Generalized peeling skin syndrome | (Orphanet:263543) |
Genitopatellar syndrome | (Orphanet:85201) |
German syndrome | (Orphanet:2077) |
Geroderma osteodysplastica | (Orphanet:2078) |
Glaucoma - ectopia - microspherophakia - stiff joints - short stature | (Orphanet:2084) |
Glycogen storage disease due to aldolase A deficiency | (Orphanet:57) |
Glycogen storage disease due to glucose-6-phosphatase deficiency | (Orphanet:364) |
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 debranching enzyme deficiency | (Orphanet:366) |
Glycogen storage disease due to hepatic glycogen synthase deficiency | (Orphanet:2089) |
Glycogen storage disease due to liver glycogen phosphorylase deficiency | (Orphanet:369) |
Glycogen storage disease due to phosphorylase kinase deficiency | (Orphanet:370) |
Goldberg-Shprintzen megacolon syndrome | (Orphanet:66629) |
Goldblatt syndrome | (Orphanet:166272) |
Goldenhar syndrome | (Orphanet:374) |
Gonadal dysgenesis, XY type - associated anomalies | (Orphanet:1770) |
Gordon syndrome | (Orphanet:376) |
Gorlin-Chaudhry-Moss syndrome | (Orphanet:2095) |
Grant syndrome | (Orphanet:2097) |
Greenberg dysplasia | (Orphanet:1426) |
Griscelli disease | (Orphanet:381) |
Grix-Blankenship-Peterson syndrome | (Orphanet:2099) |
Growth deficiency - brachydactyly - dysmorphism | (Orphanet:2055) |
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) |
Gómez-López-Hernández syndrome | (Orphanet:1532) |
H syndrome | (Orphanet:168569) |
HAJDU-CHENEY SYNDROME | (OMIM:102500) |
HELSMOORTEL-VAN DER AA SYNDROME | (OMIM:615873) |
HOLOPROSENCEPHALY 9 | (OMIM:610829) |
HUNTER-MACDONALD SYNDROME | (OMIM:611962) |
HUTTERITE CEREBROOSTEONEPHRODYSPLASIA SYNDROME | (OMIM:236450) |
HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA | (OMIM:147950) |
HYPOPHOSPHATEMIC BONE DISEASE | (OMIM:146350) |
HYPOPHOSPHATEMIC RICKETS AND HYPERPARATHYROIDISM | (OMIM:612089) |
HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE | (OMIM:300554) |
Haddad syndrome | (Orphanet:99803) |
Hall-Riggs syndrome | (Orphanet:2107) |
Hallermann-Streiff syndrome | (Orphanet:2108) |
Hamel cerebro-palato-cardiac syndrome | (Orphanet:93946) |
Hartnup syndrome | (Orphanet:2116) |
Heart defect - round face - congenital developmental delay | (Orphanet:1355) |
Heart defects - limb shortening | (Orphanet:1354) |
Hemimelia | (Orphanet:2130) |
Hemochromatosis, type 2A | (OMIM:602390) |
Hennekam-Beemer syndrome | (Orphanet:2135) |
Hepatic fibrosis - renal cysts - intellectual deficit | (Orphanet:2031) |
Hereditary acrokeratotic poikiloderma, Weary type | (Orphanet:2907) |
Hereditary hypophosphatemic rickets with hypercalciuria | (Orphanet:157215) |
Hidrotic ectodermal dysplasia | (Orphanet:189) |
Hirschsprung disease | (Orphanet:388) |
Holmes-Gang syndrome | (Orphanet:93970) |
Holoprosencephaly - craniosynostosis | (Orphanet:2163) |
Hoyeraal-Hreidarsson syndrome | (Orphanet:3322) |
Hunter-McAlpine craniosynostosis | (Orphanet:97340) |
Hurler syndrome | (Orphanet:93473) |
Hurler-Scheie syndrome | (Orphanet:93476) |
Hutchinson-Gilford progeria syndrome | (Orphanet:740) |
Hyaluronidase deficiency | (Orphanet:67041) |
Hydrocephalus - blue sclerae - nephropathy | (Orphanet:2186) |
Hydrocephalus - obesity - hypogonadism | (Orphanet:2183) |
Hyperlysinemia, type I | (OMIM:238700) |
Hypertelorism - hypospadias - polysyndactyly syndrome | (Orphanet:2211) |
Hypertelorism-microtia-facial clefting syndrome | (Orphanet:2213) |
Hypertrichosis | (Orphanet:79365) |
Hypertrichosis cubiti - short stature | (Orphanet:2220) |
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation | (Orphanet:324525) |
Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual deficiency | (Orphanet:2435) |
Hypocalcemic vitamin D-resistant rickets | (Orphanet:93160) |
Hypochondroplasia | (Orphanet:429) |
Hypogonadism - mitral valve prolapse - intellectual deficit | (Orphanet:2233) |
Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia | (Orphanet:1882) |
Hypomyelination with atrophy of basal ganglia and cerebellum | (Orphanet:139441) |
Hypophosphatasia | (Orphanet:436) |
Hypophosphatemic rickets | (Orphanet:437) |
Hypophosphatemic rickets, autosomal recessive, 2 | (OMIM:613312) |
Hypoplastic tibiae - postaxial polydactyly | (Orphanet:3332) |
Hypospadias - hypertelorism - coloboma and deafness | (Orphanet:157788) |
Hypothyroidism due to deficient transcription factors involved in pituitary development or function | (Orphanet:226307) |
Hypotrichosis with juvenile macular degeneration | (Orphanet:1573) |
ICF syndrome | (Orphanet:2268) |
ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS | (OMIM:242150) |
IMMUNODEFICIENCY 31C | (OMIM:614162) |
IVIC syndrome | (Orphanet:2307) |
Ichthyosis - intellectual deficit - dwarfism - renal impairment | (Orphanet:2278) |
Ichthyosis follicularis - alopecia - photophobia | (Orphanet:2273) |
Incontinentia pigmenti | (Orphanet:464) |
Infantile Refsum disease | (Orphanet:772) |
Infantile regressive hypertriglyceridemia and hepatosteatosis | (Orphanet:300293) |
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia | (Orphanet:284332) |
Iniencephaly | (Orphanet:63259) |
Intellectual deficit - cataracts - calcified pinnae - myopathy | (Orphanet:3042) |
Intellectual deficit - hypoplastic corpus callosum - preauricular tag | (Orphanet:1495) |
Intellectual deficit - hypotonia - skin hyperpigmentation | (Orphanet:3050) |
Intellectual deficit - microcephaly - phalangeal - facial abnormalities | (Orphanet:3067) |
Intellectual deficit - myopathy - short stature - endocrine defect | (Orphanet:3068) |
Intellectual deficit - polydactyly - uncombable hair | (Orphanet:3082) |
Intellectual deficit - sparse hair - brachydactyly | (Orphanet:3051) |
Intellectual deficit, Buenos-Aires type | (Orphanet:3079) |
Intellectual deficit, X-linked - craniofacioskeletal syndrome | (Orphanet:163979) |
Intellectual deficit, X-linked - cubitus valgus - dysmorphism | (Orphanet:85280) |
Intellectual deficit, X-linked - hypogonadism - ichthyosis - obesity - short stature | (Orphanet:85331) |
Intellectual deficit, X-linked - hypotonia - facial dysmorphism - aggressive behavior | (Orphanet:85329) |
Intellectual deficit, X-linked - short stature - obesity | (Orphanet:3055) |
Intellectual deficit, X-linked, Abidi type | (Orphanet:85273) |
Intellectual deficit, X-linked, Armfield type | (Orphanet:85276) |
Intellectual deficit, X-linked, Brooks type | (Orphanet:3056) |
Intellectual deficit, X-linked, Shrimpton type | (Orphanet:85324) |
Intellectual deficit, X-linked, Snyder type | (Orphanet:3063) |
Intellectual deficit, X-linked, Stocco Dos Santos type | (Orphanet:85288) |
Intellectual deficit, X-linked, Vitale type | (Orphanet:85289) |
Intellectual deficit, X-linked, Wittwer type | (Orphanet:85291) |
Intellectual disability-developmental delay-contractures syndrome | (Orphanet:3454) |
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | (Orphanet:363611) |
Isolated ATP synthase deficiency | (Orphanet:254913) |
Isolated agammaglobulinemia | (Orphanet:229717) |
Isolated anterior cervical hypertrichosis | (Orphanet:3387) |
Isolated glycerol kinase deficiency | (Orphanet:408) |
Isolated growth hormone deficiency type IB | (Orphanet:231671) |
Isolated growth hormone deficiency type III | (Orphanet:231692) |
Isolated osteopoikilosis | (Orphanet:166119) |
Isolated sedoheptulokinase deficiency | (ORPHA:440713) |
Isolated spina bifida | (Orphanet:823) |
Isolated succinate-CoQ reductase deficiency | (Orphanet:3208) |
Isolated thyrotropin-releasing hormone deficiency | (Orphanet:238670) |
JMP syndrome | (Orphanet:324999) |
Jacobsen syndrome | (Orphanet:2308) |
Jeune syndrome | (Orphanet:474) |
Johanson-Blizzard syndrome | (Orphanet:2315) |
Joubert syndrome with orofaciodigital defect | (Orphanet:2754) |
Juberg-Hayward syndrome | (Orphanet:2319) |
Juberg-Marsidi syndrome | (Orphanet:93972) |
Juvenile Paget disease | (Orphanet:2801) |
KABUKI SYNDROME 2 | (OMIM:300867) |
KBG syndrome | (Orphanet:2332) |
KID syndrome | (Orphanet:477) |
KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS | (OMIM:245160) |
Kabuki syndrome | (Orphanet:2322) |
Kallmann syndrome | (Orphanet:478) |
Kallmann syndrome - heart disease | (Orphanet:2326) |
Kearns-Sayre syndrome | (Orphanet:480) |
Keipert syndrome | (Orphanet:2662) |
Kenny-Caffey syndrome | (Orphanet:2333) |
Keratosis follicularis - dwarfism - cerebral atrophy | (Orphanet:2339) |
Keutel syndrome | (Orphanet:85202) |
Kleefstra syndrome | (Orphanet:261494) |
Kniest dysplasia | (Orphanet:485) |
Koolen-De Vries syndrome | (Orphanet:96169) |
Kostmann syndrome | (Orphanet:99749) |
Kyphomelic dysplasia | (Orphanet:1801) |
LEOPARD SYNDROME 1 | (OMIM:151100) |
LEOPARD SYNDROME 2 | (OMIM:611554) |
LEOPARD SYNDROME 3 | (OMIM:613707) |
LESCH-NYHAN SYNDROME | (OMIM:300322) |
LICHTENSTEIN-KNORR SYNDROME | (OMIM:616291) |
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 | (OMIM:612526) |
Lamellar ichthyosis | (Orphanet:313) |
Langer mesomelic dysplasia | (Orphanet:2632) |
Langer-Giedion syndrome | (Orphanet:502) |
Laron syndrome | (Orphanet:633) |
Larsen-like osseous dysplasia - short stature | (Orphanet:2370) |
Larsen-like syndrome, B3GAT3 type | (Orphanet:284139) |
Larynx atresia | (Orphanet:1202) |
Lateral meningocele syndrome | (Orphanet:2789) |
Laurence-Moon syndrome | (Orphanet:2377) |
Legg-Calvé-Perthes disease | (Orphanet:2380) |
Lenz-Majewski hyperostotic dwarfism | (Orphanet:2658) |
Leprechaunism | (Orphanet:508) |
Leri pleonosteosis | (Orphanet:2900) |
Lesch-Nyhan syndrome | (Orphanet:510) |
Lethal Kniest-like dysplasia | (Orphanet:2347) |
Lethal Larsen-like syndrome | (Orphanet:2371) |
Lethal chondrodysplasia, Moerman type | (Orphanet:1420) |
Lethal congenital contracture syndrome type 1 | (Orphanet:1486) |
Lethal osteosclerotic bone dysplasia | (Orphanet:1832) |
Lethal recessive chondrodysplasia | (Orphanet:1423) |
Leukocyte adhesion deficiency | (Orphanet:2968) |
Leukocyte adhesion deficiency type II | (Orphanet:99843) |
Leukoencephalopathy - ataxia - hypodontia - hypomyelination | (Orphanet:137639) |
Limb body wall complex | (Orphanet:2369) |
Limb transversal defect - cardiac anomaly | (Orphanet:2492) |
Linear nevus sebaceus syndrome | (Orphanet:2612) |
Lipodystrophy - intellectual deficit - deafness | (Orphanet:50811) |
Low birth weight - dwarfism - dysgammaglobulinemia | (Orphanet:2621) |
Lowry-MacLean syndrome | (Orphanet:2409) |
Lowry-Wood syndrome | (Orphanet:1824) |
Lysinuric protein intolerance | (Orphanet:470) |
Léri-Weill dyschondrosteosis | (Orphanet:240) |
MACROEPIPHYSEAL DYSPLASIA WITH OSTEOPOROSIS, WRINKLED SKIN, AND AGEDAPPEARANCE | (OMIM:248010) |
MACS syndrome | (Orphanet:217335) |
MASA syndrome | (Orphanet:2466) |
MEGAEPIPHYSEAL DWARFISM | (OMIM:249230) |
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 WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,AND SHORT STATURE | (OMIM:609037) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 | (OMIM:614562) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 | (OMIM:615834) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 | (OMIM:616311) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 | (OMIM:615541) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 | (OMIM:615817) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 | (OMIM:611091) |
MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,AND FACIAL DYSMORPHISM | (OMIM:606242) |
MENTAL RETARDATION, X-LINKED 92 | (OMIM:300851) |
MENTAL RETARDATION, X-LINKED 99 | (OMIM:300919) |
MERRF | (Orphanet:551) |
MESOAXIAL HEXADACTYLY AND CARDIAC MALFORMATION | (OMIM:249670) |
MGAT2-CDG | (Orphanet:79329) |
MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:615414) |
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:608716) |
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 | (OMIM:616171) |
MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE | (OMIM:612947) |
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM | (OMIM:616033) |
MICROHYDRANENCEPHALY | (OMIM:605013) |
MICROPHTHALMIA, SYNDROMIC 13 | (OMIM:300915) |
MICROPHTHALMIA, SYNDROMIC 7 | (OMIM:309801) |
MICROPHTHALMIA, SYNDROMIC 9 | (OMIM:601186) |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 | (OMIM:604273) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 | (OMIM:257300) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 | (OMIM:614114) |
MUCOLIPIDOSIS III ALPHA/BETA | (OMIM:252600) |
MUCOLIPIDOSIS III GAMMA | (OMIM:252605) |
MURCS association | (Orphanet:2578) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 6 | (OMIM:608840) |
MYELODYSPLASIA, IMMUNODEFICIENCY, FACIAL DYSMORPHISM, SHORT STATURE,AND PSYCHOMOTOR DELAY | (OMIM:601347) |
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, X-LINKED | (OMIM:300580) |
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT | (OMIM:616209) |
Macrocephaly - short stature - paraplegia | (Orphanet:2427) |
Madelung deformity | (Orphanet:35688) |
Maffucci syndrome | (Orphanet:163634) |
Male hypergonadotropic hypogonadism - intellectual deficit - skeletal anomalies | (Orphanet:2234) |
Malignant hyperthermia - arthrogryposis - torticollis | (Orphanet:2215) |
Malonic aciduria | (Orphanet:943) |
Mandibuloacral dysplasia | (Orphanet:2457) |
Mandibuloacral dysplasia with type A lipodystrophy | (Orphanet:90153) |
Mandibuloacral dysplasia with type B lipodystrophy | (Orphanet:90154) |
Mandibulofacial dysostosis-microcephaly syndrome | (Orphanet:79113) |
Marden-Walker syndrome | (Orphanet:2461) |
Marinesco-Sjögren syndrome | (Orphanet:559) |
Marshall syndrome | (Orphanet:560) |
Maternal hyperthermia induced birth defects | (Orphanet:2216) |
Matthew-Wood syndrome | (Orphanet:2470) |
McDonough syndrome | (Orphanet:2471) |
McKusick-Kaufman syndrome | (Orphanet:2473) |
McLeod neuroacanthocytosis syndrome | (Orphanet:59306) |
Megalocornea-intellectual deficit syndrome | (Orphanet:2479) |
Menkes disease | (Orphanet:565) |
Mesomelia-synostoses syndrome | (Orphanet:2496) |
Mesomelic dwarfism, Nievergelt type | (Orphanet:2633) |
Mesomelic dwarfism, Reinhardt-Pfeiffer type | (Orphanet:2634) |
Mesomelic dysplasia, Kantaputra type | (Orphanet:1836) |
Mesomelic dysplasia, Savarirayan type | (Orphanet:85170) |
Metaphyseal acroscyphodysplasia | (Orphanet:1240) |
Metaphyseal anadysplasia | (Orphanet:1040) |
Metaphyseal chondrodysplasia, Jansen type | (Orphanet:33067) |
Metaphyseal chondrodysplasia, Schmid type | (Orphanet:174) |
Metaphyseal chondrodysplasia, Spahr type | (Orphanet:2501) |
Metaphyseal dysostosis - intellectual deficit - conductive deafness | (Orphanet:2502) |
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty | (Orphanet:2504) |
Metatropic dysplasia | (Orphanet:2635) |
Methylmalonic acidemia with homocystinuria, type cblX | (Orphanet:369962) |
Mevalonic aciduria | (Orphanet:29) |
Micrencephaly - corpus callosum agenesis - abnormal genitalia | (Orphanet:2508) |
Micro syndrome | (Orphanet:2510) |
Microbrachycephaly - ptosis - cleft lip | (Orphanet:2511) |
Microcephalic osteodysplastic dysplasia, Saul-Wilson type | (Orphanet:85172) |
Microcephalic osteodysplastic primordial dwarfism type 2 | (Orphanet:2637) |
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 | (Orphanet:2636) |
Microcephalic primordial dwarfism, Alazami type | (Orphanet:319671) |
Microcephalic primordial dwarfism, Toriello type | (Orphanet:2643) |
Microcephaly - brachydactyly - kyphoscoliosis | (Orphanet:3433) |
Microcephaly - cervical spine fusion anomalies | (Orphanet:2522) |
Microcephaly - deafness - intellectual deficit | (Orphanet:2533) |
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type | (Orphanet:217026) |
Microcephaly - intellectual deficit - phalangeal and neurological anomalies | (Orphanet:137658) |
Microcephaly - lymphedema - chorioretinopathy | (Orphanet:2526) |
Microcephaly-capillary malformation syndrome | (Orphanet:294016) |
Microcephaly-cardiomyopathy syndrome | (Orphanet:2515) |
Microcephaly-microcornea syndrome, Seemanova type | (Orphanet:2528) |
Microform holoprosencephaly | (Orphanet:280200) |
Microlissencephaly | (Orphanet:1083) |
Microphthalmia with linear skin defects syndrome | (Orphanet:2556) |
Microphthalmia, Lenz type | (Orphanet:568) |
Microspherophakia - metaphyseal dysplasia | (Orphanet:2551) |
Mietens syndrome | (Orphanet:2557) |
Mikati-Najjar-Sahli syndrome | (Orphanet:2558) |
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis | (Orphanet:93279) |
Mirror polydactyly - vertebral segmentation - limbs defects | (Orphanet:3004) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | (Orphanet:1933) |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | (Orphanet:1194) |
Mitochondrial myopathy - lactic acidosis - deafness | (Orphanet:2597) |
Mononen-Karnes-Senac syndrome | (Orphanet:2565) |
Monosomy 13q14 | (Orphanet:1587) |
Monosomy 18p | (Orphanet:1598) |
Monosomy 18q | (Orphanet:1600) |
Monosomy 5p | (Orphanet:281) |
Mosaic trisomy 14 | (Orphanet:1703) |
Mosaic trisomy 8 | (Orphanet:96061) |
Mosaic variegated aneuploidy syndrome | (Orphanet:1052) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism | (Orphanet:280679) |
Moynahan syndrome | (Orphanet:2574) |
Muckle-Wells syndrome | (Orphanet:575) |
Mucolipidosis type 2 | (Orphanet:576) |
Mucolipidosis type 3 | (Orphanet:577) |
Mucopolysaccharidosis type 1 | (Orphanet:579) |
Mucopolysaccharidosis type 2 | (Orphanet:580) |
Mucopolysaccharidosis type 2, attenuated form | (Orphanet:217093) |
Mucopolysaccharidosis type 2, severe form | (Orphanet:217085) |
Mucopolysaccharidosis type 4 | (Orphanet:582) |
Mucopolysaccharidosis type 6 | (Orphanet:583) |
Mucopolysaccharidosis type 7 | (Orphanet:584) |
Mulibrey nanism | (Orphanet:2576) |
Mullerian duct anomalies - limb anomalies | (Orphanet:2491) |
Multiple benign circumferential skin creases on limbs | (Orphanet:2505) |
Multiple epiphyseal dysplasia | (Orphanet:251) |
Multiple epiphyseal dysplasia due to collagen 9 anomaly | (Orphanet:166002) |
Multiple epiphyseal dysplasia type 1 | (Orphanet:93308) |
Multiple epiphyseal dysplasia type 4 | (Orphanet:93307) |
Multiple epiphyseal dysplasia type 5 | (Orphanet:93311) |
Multiple epiphyseal dysplasia, Beighton type | (Orphanet:166011) |
Multiple epiphyseal dysplasia, Lowry type | (Orphanet:166016) |
Multiple epiphyseal dysplasia, with miniepiphyses | (Orphanet:166032) |
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia | (Orphanet:166029) |
Multiple osteochondromas | (Orphanet:321) |
Multiple sulfatase deficiency | (Orphanet:585) |
Muscular pseudohypertrophy - hypothyroidism | (Orphanet:2349) |
Myhre syndrome | (Orphanet:2588) |
Myopathy - growth delay - intellectual deficit - hypospadias | (Orphanet:2601) |
Myosclerosis | (Orphanet:289380) |
Myotonia permanens | (Orphanet:99735) |
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET | (OMIM:616263) |
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC | (OMIM:614213) |
NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE | (OMIM:616022) |
NOONAN SYNDROME 1 | (OMIM:163950) |
NOONAN SYNDROME 3 | (OMIM:609942) |
NOONAN SYNDROME 4 | (OMIM:610733) |
NOONAN SYNDROME 5 | (OMIM:611553) |
NOONAN SYNDROME 6 | (OMIM:613224) |
NOONAN SYNDROME 7 | (OMIM:613706) |
NOONAN SYNDROME 8 | (OMIM:615355) |
Nager syndrome | (Orphanet:245) |
Nail-patella syndrome | (Orphanet:2614) |
Nail-patella-like renal disease | (Orphanet:2613) |
Nakajo-Nishimura syndrome | (Orphanet:2615) |
Nathalie syndrome | (Orphanet:2663) |
Native American myopathy | (Orphanet:168572) |
Navajo neurohepatopathy | (Orphanet:255229) |
Neonatal adrenoleukodystrophy | (Orphanet:44) |
Neonatal severe primary hyperparathyroidism | (Orphanet:417) |
Nephrogenic diabetes insipidus | (Orphanet:223) |
Nephrogenic diabetes insipidus - intracranial calcification | (Orphanet:3145) |
Nephronophthisis 1 | (OMIM:256100) |
Nephronophthisis 2 | (OMIM:602088) |
Nestor-Guillermo progeria syndrome | (Orphanet:280576) |
Netherton syndrome | (Orphanet:634) |
Neuralgic amyotrophy | (Orphanet:2901) |
Neuroectodermal syndrome, Johnson type | (Orphanet:2316) |
Neuroectodermal-endocrine syndrome | (Orphanet:2676) |
Neurofaciodigitorenal syndrome | (Orphanet:2673) |
Neurofibromatosis - Noonan syndrome | (Orphanet:638) |
Neurofibromatosis type 1 | (Orphanet:636) |
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion | (Orphanet:363700) |
Neutral lipid storage disease | (Orphanet:165) |
Neutral lipid storage myopathy | (Orphanet:98908) |
Niemann-Pick disease type A | (Orphanet:77292) |
Niemann-Pick disease type B | (Orphanet:77293) |
Niemann-Pick disease type E | (Orphanet:99022) |
Nijmegen breakage syndrome | (Orphanet:647) |
Nijmegen breakage syndrome-like disorder | (Orphanet:240760) |
Non-acquired isolated growth hormone deficiency | (Orphanet:631) |
Non-distal trisomy 10q | (Orphanet:1695) |
Non-rhizomelic chondrodysplasia punctata | (Orphanet:176) |
Nonacquired combined pituitary hormone deficiency with spine abnormalities | (Orphanet:231720) |
Noonan syndrome | (Orphanet:648) |
Noonan syndrome with multiple lentigines | (Orphanet:500) |
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | (Orphanet:363972) |
Noonan syndrome-like disorder with loose anagen hair | (Orphanet:2701) |
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE | (OMIM:257850) |
OPITZ-KAVEGGIA SYNDROME | (OMIM:305450) |
OROFACIODIGITAL SYNDROME VI | (OMIM:277170) |
OSLAM syndrome | (Orphanet:2760) |
OSTEOGENESIS IMPERFECTA, TYPE V | (OMIM:610967) |
OSTEOGENESIS IMPERFECTA, TYPE VII | (OMIM:610682) |
OSTEOGENESIS IMPERFECTA, TYPE X | (OMIM:613848) |
OSTEOGENESIS IMPERFECTA, TYPE XI | (OMIM:610968) |
OSTEOGENESIS IMPERFECTA, TYPE XII | (OMIM:613849) |
OSTEOGENESIS IMPERFECTA, TYPE XIII | (OMIM:614856) |
OSTEOGENESIS IMPERFECTA, TYPE XV | (OMIM:615220) |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 | (OMIM:259730) |
OTOFACIOOSSEOUS-GONADAL SYNDROME | (OMIM:601976) |
OVARIAN DYSGENESIS 4 | (OMIM:616185) |
Oculo-palato-cerebral syndrome | (Orphanet:2714) |
Oculo-reno-cerebellar syndrome | (Orphanet:2715) |
Oculo-skeletal-renal syndrome | (Orphanet:2716) |
Oculoauriculovertebral spectrum with radial defects | (Orphanet:2549) |
Oculocerebral hypopigmentation syndrome, Cross type | (Orphanet:2719) |
Oculocerebral hypopigmentation syndrome, Preus type | (Orphanet:2720) |
Oculocerebrorenal syndrome | (Orphanet:534) |
Oculofaciocardiodental syndrome | (Orphanet:2712) |
Oculomaxillofacial dysostosis | (Orphanet:1794) |
Oculoosteocutaneous syndrome | (Orphanet:2713) |
Oculotrichodysplasia | (Orphanet:2718) |
Omodysplasia | (Orphanet:2733) |
Omphalocele syndrome, Shprintzen-Goldberg type | (Orphanet:3164) |
Opsismodysplasia | (Orphanet:2746) |
Orofaciodigital syndrome type 1 | (Orphanet:2750) |
Orofaciodigital syndrome type 2 | (Orphanet:2751) |
Orofaciodigital syndrome type 4 | (Orphanet:2753) |
Orofaciodigital syndrome type 8 | (Orphanet:2755) |
Orofaciodigital syndrome type 9 | (Orphanet:141007) |
Osteochondrodysplatic nanism - deafness - retinitis pigmentosa | (Orphanet:2653) |
Osteocraniostenosis | (Orphanet:2763) |
Osteodysplasty, Melnick-Needles type | (Orphanet:2484) |
Osteogenesis imperfecta | (Orphanet:666) |
Osteogenesis imperfecta type 4 | (Orphanet:216820) |
Osteogenesis imperfecta type 5 | (Orphanet:216828) |
Osteoglophonic dwarfism | (Orphanet:2645) |
Osteopathia striata - cranial sclerosis | (Orphanet:2780) |
Osteopetrosis with renal tubular acidosis | (Orphanet:2785) |
Osteoporosis - pseudoglioma | (Orphanet:2788) |
Otofaciocervical syndrome | (Orphanet:2792) |
Otopalatodigital syndrome | (Orphanet:669) |
Otopalatodigital syndrome type 1 | (Orphanet:90650) |
Otopalatodigital syndrome type 2 | (Orphanet:90652) |
Otospondylomegaepiphyseal dysplasia | (Orphanet:1427) |
Oxoglutaricaciduria | (Orphanet:31) |
PAGOD syndrome | (Orphanet:991) |
PALANT CLEFT PALATE SYNDROME | (OMIM:260150) |
PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS | (OMIM:600399) |
PELIZAEUS-MERZBACHER DISEASE | (OMIM:312080) |
PGM1-CDG | (Orphanet:319646) |
PITUITARY HORMONE DEFICIENCY, COMBINED, 1 | (OMIM:613038) |
PITUITARY HORMONE DEFICIENCY, COMBINED, 2 | (OMIM:262600) |
PITUITARY HORMONE DEFICIENCY, COMBINED, 6 | (OMIM:613986) |
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY | (OMIM:602342) |
POLYENDOCRINE-POLYNEUROPATHY SYNDROME | (OMIM:616113) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 2E | (OMIM:615851) |
PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS | (OMIM:308990) |
PYGMY | (OMIM:265850) |
Pallister-Hall syndrome | (Orphanet:672) |
Panhypopituitarism | (Orphanet:90695) |
Parana hard-skin syndrome | (Orphanet:2812) |
Paraplegia - brachydactyly - cone-shaped epiphysis | (Orphanet:2823) |
Parastremmatic dwarfism | (Orphanet:2646) |
Pectus excavatum - macrocephaly - dysplastic nails | (Orphanet:2835) |
Peeling skin syndrome type B | (Orphanet:263553) |
Pelizaeus-Merzbacher disease | (Orphanet:702) |
Pellagra-like skin rash-neurological manifestations | (Orphanet:2837) |
Pelvis-shoulder dysplasia | (Orphanet:2839) |
Pentasomy X | (Orphanet:11) |
Perinatal lethal hypophosphatasia | (Orphanet:247623) |
Peripheral dysostosis | (Orphanet:1795) |
Permanent congenital hypothyroidism | (Orphanet:226292) |
Perrault Syndrome | (Orphanet:2855) |
Perrault Syndrome 3 | (OMIM:614129) |
Peters-plus syndrome | (Orphanet:709) |
Pfeiffer syndrome | (Orphanet:710) |
Pfeiffer-Palm-Teller syndrome | (Orphanet:2871) |
Phocomelia - ectrodactyly - deafness - sinus arrhythmia | (Orphanet:2878) |
Phocomelia, Schinzel type | (Orphanet:2879) |
Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome | (Orphanet:254723) |
Pilotto syndrome | (Orphanet:2894) |
Pituitary stalk interruption syndrome | (Orphanet:95496) |
Platyspondylic dysplasia, Torrance type | (Orphanet:85166) |
Poikiloderma with neutropenia | (Orphanet:221046) |
Polyneuropathy - intellectual deficit - acromicria - premature menopause | (Orphanet:2928) |
Polyvalvular heart disease syndrome | (Orphanet:228410) |
Pontocerebellar hypoplasia type 3 | (Orphanet:97249) |
Postaxial polydactyly - dental and vertebral anomalies | (Orphanet:2916) |
Prader-Willi syndrome | (Orphanet:739) |
Preaxial polydactyly - colobomata - intellectual deficit | (Orphanet:2921) |
Premature chromosome condensation with microcephaly and intellectual deficit | (Orphanet:52183) |
Primary Fanconi syndrome | (Orphanet:3337) |
Primary congenital hypothyroidism | (Orphanet:226295) |
Primary hyperoxaluria | (Orphanet:416) |
Primary immunodeficiency syndrome due to p14 deficiency | (Orphanet:90023) |
Primary pigmented nodular adrenocortical disease | (Orphanet:189439) |
Progeria - short stature - pigmented nevi | (Orphanet:2959) |
Progeroid syndrome, Petty type | (Orphanet:2963) |
Progressive familial intrahepatic cholestasis | (Orphanet:172) |
Progressive familial intrahepatic cholestasis type 1 | (Orphanet:79306) |
Progressive familial intrahepatic cholestasis type 2 | (Orphanet:79304) |
Progressive pseudorheumatoid arthropathy of childhood | (Orphanet:1159) |
Propionic acidemia | (Orphanet:35) |
Proteasome disability syndrome | (Orphanet:324977) |
Proximal renal tubular acidosis | (Orphanet:47159) |
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia | (Orphanet:3390) |
Pseudoachondroplasia | (Orphanet:750) |
Pseudoaminopterin syndrome | (Orphanet:221120) |
Pseudohypoaldosteronism type 2 | (Orphanet:757) |
Pseudohypoparathyroidism type 1A | (Orphanet:79443) |
Pseudohypoparathyroidism type 1C | (Orphanet:79444) |
Pseudoprogeria syndrome | (Orphanet:2985) |
Pseudopseudohypoparathyroidism | (Orphanet:79445) |
Ptosis - vocal cord paralysis | (Orphanet:2997) |
Pycnodysostosis | (Orphanet:763) |
Pyknoachondrogenesis | (Orphanet:3003) |
RAPADILINO syndrome | (Orphanet:3021) |
RAPP-HODGKIN SYNDROME | (OMIM:129400) |
RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME | (OMIM:616108) |
RFT1-CDG | (Orphanet:244310) |
RIDDLE SYNDROME | (OMIM:611943) |
RIENHOFF SYNDROME | (OMIM:615582) |
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 | (OMIM:616331) |
RUIJS-AALFS SYNDROME | (OMIM:616200) |
Rabson-Mendenhall syndrome | (Orphanet:769) |
Radio-renal syndrome | (Orphanet:3015) |
Ramon syndrome | (Orphanet:3019) |
Renier-Gabreels-Jasper syndrome | (Orphanet:93975) |
Renpenning syndrome | (Orphanet:3242) |
Retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications | (Orphanet:3018) |
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism | (Orphanet:3085) |
Rett syndrome | (Orphanet:778) |
Rhizomelic chondrodysplasia punctata | (Orphanet:177) |
Rhizomelic syndrome, Urbach type | (Orphanet:3098) |
Richieri Costa-Pereira syndrome | (Orphanet:3102) |
Richieri Costa-da Silva syndrome | (Orphanet:3101) |
Rigid spine syndrome | (Orphanet:97244) |
Ring chromosome 6 | (Orphanet:1448) |
Roberts syndrome | (Orphanet:3103) |
Robinow-like syndrome | (Orphanet:3105) |
Rombo syndrome | (Orphanet:3110) |
Rosaï-Dorfman disease | (Orphanet:158014) |
Rothmund-Thomson syndrome | (Orphanet:2909) |
Rothmund-Thomson syndrome type 1 | (Orphanet:221008) |
Rubinstein-Taybi syndrome | (Orphanet:783) |
Rubinstein-Taybi syndrome due to CREBBP mutations | (Orphanet:353277) |
Ruvalcaba syndrome | (Orphanet:3121) |
SANTOS SYNDROME | (OMIM:613005) |
SATOYOSHI SYNDROME | (OMIM:600705) |
SC PHOCOMELIA SYNDROME | (OMIM:269000) |
SCHAAF-YANG SYNDROME | (OMIM:615547) |
SCHIZOPHRENIA 1 | (OMIM:181510) |
SECKEL SYNDROME 4 | (OMIM:613676) |
SECKEL SYNDROME 6 | (OMIM:614728) |
SECKEL SYNDROME 8 | (OMIM:615807) |
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, ANDSKELETAL ABNORMALITIES | (OMIM:602471) |
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY | (OMIM:614800) |
SHORT STATURE-OBESITY SYNDROME | (OMIM:269870) |
SHORT syndrome | (Orphanet:3163) |
SINGLETON-MERTEN SYNDROME 2 | (OMIM:616298) |
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION | (OMIM:612447) |
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL | (OMIM:602613) |
SKELETAL DYSPLASIA WITH DELAYED EPIPHYSEAL AND CARPAL BONE OSSIFICATION | (OMIM:182255) |
SMITH-MCCORT DYSPLASIA 2 | (OMIM:615222) |
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE | (OMIM:614066) |
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE | (OMIM:613744) |
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE | (OMIM:614067) |
SPINAL DYSPLASIA, ANHALT TYPE | (OMIM:601344) |
SPONASTRIME dysplasia | (Orphanet:93357) |
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE | (OMIM:613686) |
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION | (OMIM:607944) |
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL RECESSIVE | (OMIM:271600) |
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED | (OMIM:313400) |
SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE | (OMIM:613320) |
STEEL SYNDROME | (OMIM:615155) |
Saccharopinuria | (Orphanet:3124) |
Saethre-Chotzen syndrome | (Orphanet:794) |
Sakati-Nyhan syndrome | (Orphanet:3128) |
Saldino-Mainzer syndrome | (Orphanet:140969) |
Sanjad-Sakati syndrome | (Orphanet:2323) |
Satoyoshi syndrome | (Orphanet:3130) |
Say-Barber-Miller syndrome | (Orphanet:3132) |
Say-Field-Coldwell syndrome | (Orphanet:3133) |
Scheie syndrome | (Orphanet:93474) |
Schilbach-Rott syndrome | (Orphanet:2353) |
Schimke immuno-osseous dysplasia | (Orphanet:1830) |
Schneckenbecken dysplasia | (Orphanet:3144) |
Schwartz-Jampel syndrome | (Orphanet:800) |
Seckel syndrome | (Orphanet:808) |
Senior-Loken syndrome | (Orphanet:3156) |
Senior-Loken syndrome 5 | (OMIM:609254) |
Septo-optic dysplasia | (Orphanet:3157) |
Sheldon-Hall syndrome | (Orphanet:1147) |
Short stature - craniofacial anomalies - genital hypoplasia | (Orphanet:2994) |
Short stature - deafness - neutrophil dysfunction - dysmorphism | (Orphanet:2866) |
Short stature - heart defect - craniofacial anomalies | (Orphanet:1088) |
Short stature - intellectual deficit - eye anomalies - cleft lip/palate | (Orphanet:2649) |
Short stature - pituitary and cerebellar defects - small sella turcica | (Orphanet:85442) |
Short stature - valvular heart disease - characteristic facies | (Orphanet:2868) |
Short stature - webbed neck - heart disease | (Orphanet:2865) |
Short stature - wormian bones - dextrocardia | (Orphanet:2863) |
Short stature due to GHSR deficiency | (Orphanet:314811) |
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia | (Orphanet:632) |
Short stature due to partial GHR deficiency | (Orphanet:314802) |
Short stature, Brussels type | (Orphanet:2867) |
Short-limb skeletal dysplasia with severe combined immunodeficiency | (Orphanet:935) |
Short-rib thoracic dysplasia 1 with or without polydactyly | (OMIM:208500) |
Short-rib thoracic dysplasia 10 with or without polydactyly | (OMIM:615630) |
Short-rib thoracic dysplasia 3 with or without polydactyly | (OMIM:613091) |
Short-rib thoracic dysplasia 4 with or without polydactyly | (OMIM:613819) |
Short-rib thoracic dysplasia 5 with or without polydactyly | (OMIM:614376) |
Short-rib thoracic dysplasia 8 with or without polydactyly | (OMIM:615503) |
Shoulder and girdle defects - familial intellectual deficit | (Orphanet:2580) |
Shox-related short stature | (Orphanet:314795) |
Shwachman-Diamond syndrome | (Orphanet:811) |
Sialidosis type 1 | (Orphanet:812) |
Sialidosis type 2 | (Orphanet:87876) |
Silver-Russell syndrome | (Orphanet:813) |
Singleton-Merten dysplasia | (Orphanet:85191) |
Sjögren-Larsson syndrome | (Orphanet:816) |
Skeletal dysplasia - epilepsy - short stature | (Orphanet:1858) |
Skeletal dysplasia - intellectual deficit | (Orphanet:1436) |
Smith-Fineman-Myers syndrome | (Orphanet:93974) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Smith-Magenis syndrome | (Orphanet:819) |
Solitary median maxillary central incisor syndrome | (Orphanet:2286) |
Sparse hair - short stature - skin anomalies | (Orphanet:79132) |
Spastic paraparesis - deafness | (Orphanet:2815) |
Spastic paraplegia - nephritis - deafness | (Orphanet:2820) |
Spastic paraplegia 63, autosomal recessive | (OMIM:615686) |
Spinocerebellar ataxia - dysmorphism | (Orphanet:1185) |
Spondylo-ocular syndrome | (Orphanet:85194) |
Spondyloenchondrodysplasia | (Orphanet:1855) |
Spondyloepimetaphyseal dysplasia congenita, Strudwick type | (Orphanet:93346) |
Spondyloepimetaphyseal dysplasia with joint laxity | (Orphanet:93359) |
Spondyloepimetaphyseal dysplasia with multiple dislocations | (Orphanet:93360) |
Spondyloepimetaphyseal dysplasia, Bieganski type | (Orphanet:168448) |
Spondyloepimetaphyseal dysplasia, Missouri type | (Orphanet:93356) |
Spondyloepimetaphyseal dysplasia, Pakistani type | (Orphanet:93282) |
Spondyloepimetaphyseal dysplasia, Shohat type | (Orphanet:93352) |
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia | (Orphanet:253) |
Spondyloepiphyseal dysplasia congenita | (Orphanet:94068) |
Spondyloepiphyseal dysplasia tarda | (Orphanet:93284) |
Spondyloepiphyseal dysplasia, Kimberley type | (Orphanet:93283) |
Spondyloepiphyseal dysplasia, MacDermot type | (Orphanet:163668) |
Spondyloepiphyseal dysplasia, Reardon type | (Orphanet:163662) |
Spondylometaphyseal dysplasia | (Orphanet:254) |
Spondylometaphyseal dysplasia - cone-rod dystrophy | (Orphanet:85167) |
Spondylometaphyseal dysplasia, 'corner fracture' type | (Orphanet:93315) |
Spondylometaphyseal dysplasia, A4 type | (Orphanet:168555) |
Spondylometaphyseal dysplasia, Kozlowski type | (Orphanet:93314) |
Spondylometaphyseal dysplasia, Schmidt type | (Orphanet:93316) |
Spondylometaphyseal dysplasia, Sedaghatian type | (Orphanet:93317) |
Spondyloperipheral dysplasia - short ulna | (Orphanet:1856) |
Stern-Lubinsky-Durrie syndrome | (Orphanet:3194) |
Stickler syndrome | (Orphanet:828) |
Stiff skin syndrome | (Orphanet:2833) |
Stimmler syndrome | (Orphanet:3199) |
Stoll-Alembik-Finck syndrome | (Orphanet:3200) |
Stormorken-Sjaastad-Langslet syndrome | (Orphanet:3204) |
Stüve-Wiedemann syndrome | (Orphanet:3206) |
Suarez-Stickler syndrome | (Orphanet:166277) |
Subaortic stenosis - short stature | (Orphanet:3191) |
Symptomatic form of Coffin-Lowry syndrome in female carriers | (Orphanet:276630) |
Syndactyly - telecanthus - anogenital and renal malformations | (Orphanet:140952) |
Syndrome with brachydactyly | (Orphanet:69028) |
Syndromic X-linked ichthyosis | (Orphanet:281090) |
Syndromic X-linked intellectual deficit 7 | (Orphanet:85274) |
Syndromic X-linked intellectual deficit due to JARID1C mutation | (Orphanet:85279) |
Syndromic diarrhea | (Orphanet:84064) |
Syndromic microphthalmia type 5 | (Orphanet:178364) |
Syngnathia multiple anomalies | (Orphanet:3262) |
Synostosis - microcephaly - scoliosis | (Orphanet:3268) |
THAI SYMPHALANGISM SYNDROME | (OMIM:608028) |
THORACOPELVIC DYSOSTOSIS | (OMIM:187770) |
THREE M SYNDROME 1 | (OMIM:273750) |
THREE M SYNDROME 2 | (OMIM:612921) |
THREE M SYNDROME 3 | (OMIM:614205) |
TMCO1 defect syndrome | (Orphanet:228407) |
TMEM165-CDG | (Orphanet:314667) |
TOOTH AGENESIS, SELECTIVE, 6 | (OMIM:613097) |
TRICHORHINOPHALANGEAL SYNDROME, TYPE I | (OMIM:190350) |
TRICHORHINOPHALANGEAL SYNDROME, TYPE III | (OMIM:190351) |
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE | (OMIM:601675) |
Tarsal-carpal coalition syndrome | (Orphanet:1412) |
Tel Hashomer camptodactyly syndrome | (Orphanet:3292) |
Tetrasomy 12p | (Orphanet:884) |
Thalidomide embryopathy | (Orphanet:3312) |
Thanatophoric dysplasia | (Orphanet:2655) |
Thanatophoric dysplasia type 1 | (Orphanet:1860) |
Thanatophoric dysplasia type 2 | (Orphanet:93274) |
Thiamine-responsive megaloblastic anemia syndrome | (Orphanet:49827) |
Thoracic dysplasia-hydrocephalus syndrome | (Orphanet:1861) |
Thoracomelic dysplasia | (Orphanet:1803) |
Thrombocytopenia - Robin sequence | (Orphanet:3323) |
Thrombocytopenia - absent radius | (Orphanet:3320) |
Thumb deformity - alopecia - pigmentation anomaly | (Orphanet:2251) |
Thyroid ectopia | (Orphanet:95712) |
Thyroid hypoplasia | (Orphanet:95720) |
Toluene embryopathy | (Orphanet:1920) |
Torg-Winchester syndrome | (Orphanet:3460) |
Toriello-Carey syndrome | (Orphanet:3338) |
Townes-Brocks syndrome | (Orphanet:857) |
Transketolase deficiency | (ORPHA:488618) |
Tricho-oculo-dermo-vertebral syndrome | (Orphanet:3354) |
Trichomegaly - retina pigmentary degeneration - dwarfism | (Orphanet:3363) |
Trichorhinophalangeal syndrome type 1 and 3 | (Orphanet:77258) |
Trigonocephaly - short stature - developmental delay | (Orphanet:3369) |
Triple A syndrome | (Orphanet:869) |
Trismus - pseudocamptodactyly | (Orphanet:3377) |
Trisomy 12p | (Orphanet:1699) |
Trisomy 17p | (Orphanet:261290) |
Trisomy 18 | (Orphanet:3380) |
Trisomy 4p | (Orphanet:1738) |
Trisomy 5p | (Orphanet:1742) |
Trisomy Xq28 | (Orphanet:1762) |
Turner syndrome | (Orphanet:881) |
Ulbright-Hodes syndrome | (Orphanet:3404) |
Ulna hypoplasia - intellectual deficit | (Orphanet:2249) |
Ulna metaphyseal dysplasia syndrome | (Orphanet:1837) |
Ulnar-mammary syndrome | (Orphanet:3138) |
Ulnar/fibula ray defect - brachydactyly | (Orphanet:52056) |
Urban-Rogers-Meyer syndrome | (Orphanet:3409) |
Urocanic aciduria | (Orphanet:210128) |
VELOCARDIOFACIAL SYNDROME | (OMIM:192430) |
VERHEIJ SYNDROME | (OMIM:615583) |
Van den Bosch syndrome | (Orphanet:3417) |
Velo-facial-skeletal syndrome | (Orphanet:3424) |
Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence | (Orphanet:3201) |
Vici syndrome | (Orphanet:1493) |
Vogt-Koyanagi-Harada disease | (Orphanet:3437) |
W syndrome | (Orphanet:2804) |
WAGR syndrome | (Orphanet:893) |
WARBURG MICRO SYNDROME 1 | (OMIM:600118) |
WEILL-MARCHESANI SYNDROME 3 | (OMIM:614819) |
WEILL-MARCHESANI-LIKE SYNDROME | (OMIM:613195) |
WIDOW'S PEAK SYNDROME | (OMIM:314570) |
Watson syndrome | (Orphanet:3444) |
Weill-Marchesani syndrome | (Orphanet:3449) |
Weismann-Netter syndrome | (Orphanet:3344) |
Werner syndrome | (Orphanet:902) |
White matter hypoplasia - corpus callosum agenesis - intellectual deficit | (Orphanet:3207) |
Wiedemann-Rautenstrauch syndrome | (Orphanet:3455) |
Wiedemann-Steiner syndrome | (Orphanet:319182) |
Williams syndrome | (Orphanet:904) |
Wilson-Turner syndrome | (Orphanet:3459) |
Wolcott-Rallison syndrome | (Orphanet:1667) |
Wolf-Hirschhorn syndrome | (Orphanet:280) |
Wolfram syndrome 1 | (OMIM:222300) |
Wrinkly skin syndrome | (Orphanet:2834) |
X-linked Ehlers-Danlos syndrome | (Orphanet:75497) |
X-linked agammaglobulinemia | (Orphanet:47) |
X-linked creatine transporter deficiency | (Orphanet:52503) |
X-linked dominant chondrodysplasia punctata | (Orphanet:35173) |
X-linked dominant chondrodysplasia, Chassaing-Lacombe type | (Orphanet:163966) |
X-linked hypophosphatemia | (Orphanet:89936) |
X-linked intellectual deficit - hypotonic face | (Orphanet:73220) |
X-linked intellectual deficit, Golabi-Ito-Hall type | (Orphanet:93947) |
X-linked intellectual deficit, Najm type | (Orphanet:163937) |
X-linked intellectual disability due to GRIA3 anomalies | (Orphanet:364028) |
X-linked intellectual disability-retinitis pigmentosa syndrome | (Orphanet:85332) |
X-linked mandibulofacial dysostosis | (Orphanet:1131) |
Xeroderma pigmentosum | (Orphanet:910) |
Xeroderma pigmentosum complementation group B | (Orphanet:276252) |
Xeroderma pigmentosum complementation group F | (Orphanet:276264) |
Xeroderma pigmentosum/Cockayne syndrome complex | (Orphanet:220295) |
Xp22.3 microdeletion syndrome | (Orphanet:1643) |
Xq27.3q28 duplication syndrome | (Orphanet:261483) |
Yunis-Varon syndrome | (Orphanet:3472) |
Zellweger syndrome | (Orphanet:912) |
Zellweger-like syndrome without peroxisomal anomalies | (Orphanet:50812) |
[DEL] GLYCOGEN STORAGE DISEASE Ib | (OMIM:232220) |
[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME | (OMIM:601321) |
[DEL] RENAL TUBULAR ACIDOSIS, PROXIMAL | (OMIM:179830) |