Concept information
Preferred term
Recessive hereditary disorder, NOS
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Narrower concepts
- 2-aminoadipic 2-oxoadipic aciduria (disorder)
- 2p21 microdeletion syndrome (disorder)
- 2p21 microdeletion syndrome without cystinuria (disorder)
- 3-methylglutaconic aciduria type 5 (disorder)
- 3-M syndrome
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)
- 3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)
- 46,XX disorder of sex development with skeletal anomalies syndrome (disorder)
- 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
- 5-amino-4-imidazole carboxamide ribosiduria (disorder)
- 7p22.1 microduplication syndrome (disorder)
- Absent tibia, polydactyly, arachnoid cyst syndrome (disorder)
- Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder)
- Achalasia microcephaly syndrome (disorder)
- Achromatopsia
- Ackerman syndrome (disorder)
- Acrocallosal syndrome (disorder)
- Acrocapitofemoral dysplasia (disorder)
- Acrocephalopolydactyly (disorder)
- Acrocephalopolysyndactyly type IV (disorder)
- Acrocraniofacial dysostosis (disorder)
- Acrofacial dysostosis Kennedy Teebi type (disorder)
- Acrofacial dysostosis Rodriguez type (disorder)
- Acrofrontofacionasal dysostosis (disorder)
- Acro-fronto-facio-nasal dysostosis type 2
- Acromesomelic dysplasia Maroteaux type (disorder)
- Acrootoocular syndrome (disorder)
- Acrorenal mandibular syndrome (disorder)
- Acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein (disorder)
- Acute infantile liver failure with multisystemic involvement syndrome
- Adducted thumbs and arthrogryposis syndrome Christian type (disorder)
- Adult-onset autosomal recessive cerebellar ataxia (disorder)
- Adult-onset autosomal recessive sideroblastic anemia (disorder)
- Adult-onset dystonia parkinsonism (disorder)
- Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
- Adult polyglucosan body disease (disorder)
- AFG3L2 (AFG3 like matrix AAA peptidase subunit 2) related spastic ataxia, myoclonic epilepsy, neuropathy syndrome
- Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)
- Agenesis of corpus callosum with polyneuropathy
- ALG12-congenital disorder of glycosylation (disorder)
- Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder)
- Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections
- Alport syndrome autosomal recessive (disorder)
- Amaurosis hypertrichosis syndrome (disorder)
- Amelogenesis imperfecta and gingival hyperplasia syndrome (disorder)
- Aminoacylase 1 deficiency
- Amish lethal microcephaly (disorder)
- AMRF - action myoclonus renal failure
- Anauxetic dysplasia
- ANE syndrome
- Aniridia, renal agenesis, psychomotor retardation syndrome
- Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder)
- Anonychia with microcephaly syndrome (disorder)
- Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder)
- Anophthalmia plus syndrome (disorder)
- Anophthalmos with limb anomalies
- Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder)
- Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
- Aphonia, hearing loss, retinal dystrophy, duplicated halluces, intellectual disability syndrome
- Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder)
- Aplasia cutis with myopia syndrome (disorder)
- Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
- ARSACS - autosomal recessive spastic ataxia of Charlevoix-Saguenay
- ARSAL - autosomal recessive spastic ataxia with leukoencephalopathy
- Arthrogryposis and ectodermal dysplasia syndrome
- Arthrogryposis multiplex congenita and whistling face syndrome (disorder)
- Asparagine-linked glycosylation 1 congenital disorder of glycosylation (disorder)
- Asparagine-linked glycosylation 3 congenital disorder of glycosylation (disorder)
- Asparagine-linked glycosylation 8 congenital disorder of glycosylation (disorder)
- Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder)
- Athabaskan brainstem dysgenesis syndrome (disorder)
- Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder)
- ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis
- Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder)
- Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)
- Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder)
- Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
- Autoimmune lymphoproliferative syndrome with recurrent viral infection (disorder)
- Autoinflammation, lipodystrophy and dermatosis syndrome
- Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency
- Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
- Autosomal recessive amelia (disorder)
- Autosomal recessive aplasia cutis congenita of limb (disorder)
- Autosomal recessive ataxia due to ubiquinone deficiency (disorder)
- Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy
- Autosomal recessive axonal neuropathy with neuromyotonia
- Autosomal recessive bilateral optic atrophy (disorder)
- Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)
- Autosomal recessive brachyolmia (disorder)
- Autosomal recessive cerebellar ataxia Beauce type (disorder)
- Autosomal recessive cerebellar ataxia due to GBA2 (glucosylceramidase beta 2) deficiency
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN (RUN and cysteine rich domain containing beclin 1 interacting protein) deficiency
- Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX (WW domain containing oxidoreductase) deficiency
- Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (disorder)
- Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome (disorder)
- Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (disorder)
- Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder)
- Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome
- Autosomal recessive cerebelloparenchymal disorder type 3 (disorder)
- Autosomal recessive cerebral atrophy
- Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)
- Autosomal recessive demyelinating Charcot-Marie-Tooth
- Autosomal recessive distal osteolysis syndrome (disorder)
- Autosomal recessive distal spinal muscular atrophy type 4
- Autosomal recessive dyskeratosis congenita
- Autosomal recessive faciodigitogenital syndrome (disorder)
- Autosomal recessive frontotemporal pachygyria (disorder)
- Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- Autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
- Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
- Autosomal recessive ichthyosis (disorder)
- Autosomal recessive idiopathic familial dystonia
- Autosomal recessive infantile hypercalcemia (disorder)
- Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (disorder)
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (disorder)
- Autosomal recessive lymphoproliferative disease (disorder)
- Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder)
- Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder)
- Autosomal recessive muscular dystrophy with limb girdle distribution
- Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)
- Autosomal recessive nail dysplasia
- Autosomal recessive omodysplasia (disorder)
- Autosomal recessive optic atrophy OPA7 type
- Autosomal recessive osteopetrosis type 7
- Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)
- Autosomal recessive popliteal pterygium syndrome (disorder)
- Autosomal recessive primary microcephaly (disorder)
- Autosomal recessive progressive external ophthalmoplegia
- Autosomal recessive SCID
- Autosomal recessive secondary polycythaemia not associated with Von Hippel Lindau gene
- Autosomal recessive severe congenital neutropenia due to CSF3R (colony stimulating factor 3 receptor) deficiency
- Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency
- Autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency
- Autosomal recessive severe congenital neutropenia due to JAGN1 (jagunal homolog 1) deficiency
- Autosomal recessive sideroblastic anemia (disorder)
- Autosomal recessive spastic ataxia type 4
- Autosomal recessive spinocerebellar ataxia type 7
- Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)
- Axial spondylometaphyseal dysplasia (disorder)
- Bamforth Lazarus syndrome (disorder)
- Bartter syndrome (disorder)
- Benign Samaritan congenital myopathy (disorder)
- Beta-mercaptolactate cysteine disulfiduria (disorder)
- Bietti's crystalline retinopathy
- Bifid nose, anorectal anomaly, renal anomaly syndrome (disorder)
- Bilateral microtia with deafness and cleft palate syndrome (disorder)
- Bindewald Ulmer Muller syndrome
- Bleeding disorder due to deficiency of calcium and diacylglycerol-regulated guanine nucleotide exchange factor I (disorder)
- Blepharophimosis, intellectual disability syndrome, Verloes type (disorder)
- Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome (disorder)
- Bone dysplasia lethal Holmgren type (disorder)
- Bone fragillity, contractures, arterial rupture, deafness syndrome
- Bosley Salih Alorainy syndrome (disorder)
- Bothnia retinal dystrophy (disorder)
- Bowen-Conradi syndrome (disorder)
- Brachydactyly, short stature, retinitis pigmentosa syndrome (disorder)
- Braddock syndrome (disorder)
- Brain calcification Rajab type (disorder)
- Brain dopamine-serotonin vesicular transport disease (disorder)
- Brody myopathy
- Calderón González Cantu syndrome
- Campomelia Cumming type (disorder)
- Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
- Camptodactyly syndrome Guadalajara type 1 (disorder)
- Camptodactyly syndrome Guadalajara type 2 (disorder)
- Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder)
- Carbamoyl-phosphate synthetase I deficiency
- Carbohydrate deficient glycoprotein syndrome type 1m (disorder)
- Carbohydrate deficient glycoprotein syndrome type 1o (disorder)
- Carbohydrate deficient glycoprotein syndrome type 2a (disorder)
- Carbohydrate deficient glycoprotein syndrome type 2d (disorder)
- Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1
- Carbohydrate deficient glycoprotein syndrome type 2j
- Carbohydrate deficient glycoprotein syndrome type 2k (disorder)
- Carbohydrate deficient glycoprotein syndrome type V
- Cardiomyopathy with cataract and hip spine disease syndrome (disorder)
- Cataract, congenital heart disease, neural tube defect syndrome (disorder)
- Catel Manzke syndrome (disorder)
- CCFDN - congenital cataracts, facial dysmorphism and neuropathy
- CDAGS (craniosynostosis, clavicular hypoplasia, delayed closure of fontanelle, anal anomalies, genitourinary malformations, skin eruption) syndrome
- CDG2G - carbohydrate deficient glycoprotein syndrome type 2G
- Cenani Lenz syndrome
- Cerebellar ataxia Cayman type (disorder)
- Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
- Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
- Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)
- Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder)
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (disorder)
- Cerebral creatine deficiency syndrome 3
- Cerebral folate transport deficiency (disorder)
- Cerebrofacioarticular syndrome (disorder)
- Cerebro-facio-thoracic dysplasia (disorder)
- Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder)
- Cervical hypertrichosis and peripheral neuropathy syndrome (disorder)
- Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome
- Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (disorder)
- Childhood myocerebrohepatopathy spectrum (disorder)
- Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (disorder)
- Childhood-onset spasticity with hyperglycinemia (disorder)
- Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder)
- Cholestasis-edema syndrome, Norwegian type
- Chondrodysplasia punctata Toriello type (disorder)
- Chondrodysplasia with disorder of sex development syndrome (disorder)
- Chondrodysplasia with joint dislocations gPAPP type (disorder)
- Chronic atrial and intestinal dysrhythmia (disorder)
- Chudley McCullough syndrome (disorder)
- Chudley Rozdilsky syndrome
- Chuvash polycythemia
- Chylomicron retention disease
- Citrin deficiency (disorder)
- Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder)
- Cleft palate with stapes fixation and oligodontia syndrome (disorder)
- Cloverleaf skull with multiple congenital anomalies syndrome (disorder)
- Coats plus syndrome
- Cobblestone lissencephaly without muscular or ocular involvement (disorder)
- Cocoon syndrome
- Coenzyme A synthase protein associated neurodegeneration (disorder)
- Coenzyme Q10 deficiency (disorder)
- Cold-induced sweating syndrome (disorder)
- Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)
- Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia
- Combined deficiency of factor V and factor VIII (disorder)
- Combined immunodeficiency due to calcium release activated calcium channel dysfunction (disorder)
- Combined immunodeficiency due to interleukin 21 receptor deficiency (disorder)
- Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency (disorder)
- Combined immunodeficiency due to OX40 deficiency
- Combined immunodeficiency due to STK4 deficiency
- Combined oxidative phosphorylation defect type 11
- Combined oxidative phosphorylation defect type 13 (disorder)
- Combined oxidative phosphorylation defect type 14
- Combined oxidative phosphorylation defect type 2
- Combined oxidative phosphorylation defect type 4
- Combined oxidative phosphorylation defect type 5 (disorder)
- Combined oxidative phosphorylation defect type 7 (disorder)
- Combined oxidative phosphorylation defect type 8 (disorder)
- Combined oxidative phosphorylation defect type 9 (disorder)
- Combined oxidative phosphorylation deficiency type 20 (disorder)
- Complement component 3 deficiency
- Component of oligomeric golgi complex 5 congenital disorder of glycosylation (disorder)
- Component of oligomeric golgi complex 7 congenital disorder of glycosylation (disorder)
- Component of oligomeric golgi complex 8 congenital disorder of glycosylation (disorder)
- Cone dystrophy with supernormal rod response (disorder)
- Congenital adrenal hyperplasia
- Congenital amegakaryocytic thrombocytopenia (disorder)
- Congenital analbuminemia (disorder)
- Congenital bile acid synthesis defect type 3 (disorder)
- Congenital bowing of long bone (disorder)
- Congenital cataract, hearing loss, severe developmental delay syndrome (disorder)
- Congenital cataract, nephropathy, encephalopathy syndrome (disorder)
- Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome
- Congenital cataract with ataxia and deafness syndrome (disorder)
- Congenital cataract with deafness and hypogonadism syndrome (disorder)
- Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder)
- Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency (disorder)
- Congenital chronic diarrhea with protein-losing enteropathy (disorder)
- Congenital deafness with inner ear agenesis, microtia, and microdontia
- Congenital deafness with split hands and feet
- Congenital disorder of glycosylation type 1e (disorder)
- Congenital disorder of glycosylation type 1f (disorder)
- Congenital disorder of glycosylation type 1j (disorder)
- Congenital disorder of glycosylation type 1q (disorder)
- Congenital disorder of glycosylation type Ip
- Congenital disorder of glycosylation type Ix
- Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)
- Congenital hypoplasia of ulna and intellectual disability syndrome (disorder)
- Congenital intrauterine infection-like syndrome (disorder)
- Congenital lactase deficiency
- Congenital leptin deficiency
- Congenital lethal erythroderma (disorder)
- Congenital lethal myopathy Compton North type
- Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells (disorder)
- Congenital methemoglobinemia due to NADH-cytochrome b5 reductase 3 deficiency
- Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
- Congenital muscular dystrophy Paradas type (disorder)
- Congenital muscular dystrophy type 1B
- Congenital muscular dystrophy with integrin alpha-7 deficiency (disorder)
- Congenital muscular dystrophy with intellectual disability and severe epilepsy
- Congenital myopathy, cleft palate. malignant hyperthermia syndrome
- Congenital myopathy with myasthenic-like onset (disorder)
- Congenital myotonia, autosomal recessive form
- Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
- Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder)
- Congenital plasminogen activator inhibitor deficiency type 1 (disorder)
- Congenital pontocerebellar hypoplasia type 10 (disorder)
- Congenital pontocerebellar hypoplasia type 1 (disorder)
- Congenital pontocerebellar hypoplasia type 2 (disorder)
- Congenital pontocerebellar hypoplasia type 3 (disorder)
- Congenital pontocerebellar hypoplasia type 4 (disorder)
- Congenital pontocerebellar hypoplasia type 5 (disorder)
- Congenital pontocerebellar hypoplasia type 6 (disorder)
- Congenital pontocerebellar hypoplasia type 7 (disorder)
- Congenital pontocerebellar hypoplasia type 8 (disorder)
- Congenital pontocerebellar hypoplasia type 9 (disorder)
- Congenital scoliosis with unilateral unsegmented bar
- Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome
- Congenital tufting enteropathy
- Cono-spondylar dysplasia (disorder)
- Constitutional mismatch repair deficiency syndrome (disorder)
- Corneal dystrophy and perceptive deafness syndrome
- Cortical blindness, intellectual disability, polydactyly syndrome (disorder)
- Cortical dysplasia with focal epilepsy syndrome (disorder)
- COXPD10 - combined oxidative phosphorylation defect type 10
- COXPD15 - combined oxidative phosphorylation defect type 15
- COXPD17 - combined oxidative phosphorylation defect type 17
- COXPD21 - combined oxidative phosphorylation defect type 21
- Craniofacial dysplasia osteopenia syndrome
- Craniofacial dyssynostosis syndrome (disorder)
- Craniofacial ulnar renal syndrome (disorder)
- Craniomicromelic syndrome (disorder)
- Cranioosteoarthropathy (disorder)
- Craniosynostosis and intracranial calcification syndrome (disorder)
- Craniosynostosis fibular aplasia syndrome (disorder)
- Cryptophthalmos syndrome
- Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder)
- Cutaneous photosensitivity and lethal colitis syndrome (disorder)
- Cutis laxa, autosomal recessive
- cystic fibrosis
- Cystic leukoencephalopathy without megalencephaly (disorder)
- Cystinuria, type 1
- Dandy-Walker malformation with postaxial polydactyly syndrome
- Deaf blind hypopigmentation syndrome Yemenite type (disorder)
- Deafness and myopia syndrome (disorder)
- Deafness and oligodontia syndrome (disorder)
- Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder)
- Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
- Deafness, vitiligo, achalasia syndrome
- Deafness with cataract and skeletal anomaly syndrome (disorder)
- Deafness with epiphyseal dysplasia and short stature syndrome (disorder)
- Deafness with skeletal dysplasia and lip granuloma syndrome (disorder)
- Defect of purinergic receptor p2y G protein-coupled 12 (disorder)
- Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)
- Deficiency of alpha-ketoglutarate dehydrogenase (disorder)
- Deficiency of dimethylglycine dehydrogenase (disorder)
- Deficiency of glucosyltransferase 1
- Deficiency of leukotriene C4 synthase (disorder)
- Dense deposit disease (disorder)
- Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder)
- Dermatoleukodystrophy
- Dermatoosteolysis Kirghizian type (disorder)
- Dermochondrocorneal dystrophy
- Desmosterolosis (disorder)
- Developmental delay due to ALDH6A1 (aldehyde dehydrogenase 6 family member A1) deficiency
- Developmental delay, hypotonia, extremities hypertrophy syndrome
- Developmental delay with autism spectrum disorder and gait instability (disorder)
- Diabetes, hypogonadism, deafness, intellectual disability syndrome
- Diaphanospondylodysostosis (disorder)
- Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)
- Diaphragmatic hernia-exomphalos-hypertelorism syndrome (disorder)
- Diastrophic dysplasia
- Dicarboxylic aminoaciduria syndrome (disorder)
- Diencephalic mesencephalic junction dysplasia (disorder)
- Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
- Diffuse mesangial sclerosis with ocular abnormalities
- Digital extensor muscle aplasia with polyneuropathy (disorder)
- Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder)
- Distal arthrogryposis type 5D (disorder)
- Distal limb deficiency with micrognathia syndrome (disorder)
- Distal myopathy with anterior tibial onset
- DITRA - deficiency of interleukin 36 receptor antagonist
- DK phocomelia syndrome (disorder)
- Dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation
- Duane anomaly, myopathy, scoliosis syndrome (disorder)
- Duplication of eyebrow and syndactyly syndrome
- Dysmorphism, short stature, deafness, pseudohermaphroditism syndrome
- Dyssegmental dysplasia Silverman Handmaker type (disorder)
- Dystonia 16 (disorder)
- Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder)
- Early-onset Lafora body disease (disorder)
- Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)
- Ectodermal dysplasia and sensorineural deafness syndrome
- Ectodermal dysplasia syndactyly syndrome (disorder)
- Ectodermal dysplasia with blindness syndrome (disorder)
- Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
- Ectopia lentis, chorioretinal dystrophy, myopia syndrome (disorder)
- Ectrodactyly polydactyly syndrome
- Ehlers-Danlos syndrome cardiac valvular type (disorder)
- Ehlers-Danlos syndrome due to tenascin-X deficiency
- Ehlers-Danlos syndrome kyphoscoliotic type (disorder)
- Ehlers-Danlos syndrome musculocontractural type (disorder)
- Ehlers-Danlos syndrome progeroid type (disorder)
- Ehlers-Danlos syndrome spondylocheirodysplastic type
- Eiken syndrome (disorder)
- Encephalopathy due to prosaposin deficiency (disorder)
- Encephalopathy due to sulfite oxidase deficiency (disorder)
- Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)
- Endocrine-cerebro-osteodysplasia syndrome (disorder)
- Eosinophil peroxidase deficiency (disorder)
- Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)
- Epileptic encephalopathy with global cerebral demyelination (disorder)
- Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)
- Ethylmalonic encephalopathy (disorder)
- Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder)
- Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
- FADD-related immunodeficiency
- Familial aldosterone deficiency (disorder)
- Familial angiolipomatosis
- Familial benign flecked retina
- Familial CD8 deficiency
- Familial glucocorticoid deficiency (disorder)
- Familial hemophagocytic lymphohistiocytosis (disorder)
- Familial hypercholanemia (disorder)
- Familial hypercholesterolaemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
- Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)
- Familial infantile myoclonus epilepsy
- Familial isolated trichomegaly
- Familial median cleft of upper and lower lip (disorder)
- Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (disorder)
- Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder)
- FAST kinase domains 2-related infantile mitochondrial encephalomyopathy (disorder)
- Fatal infantile hypertonic myofibrillar myopathy (disorder)
- Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (disorder)
- Fatal post-viral neurodegenerative disorder
- Fatty acid hydroxylase associated neurodegeneration (disorder)
- FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
- FFDD type 4 - focal facial dermal dysplasia type 4
- Filippi syndrome (disorder)
- FILS syndrome
- Fine Lubinsky syndrome (disorder)
- Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)
- Foetal akinesia, cerebral and retinal hemorrhage syndrome
- Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder)
- Frank-Ter Haar syndrome (disorder)
- Frontofacionasal dysplasia syndrome (disorder)
- Frontonasal dysplasia type 3
- Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)
- Fuhrmann syndrome (disorder)
- Galactosylceramide beta-galactosidase deficiency
- Galloway Mowat syndrome (disorder)
- Ganglioside GM3 synthase deficiency (disorder)
- Genitopalatocardiac syndrome
- German syndrome (disorder)
- Gingival fibromatosis with facial dysmorphism syndrome (disorder)
- Gitelman's syndrome
- Glycogen heart disease
- Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)
- Goldberg Shprintzen megacolon syndrome (disorder)
- Gorlin-Chaudhry-Moss syndrome
- Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome
- Growth delay due to insulin-like growth factor type 1 deficiency (disorder)
- Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death
- Growth retardation, mild developmental delay, chronic hepatitis syndrome
- Haim Munk syndrome (disorder)
- Hall Riggs syndrome (disorder)
- HBSL - hypomyelination, brain stem, spinal cord, leg spasticity
- HCC - hypomyelination and congenital cataract
- Hearing loss, encephaloneuropathy, obesity, valvulopathy syndrome
- Heart defect and limb shortening syndrome (disorder)
- Hemochromatosis type 3 (disorder)
- Hemoglobin E/beta thalassemia disease
- Hemolytic anemia due to adenylate kinase deficiency (disorder)
- Hennekam lymphangiectasia-lymphoedema syndrome
- Hepatic glycogen synthase deficiency (disorder)
- Hepatic lipase deficiency
- Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder)
- Hereditary acrodermatitis enteropathica
- Hereditary arterial and articular multiple calcification syndrome (disorder)
- Hereditary combined deficiency of vitamin K-dependent clotting factors (disorder)
- Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder)
- Hereditary inclusion body myopathy
- Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)
- Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)
- Hereditary xanthinuria type 1
- Hidrotic ectodermal dysplasia Halal type (disorder)
- Hirschsprung disease with deafness and polydactyly syndrome (disorder)
- Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)
- Histiocytosis-lymphadenopathy plus syndrome (disorder)
- Holoprosencephaly and postaxial polydactyly syndrome (disorder)
- Holzgreve Wagner Rehder syndrome
- Homocystinuria without methylmalonic aciduria (disorder)
- Homogentisicaciduria
- Horizontal gaze palsy with progressive scoliosis
- Houlston Ironton Temple syndrome
- Huntington disease-like 3
- Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)
- Hydrocephalus, tall stature, joint laxity syndrome (disorder)
- Hydrolethalus syndrome (disorder)
- Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation
- Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder)
- Hypergonadotropic hypogonadism with cataract syndrome (disorder)
- Hyperinsulinemic hypoglycaemia due to Kir6.2 deficiency, diazoxide-resistant focal form
- Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)
- Hypermanganesemia with dystonia (disorder)
- Hypermethioninemia due to deficiency of glycine N-methyltransferase
- Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)
- Hyperprolinemia type 2 (disorder)
- Hypertelorism with microtia and facial clefting syndrome (disorder)
- Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder)
- Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
- Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder)
- Hypomandibular faciocranial dysostosis (disorder)
- Hypomyelination neuropathy arthrogryposis syndrome (disorder)
- Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder)
- Hypospadias and intellectual disability syndrome Goldblatt type (disorder)
- Hypotrichosis and intellectual disability syndrome Lopes type (disorder)
- Hypotrichosis with juvenile macular degeneration syndrome (disorder)
- IHPRF (infantile hypotonia, psychomotor retardation, characteristic facies )syndrome
- IL10-related early-onset inflammatory bowel disease
- Infantile cerebellar and retinal degeneration (disorder)
- Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
- Infantile choroidocerebral calcification syndrome (disorder)
- Infantile dystonia parkinsonism (disorder)
- Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder)
- Infantile leukoencephalopathy and megalencephaly
- Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (disorder)
- Infantile onset spinocerebellar ataxia (disorder)
- Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder)
- Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder)
- Inherited isolated adrenal insufficiency due to partial cytochrome P450 family 11 subfamily A member 1 deficiency
- Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)
- Intellectual disability Buenos Aires type (disorder)
- Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
- Intellectual disability, epilepsy, bulbous nose syndrome (disorder)
- Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder)
- Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder)
- Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder)
- Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome
- Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder)
- Intellectual disability with cataract and kyphosis syndrome (disorder)
- Intellectual disability with strabismus syndrome (disorder)
- Interleukin-1 receptor-associated kinase 4 deficiency
- Interleukin-2 receptor alpha chain deficiency
- Intraosseous hemangioma
- Iron-refractory iron deficiency anemia (disorder)
- Isolated hyperchlorhidrosis (disorder)
- Isolated mitochondrial respiratory chain complex V deficiency
- Isolated right ventricular hypoplasia (disorder)
- Jackson Barr syndrome
- Jankovic-Rivera syndrome
- Jarcho-Levin syndrome
- Jawad syndrome
- Jeune thoracic dystrophy
- Junctional epidermolysis bullosa (disorder)
- Juvenile amyotrophic lateral sclerosis (disorder)
- Juvenile hyaline fibromatosis
- Kandori fleck retina syndrome
- Kapur Toriello syndrome (disorder)
- Kleiner Holmes syndrome
- Kopysc Barczyk Krol syndrome
- Kreiborg Pakistani syndrome
- Kufor Rakeb syndrome (disorder)
- Kuskokwim syndrome
- LAL (Lysosomal acid lipase) deficiency
- Lambert syndrome
- Laminin subunit beta 2 related infantile-onset nephrotic syndrome
- Laron syndrome with immunodeficiency (disorder)
- Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type
- Lathosterolosis (disorder)
- Leigh syndrome with nephrotic syndrome (disorder)
- Lelis syndrome
- Lethal arteriopathy syndrome due to fibulin-4 deficiency (disorder)
- Lethal congenital contracture syndrome type 1 (disorder)
- Lethal congenital contracture syndrome type 2 (disorder)
- Lethal congenital contracture syndrome type 3 (disorder)
- Lethal faciocardiomelic dysplasia (disorder)
- Lethal Larsen-like syndrome (disorder)
- Lethal multiple pterygium syndrome
- Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder)
- Lethal omphalocele with cleft palate syndrome (disorder)
- Lethal polymalformative syndrome Boissel type
- Lethal recessive chondrodysplasia (disorder)
- Leukoencephalopathy, dystonia, motor neuropathy syndrome
- Leukoencephalopathy, palmoplantar keratoderma syndrome
- Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder)
- Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder)
- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
- Leukoencephalopathy with mild cerebellar ataxia and white matter edema
- Lichtenstein syndrome
- Lipodystrophy, intellectual disability, deafness syndrome (disorder)
- Lipoic acid synthetase deficiency (disorder)
- Lipoyl transferase 1 deficiency (disorder)
- Lissencephaly syndrome Norman Roberts type (disorder)
- Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)
- Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)
- Lymphedema, atrial septal defect, facial changes syndrome (disorder)
- Macrocephaly and developmental delay syndrome
- Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder)
- Macrosomia, microphthalmia, cleft palate syndrome
- Macular coloboma, cleft palate, hallux valgus syndrome (disorder)
- Majeed syndrome
- Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)
- Manitoba oculotrichoanal syndrome
- Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation (disorder)
- Mardini Nyhan syndrome
- Marfanoid habitus with autosomal recessive intellectual disability syndrome
- MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 3
- McPherson Clemens syndrome
- Meckel syndrome type 7
- Meconium ileus due to guanylate cyclase 2C deficiency
- Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
- MEMSA - myoclonic epilepsy myopathy sensory ataxia
- Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 1 deficiency (disorder)
- Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder)
- Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency (disorder)
- Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder)
- Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency (disorder)
- Merosin-negative congenital muscular dystrophy
- Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder)
- Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)
- Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
- Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency
- Methylmalonic aciduria due to transcobalamin receptor defect (disorder)
- MGA7 - 3-methylglutaconic aciduria type 7
- Microbrachycephaly, ptosis, cleft lip syndrome (disorder)
- Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)
- Microcephalic osteodysplastic primordial dwarfism types I and III (disorder)
- Microcephalic primordial dwarfism Alazami type (disorder)
- Microcephalic primordial dwarfism Dauber type
- Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)
- Microcephalic primordial dwarfism of Toriello type (disorder)
- Microcephalus, complex motor and sensory axonal neuropathy syndrome
- Microcephalus co-occurrent with cervical spine fusion anomaly (disorder)
- Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder)
- Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
- Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)
- Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)
- Microcephaly-capillary malformation syndrome
- Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
- Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder)
- Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)
- Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)
- Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder)
- Microlissencephaly micromelia syndrome (disorder)
- Microphthalmia with brain atrophy syndrome (disorder)
- Microtia, absent patellae, micrognathia syndrome
- Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9 (disorder)
- Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)
- Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
- Mitochondrial DNA depletion syndrome hepatocerebrorenal form
- Mitochondrial encephalocardiomyopathy due to transmembrane protein 70 mutation (disorder)
- Mitochondrial membrane protein associated neurodegeneration (disorder)
- Mitochondrial myopathy with sideroblastic anemia syndrome (disorder)
- Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder)
- Mitochondrial phosphate carrier deficiency
- Miyoshi muscular dystrophy type 3
- Moyamoya disease with early onset achalasia (disorder)
- Moynahan syndrome
- Mucolipidosis type IV (disorder)
- Multicentric osteolysis nodulosis arthropathy spectrum (disorder)
- Multiple congenital anomalies, hypotonia, seizures syndrome (disorder)
- Multiple epiphyseal dysplasia Al-Gazali type (disorder)
- Multiple epiphyseal dysplasia type 4 (disorder)
- Multiple mitochondrial dysfunctions syndrome (disorder)
- Muscle and heart glycogen synthase deficiency (disorder)
- Muscle eye brain disease with bilateral multicystic leucodystrophy
- Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)
- Myosclerosis (disorder)
- Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome
- Navajo neuropathy
- Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome (disorder)
- Neonatal inflammatory skin and bowel disease (disorder)
- Nephropathy, deafness, hyperparathyroidism syndrome (disorder)
- Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome
- Nestor Guillermo progeria syndrome (disorder)
- Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder)
- Neuroectodermal melanolysosomal disease (disorder)
- Neurofaciodigitorenal syndrome (disorder)
- Neurogenic arthrogryposis multiplex congenita (disorder)
- Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)
- Neutral lipid storage disease without ichthyosis
- N-glycanase 1 congenital disorder of deglycosylation (disorder)
- Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder)
- North American Indian childhood cirrhosis
- Obesity due to centrosomal protein 19 deficiency
- Obesity due to leptin receptor gene deficiency
- Obesity due to prohormone convertase I deficiency (disorder)
- Obesity due to SIM bHLH transcription factor 1 deficiency
- Occipital pachygyria and polymicrogyria (disorder)
- Oculoauricular syndrome Schorderet type
- Oculocerebral hypopigmentation syndrome of Preus type (disorder)
- Oculocerebrofacial syndrome Kaufman type (disorder)
- Oculogastrointestinal muscular dystrophy (disorder)
- Oculoosteocutaneous syndrome (disorder)
- Oculopalatocerebral syndrome (disorder)
- Odontohypophosphatasia (disorder)
- Odontotrichomelic syndrome
- Oligohydramnios sequence
- Onat syndrome
- Oro-facial digital syndrome type 14
- Oro-facial digital syndrome type 5 (disorder)
- Oro-facial digital syndrome type 9 (disorder)
- Osteopenia, intellectual disability, sparse hair syndrome (disorder)
- Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
- Otulipenia
- Pachygyria, intellectual disability, epilepsy syndrome (disorder)
- Pacman dysplasia (disorder)
- Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder)
- Palmoplantar keratoderma Nagashima type (disorder)
- Parana hard skin syndrome (disorder)
- Parkinsonian pyramidal syndrome (disorder)
- Partial agenesis of pancreas (disorder)
- Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome
- PEHO-like syndrome
- Pelizaeus Merzbacher like disease (disorder)
- Pelviscapular dysplasia
- Perlman syndrome (disorder)
- Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder)
- Peroxisome biogenesis disorder spectrum
- Persistent oviduct syndrome
- PGM1-related congenital disorder of glycosylation
- Phenylketonuria
- Phocomelia Schinzel type (disorder)
- Pierson syndrome (disorder)
- Pili torti onychodysplasia syndrome (disorder)
- Poikiloderma with neutropenia
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)
- Polyglucosan body myopathy type 1 (disorder)
- Polymicrogyria with optic nerve hypoplasia
- Polysyndactyly and cardiac malformation syndrome (disorder)
- Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder)
- Postaxial polydactyly and intellectual disability syndrome (disorder)
- Postaxial polydactyly, dental, vertebral anomalies syndrome
- Potter sequence cleft lip and palate cardiopathy syndrome (disorder)
- Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder)
- PRICKLE1-related progressive myoclonic epilepsy with ataxia
- Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)
- Primary hyperoxaluria
- Primary immunodeficiency syndrome due to p14 deficiency (disorder)
- Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder)
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection (disorder)
- Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
- Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)
- Progressive bulbar palsy with sensorineural deafness (disorder)
- Progressive cavitating leukoencephalopathy (disorder)
- Progressive deafness with stapes fixation (disorder)
- Progressive epilepsy with mental retardation
- Progressive external ophthalmoplegia, myopathy, emaciation syndrome
- Progressive myoclonic epilepsy due to KCTD7 deficiency
- Progressive myoclonic epilepsy type 6 (disorder)
- Progressive myoclonic epilepsy type 8 (disorder)
- Progressive polyneuropathy with bilateral striatal necrosis
- Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
- Proximal myopathy with extrapyramidal signs
- Pseudodiastrophic dysplasia
- Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)
- Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder)
- Ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome (disorder)
- Puerto Rican infant hypotonia syndrome (disorder)
- Pyknoachondrogenesis (disorder)
- Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder)
- Pyridoxal 5-phosphate dependent epilepsy (disorder)
- Pyridoxine-dependent epilepsy (disorder)
- RAB18, member RAS oncogene family deficiency
- RAPADILINO - radial ray malformations, patella and palate abnormalities, diarrhea and dislocated joints, limb abnormalities and little size, slender nose and normal intelligence
- Recessive dystrophic epidermolysis bullosa
- Recessive mitochondrial ataxia syndrome (disorder)
- Recurrent Neisseria infection due to factor D deficiency
- Renal dysplasia with limb defect syndrome (disorder)
- Renal hepatic pancreatic dysplasia (disorder)
- Renal tubular acidosis with progressive nerve deafness
- Renal tubulopathy with encephalopathy and liver failure syndrome (disorder)
- Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
- Retinal detachment and occipital encephalocele
- Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder)
- Retinitis punctata albescens (disorder)
- Retinohepatoendocrinologic syndrome (disorder)
- Retinol dystrophy, iris coloboma, comedogenic acne syndrome
- Retinopathy Burgess Black type
- RFT1-CDG (congenital disorder of glycosylation)
- Rhizomelic syndrome Urbach type
- Richards-Rundle syndrome (disorder)
- Richieri Costa-da Silva syndrome
- RI-CMT type A - autosomal recessive intermediate Charcot-Marie-Tooth disease type A
- RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties) syndrome
- RNA polymerase III-related leukodystrophy
- Roifman Chitayat syndrome
- Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome
- Salih congenital muscular dystrophy
- SCAR6 - autosomal recessive spinocerebellar ataxia type 6
- Schimke immuno-osseous dysplasia (disorder)
- Schwartz-Jampel syndrome
- Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)
- Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)
- Sengers syndrome
- Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder)
- Severe congenital neutropenia type 3
- Severe dermatitis, multiple allergies, metabolic wasting syndrome
- Severe early childhood onset retinal dystrophy (disorder)
- Severe early-onset axonal neuropathy due to MFN2 (mitofusin 2) deficiency
- Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)
- Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
- Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)
- Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)
- Severe neurodegenerative syndrome due to BSCL2 deficiency
- Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)
- Shaheen syndrome
- Short rib polydactyly syndrome
- Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome
- Short stature due to primary acid labile subunit deficiency (disorder)
- Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder)
- Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)
- Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder)
- Sialidosis
- Siegler Brewer Carey syndrome (disorder)
- Signal transducer and activator of transcription 1 deficiency
- Sinoatrial node dysfunction and deafness
- Skeletal dysplasia with epilepsy and short stature syndrome (disorder)
- Smith McCort dysplasia (disorder)
- SOFT syndrome
- Sonoda syndrome
- Spectrin-associated autosomal recessive cerebellar ataxia
- Spinocerebellar ataxia, amyotrophy, deafness syndrome
- Spinocerebellar ataxia autosomal recessive type 23
- Spinocerebellar ataxia dysmorphism syndrome
- Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
- Spinocerebellar degeneration and corneal dystrophy syndrome (disorder)
- Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)
- Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder)
- Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome (disorder)
- Spondyloepimetaphyseal dysplasia aggrecan type (disorder)
- Spondyloepimetaphyseal dysplasia Genevieve type (disorder)
- Spondyloepimetaphyseal dysplasia Irapa type (disorder)
- Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
- Spondyloepimetaphyseal dysplasia Shohat type (disorder)
- Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
- Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)
- Spondyloepiphyseal dysplasia, Omani type
- Spondyloepiphyseal dysplasia tarda Kohn type (disorder)
- Spondylo-megaepiphyseal-metaphyseal dysplasia
- Spondylometaphyseal dysplasia A4 type (disorder)
- Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)
- Spondyloocular syndrome (disorder)
- Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder)
- Stimmler syndrome
- Stoelinga de Koomen Davis syndrome
- STT3A-CDG (congenital disorder of glycosylation)
- Sucrase-isomaltase deficiency
- Summitt syndrome
- Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome (disorder)
- Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder)
- Talo-patello-scaphoid osteolysis syndrome (disorder)
- Tangier disease (disorder)
- Taurodontia with absent teeth and sparse hair syndrome (disorder)
- Tay-Sachs disease
- T-cell immunodeficiency due to RHOH (ras homolog family member H) deficiency
- T-cell receptor alpha-beta-positive T-cell deficiency
- Teebi Shaltout syndrome
- Tel Hashomer camptodactyly syndrome (disorder)
- Temtamy preaxial brachydactyly syndrome
- Temtamy syndrome
- Tetra-amelia syndrome (disorder)
- Thakker Donnai syndrome
- Thiamine-responsive encephalopathy (disorder)
- Thiamine transporter-2 deficiency
- THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
- Thoracic dysplasia and hydrocephalus syndrome
- Thoracomelic dysplasia (disorder)
- Thymic, renal, anal, lung dysplasia syndrome (disorder)
- Thyrocerebrorenal syndrome
- Toriello Carey syndrome
- Transient infantile hypertriglyceridemia and hepatosteatosis
- Tricho-hepato-enteric syndrome
- Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)
- Trichoodontoonychial dysplasia
- Trichothiodystrophy (disorder)
- Trilineage bone marrow failure with developmental delay syndrome
- Tungland Bellman syndrome
- Upper limb defect with eye and ear abnormalities syndrome (disorder)
- Van den Ende-Gupta syndrome (disorder)
- Vasculitis due to ADA2 deficiency
- Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus (disorder)
- Vici syndrome (disorder)
- Warsaw breakage syndrome (disorder)
- Weaver Williams syndrome (disorder)
- White forelock with malformations syndrome
- Wilson's disease
- Winship Viljoen Leary syndrome
- Xylosyltransferase 1 congenital disorder of glycosylation
- XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
- Zaki Gleeson syndrome
- Zechi Ceide syndrome
- Zellweger-like syndrome without peroxisomal anomaly (disorder)
In other languages
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Persian
URI
http://www.irandoc.acir/onto/irandoc/85995004
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