Agent Commons Collaborative Research

Syndromic disease

A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.

Identifiers
MONDO:0002254
Part of
Disease by body system or component
Also known as
cluster, symptom · clusters, symptom · symptom cluster · symptom clusters · syndrome

Subtypes

All diseases Rare only
Disease Subtypes
Neoplastic syndrome 312
Ectodermal dysplasia syndrome 203
Syndromic intellectual disability 162
Autoinflammatory syndrome 127
Syndromic craniosynostosis 69
Complex hereditary spastic paraplegia 67
Primary ciliary dyskinesia 60
Nephrotic syndrome 48
Peroxisome biogenesis disorder 47
Ehlers-Danlos syndrome 44
Joubert syndrome 44
Syndromic dyslipidemia 43
Congenital myasthenic syndrome 37
Short rib-polydactyly syndrome 36
Syndromic microphthalmia 35
Oromandibular-limb anomalies syndrome 27
Long QT syndrome 26
Syndromic congenital heart disease 23
Bardet-Biedl syndrome 22
Syndromic agammaglobulinemia 21
Syndromic oculocutaneous albinism 21
Holoprosencephaly 20
Visceral heterotaxy 20
Usher syndrome 19
Kallmann syndrome 18
Type 2 collagenopathy 18
Myotonic syndrome 17
Noonan syndrome 16
Progressive familial intrahepatic cholestasis 16
Hemophagocytic syndrome 15
Meckel syndrome 14
Paraneoplastic syndrome 14
Coffin-Siris syndrome 12
Cushing syndrome 12
Seckel syndrome 12
Waardenburg syndrome 12
Fanconi renotubular syndrome 11
Guillain-Barre syndrome 11
Silver-Russell syndrome 11
Nodular neuronal heterotopia 11
Galloway-Mowat syndrome 10
MELAS syndrome 10
Meier-Gorlin syndrome 10
Hypereosinophilic syndrome 10
Brugada syndrome 9
Atypical hemolytic-uremic syndrome 9
Growth hormone insensitivity syndrome 9
Bartter syndrome 8
Infantile spasms 8
Progressive supranuclear palsy 8
IRF6-related condition 7
Prader-Willi syndrome 7
Heart-hand syndrome 7
Cornelia de Lange syndrome 6
DICER1-related tumor predisposition 6
Loeys-Dietz syndrome 6
Robinow syndrome 6
Stickler syndrome 6
Linkeropathy 6
Xeroderma pigmentosum-Cockayne syndrome complex 6
Alport syndrome 5
CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder 5
Joubert syndrome with ocular defect 5
Joubert syndrome with oculorenal defect 5
Abdominal obesity-metabolic syndrome 5
Antiphospholipid syndrome 5
Familial chylomicronemia syndrome 5
Fetal akinesia deformation sequence 5
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
Sick sinus syndrome 5
Angelman syndrome 4
Bernard-Soulier syndrome 4
Duane retraction syndrome 4
Houge-Janssens syndrome 4
Treacher-Collins syndrome 4
Turner syndrome 4
Weill-Marchesani syndrome 4
Acute respiratory distress syndrome 4
Alopecia - intellectual disability syndrome 4
Autoimmune polyendocrinopathy 4
Cerebellar ataxia, intellectual disability, and dysequilibrium 4
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 4
Fragile X syndrome 4
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 4
Mitochondrial neurogastrointestinal encephalomyopathy 4
Mucopolysaccharidosis type 3 4
Multiple synostoses syndrome 4
Primary hypertrophic osteoarthropathy 4
3-M syndrome 3
Alagille syndrome 3
Axenfeld-Rieger syndrome 3
Fraser syndrome 3
Hennekam syndrome 3
Lennox-Gastaut syndrome 3
Liddle syndrome 3
NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 3
Neu-Laxova syndrome 3
Noonan syndrome with multiple lentigines 3
RNU4ATAC spectrum disorder 3
Shwachman-Diamond syndrome 3
Wolfram syndrome 3
Branchiootic syndrome 3
Faciodigitogenital syndrome 3
Iridocorneal endothelial syndrome 3
Motor developmental delay due to 14q32.2 paternally expressed gene defect 3
Mucopolysaccharidosis type 4 3
Parkinsonism-dystonia, infantile 3
Stiff-person syndrome 3
Thoracic outlet syndrome 3
Baraitser-Winter cerebrofrontofacial syndrome 2
Birt-Hogg-Dube syndrome 2
Bruck syndrome 2
Camurati-Engelmann disease 2
Cole-Carpenter syndrome 2
Crigler-Najjar syndrome 2
Duane-radial ray syndrome 2
EEC syndrome 2
FG syndrome 2
Feingold syndrome 2
HOXA1-related syndrome 2
IFAP syndrome 2
Imerslund-Grasbeck syndrome 2
Kabuki syndrome 2
Kenny-Caffey syndrome 2
Mayer-Rokitansky-Kuster-Hauser syndrome 2
NDUFB11-related disorders 2
Phelan-McDermid syndrome 2
RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome 2
Schwartz-Jampel syndrome 2
Simpson-Golabi-Behmel syndrome 2
Townes-Brocks syndrome 2
X-linked ichthyosis syndrome 2
Arthrogryposis-renal dysfunction-cholestasis syndrome 2
Autosomal dominant chondrodysplasia punctata 2
Branchio-oto-renal syndrome 2
Calciphylaxis 2
Cardioectodermal syndrome 2
Caudal regression-sirenomelia spectrum 2
Chromosome 18q deletion syndrome 2
Compartment syndrome 2
Congenital hereditary facial paralysis-variable hearing loss syndrome 2
Craniofacial microsomia 2
Cystinuria 2
Disappearing bone disease 2
Hypoplastic right heart syndrome 2
Hypotrichosis-lymphedema-telangiectasia syndrome (grouping) 2
Jaw-winking syndrome 2
Microcephalic osteodysplastic primordial dwarfism types I and III 2
Mucopolysaccharidosis type 2 2
Mucopolysaccharidosis type 6 2
Post-infectious syndrome 2
Septooptic dysplasia 2
Sickle cell-beta-thalassemia disease syndrome 2
Subcortical band heterotopia 2
Toxic shock syndrome 2
Trisomy 13 2
Trisomy 18 2
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 1
CHARGE syndrome 1
Dyggve-Melchior-Clausen disease 1
Freeman-Sheldon syndrome 1
Greig cephalopolysyndactyly syndrome 1
Lesch-Nyhan syndrome 1
Marfan syndrome 1
Moebius syndrome 1
Opitz G/BBB syndrome 1
Pallister-Hall syndrome 1
VACTERL with hydrocephalus 1
VACTERL/vater association 1
Ververi-Brady syndrome 1
Wernicke-Korsakoff syndrome 1
Autosomal dominant cataract 1
Autosomal recessive multiple pterygium syndrome 1
Burning mouth syndrome 1
Carcinoid syndrome 1
Chondrodysplasia 1
Cleft palate-congenital heart defect-intellectual disability syndrome 1
Congenital acardia 1
Congenital cystic eye 1
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1
Developmental and/or epileptic encephalopathy with spike-wave activation in sleep 1
Dry eye syndrome 1
Familial infantile bilateral striatal necrosis 1
Hypotonia-cystinuria syndrome 1
Lethal multiple pterygium syndrome 1
Microcephalic primordial dwarfism due to RTTN deficiency 1
Neonatal aspiration syndrome 1
Oculomaxillofacial dysostosis 1
Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome 1
Psoriatic arthritis 1
46,XX disorder of sex development-anorectal anomalies syndrome
48,XXXY syndrome
48,XXYY syndrome
48,XYYY syndrome
49,XXXXY syndrome
6q terminal deletion syndrome
8p23.1 microdeletion syndrome
ANE syndrome
Aagenaes syndrome
Abruzzo-Erickson syndrome
Achard syndrome
Achenbach syndrome
Acrootoocular syndrome
Ahumada Del Castillo syndrome
Aicardi syndrome
Al-Gazali syndrome
Alkuraya-Kucinskas syndrome
Aloi Tomasini Isaia syndrome
Alsahan-Harris syndrome
Alstrom syndrome
Armfield syndrome
Arnold stickler bourne syndrome
Arts syndrome
Atkin-Flaitz syndrome
Ayme-Gripp syndrome
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
BNAR syndrome
BRESEK syndrome
Bamforth-Lazarus syndrome
Baralle-Macken syndrome
Basilicata-Akhtar syndrome
Behcet disease
Bencze syndrome
Bloom syndrome
Bonnemann-Meinecke-Reich syndrome
Brachymorphism-onychodysplasia-dysphalangism syndrome
Brown-Sequard syndrome
Buschke-Ollendorff syndrome
CADDS
CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
CEDNIK syndrome
CLOVES syndrome
CODAS syndrome
COG1-congenital disorder of glycosylation
COG5-congenital disorder of glycosylation
CREST syndrome
Caroli syndrome
Cerebrorenodigital syndrome
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
Christianson syndrome
Cramp-fasciculation syndrome
Crandall syndrome
Cri-du-chat syndrome
Currarino triad
Czeizel-Losonci syndrome
DK1-congenital disorder of glycosylation
DNA ligase IV deficiency
DOORS syndrome
Dennis-Fairhurst-Moore syndrome
Denys-Drash syndrome
Diamond-Blackfan anemia 2
Dias-Logan syndrome
Donohue syndrome
Drachtman Weinblatt Sitarz syndrome
Duane anomaly-myopathy-scoliosis syndrome
Dubin-Johnson syndrome
EDICT syndrome
Eisenmenger syndrome
Elsahy-Waters syndrome
Erdheim-Chester disease
Evans syndrome
FRAXF syndrome
Felty syndrome
Finnish type amyloidosis
Fontaine farriaux blanckaert syndrome
Frank-Ter Haar syndrome
Frasier syndrome
Freiberg disease
Fryns Smeets Thiry syndrome
Fryns syndrome
Fuchs heterochromic iridocyclitis
Fukuda-Miyanomae-Nakata syndrome
GMS syndrome
Gamstorp-Wohlfart syndrome
German syndrome
Gilbert syndrome
Gitelman syndrome
Goldberg-Shprintzen syndrome
Grisel syndrome
Grubben-de Cock-Borghgraef syndrome
Guttmacher syndrome
HEC syndrome
HELLP syndrome
Hartsfield-Bixler-Demyer syndrome
Hernández-Aguirre Negrete syndrome
Hirschsprung disease-ganglioneuroblastoma syndrome
Hirschsprung disease-hearing loss-polydactyly syndrome
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
Hirschsprung disease-type D brachydactyly syndrome
Holmes-Adie syndrome
Holzgreve-Wagner-Rehder syndrome
Hughes-Stovin syndrome
Hurler syndrome
Hurler-Scheie syndrome
Hutchinson-Gilford progeria syndrome
ICHAD syndrome
IMAGe syndrome
Jacobsen syndrome
Judge Misch wright syndrome
KAT6B-related multiple congenital anomalies syndrome
KLHL7-related Bohring-Opitz-like syndrome
KLHL7-related cold-induced sweating-like syndrome
Kearns-Sayre syndrome
Kleine-Levin syndrome
Kluver-Bucy syndrome
Kocher-debre-Semelaigne syndrome
Kousseff syndrome
Kozlowski Ouvrier syndrome
Kozlowski Warren Fisher syndrome
Kuster syndrome
Landau-Kleffner syndrome
Laurence-Moon syndrome
Lenz-Majewski hyperostotic dwarfism
Liberfarb syndrome
Lopes-Maciel-Rodan syndrome
Lowe-Kohn-Cohen syndrome
Lown-Ganong-Levine syndrome
Luscan-Lumish syndrome
MEDNIK syndrome
MERRF syndrome
MIRAGE syndrome
MPI-congenital disorder of glycosylation
MYT1L-related developmental delay-intellectual disability-obesity syndrome
Mallory-Weiss syndrome
Marinesco-Sjogren syndrome
Marshall-Smith syndrome
McCune-Albright syndrome
Meacham syndrome
Meester-Loeys syndrome
Melhem-Fahl syndrome
Melkersson-Rosenthal syndrome
Menkes disease
Mietens syndrome
Mikati-Najjar-Sahli syndrome
Miller Fisher syndrome
Miller-Dieker lissencephaly syndrome
Morimoto-Ryu-Malicdan neuromuscular syndrome
Muggenthaler-Chowdhury-Chioza syndrome
Nager acrofacial dysostosis
Nathalie syndrome
Netherton syndrome
Norman-Roberts syndrome
PAGOD syndrome
PCWH syndrome
PEHO syndrome
PMP22-RAI1 contiguous gene duplication syndrome
Pallister-W syndrome
Parana hard-skin syndrome
Pearson syndrome
Pendred syndrome
Perlman syndrome
Perry syndrome
Peters plus syndrome
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
Pitt-Hopkins syndrome
Plummer-Vinson syndrome
Poland syndrome
Potocki-Lupski syndrome
Potocki-Shaffer syndrome
Primrose syndrome
Qazi Markouizos syndrome
RHYNS syndrome
Rabson-Mendenhall syndrome
Rahman syndrome
Rett syndrome
Reunion island Larsen syndrome
Reye syndrome
Roberts-SC phocomelia syndrome
Roussy-Levy syndrome
Ruvalcaba syndrome
SCARF syndrome
SHORT syndrome
SUNCT syndrome
Sandifer syndrome
Say-Barber-Miller syndrome
Scheie syndrome
Schilbach-Rott syndrome
Schmid metaphyseal chondrodysplasia
Sheehan syndrome
Sillence syndrome
Sjogren syndrome
Skraban-Deardorff syndrome
Slti-Salem syndrome
Sotos syndrome
Spigelian hernia-cryptorchidism syndrome
Stankiewicz-Isidor syndrome
Stevens-Johnson syndrome
Susac syndrome
Takayasu arteritis
Takenouchi-Kosaki syndrome
Tietze syndrome
Tolosa-Hunt syndrome
Vici syndrome
Waterhouse-Friderichsen syndrome
Weaver syndrome
Werner syndrome
Wiedemann-Rautenstrauch syndrome
Wildervanck syndrome
Williams syndrome
Wolcott-Rallison syndrome
Wolf-Hirschhorn syndrome
X-linked central congenital hypothyroidism with late-onset testicular enlargement
X-linked corneal dermoid
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
X-linked lissencephaly with abnormal genitalia
X-linked mandibulofacial dysostosis
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
X-linked myotubular myopathy-abnormal genitalia syndrome
X-linked spasticity-intellectual disability-epilepsy syndrome
XFE progeroid syndrome
Yunis-Varon syndrome
Zazam Sheriff Phillips syndrome
Zerres Rietschel Majewski syndrome
Ablepharon macrostomia syndrome
Acrofrontofacionasal dysostosis 2
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Acute radiation syndrome
Alacrima, achalasia, and intellectual disability syndrome
Alopecia congenita keratosis palmoplantaris
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
Alpha 1-antitrypsin deficiency
Alpha thalassemia-intellectual disability syndrome type 1
Alpha-mannosidosis type 1
Alpha-thalassemia-myelodysplastic syndrome
Angioosteohypertrophic syndrome
Angioosteohypotrophic syndrome
Aniridia - intellectual disability syndrome
Aniridia-absent patella syndrome
Aniridia-cerebellar ataxia-intellectual disability syndrome
Aniridia-ptosis-intellectual disability-familial obesity syndrome
Aniridia-renal agenesis-psychomotor retardation syndrome
Ankyloblepharon filiforme adnatum-cleft palate syndrome
Ankyloblepharon filiforme-imperforate anus syndrome
Anophthalmia plus syndrome
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
Aplasia cutis congenita-intestinal lymphangiectasia syndrome
Aplasia of lacrimal and salivary glands
Arachnodactyly-intellectual disability-dysmorphism syndrome
Arakawa syndrome 2
Arterial tortuosity-bone fragility syndrome
Ataxia - telangiectasia variant
Ataxia-photosensitivity-short stature syndrome
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
Atrophoderma of Pierini and Pasini
Autism-facial port-wine stain syndrome
Autosomal dominant deafness - onychodystrophy syndrome
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
Axial mesodermal dysplasia spectrum
Bagatelle Cassidy syndrome
Blepharophimosis - intellectual disability syndrome, SBBYS type
Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Brachydactyly type A2
Brachydactyly-arterial hypertension syndrome
Brachydactyly-nystagmus-cerebellar ataxia syndrome
Brachytelephalangy-dysmorphism-Kallmann syndrome
Brittle bone syndrome lethal type
Campomelia, Cumming type
Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
Camptomelic syndrome, long-limb type
Capillary leak syndrome
Cardiac, facial, and digital anomalies with developmental delay
Cardiomyopathy hypogonadism metabolic anomalies
Cardiomyopathy-cataract-hip spine disease syndrome
Cat-eye syndrome
Cataract - microcornea syndrome
Cataract-deafness-hypogonadism syndrome
Cataract-glaucoma syndrome
Cataract-intellectual disability-anal atresia-urinary defects syndrome
Cataract-nephropathy-encephalopathy syndrome
Caudal duplication
Celiac trunk compression syndrome
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
Central nervous system calcification-deafness-tubular acidosis-anemia syndrome
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
Cerebrocostomandibular syndrome
Channelopathy-associated congenital insensitivity to pain, autosomal recessive
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Chondrodysplasia-pseudohermaphroditism syndrome
Chromosome 13q14 deletion syndrome
Chromosome 16p12.1 deletion syndrome, 520kb
Chromosome 18p deletion syndrome
Chromosome 3 duplication syndrome
Chronic atrial and intestinal dysrhythmia
Cleft lip-retinopathy syndrome
Cleft lip/palate-deafness-sacral lipoma syndrome
Cleidocranial dysplasia 1
Cleidorhizomelic syndrome
Cloacal exstrophy
Cochleosaccular degeneration-cataract syndrome
Colobomatous macrophthalmia-microcornea syndrome
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Complement receptor deficiency
Complex regional pain syndrome type 1
Complex regional pain syndrome type 2
Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome
Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
Congenital cataract-ichthyosis syndrome
Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
Congenital generalized hypercontractile muscle stiffness syndrome
Congenital ichthyosis-microcephalus-tetraplegia syndrome
Congenital insensitivity to pain syndrome, Marsili type
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Congenital laryngeal web
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Congenital mumps
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Congenital varicella syndrome
Corneal dystrophy-perceptive deafness syndrome
Corneal-cerebellar syndrome
Corpus callosum agenesis-abnormal genitalia syndrome
Corpus callosum agenesis-double urinary collecting system syndrome
Cortical blindness-intellectual disability-polydactyly syndrome
Cortical dysplasia-focal epilepsy syndrome
Corticobasal degeneration disorder
Craniofaciofrontodigital syndrome
Craniofrontonasal syndrome
Craniosynostosis-facial dysmorphism-chiari-1 malformation-developmental and language delay syndrome
Cystic fibrosis-gastritis-megaloblastic anemia syndrome
De Sanctis-Cacchione syndrome
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
Deafness-hypogonadism syndrome
Deafness-infertility syndrome
Deafness-intellectual disability, Martin-Probst type syndrome
Deafness-lymphedema-leukemia syndrome
Dermochondrocorneal dystrophy
Developmental and speech delay due to SOX5 deficiency
Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
Diaphragmatic defect-limb deficiency-skull defect syndrome
Diaphragmatic hernia-short bowel-asplenia syndrome
Diencephalic syndrome
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Dilated cardiomyopathy 1A
Dilated cardiomyopathy 1E
Distal monosomy 13q
Distal trisomy 14q
Diverticulosis of bowel, hernia, and retinal detachment
Double uterus-hemivagina-renal agenesis syndrome
Drug rash with eosinophilia and systemic symptoms
Dyschondrosteosis-nephritis syndrome
Dystonia-aphonia syndrome
Ectrodactyly-polydactyly syndrome
Empty sella syndrome
Encephalopathy, recurrent, of childhood
Engraftment syndrome
Eosinophilic granulomatosis with polyangiitis
Epidermal nevus syndrome
Epidermolysis bullosa simplex 5B, with muscular dystrophy
Epilepsy with myoclonic atonic seizures
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
Ermine phenotype
Estrogen resistance syndrome
Even-plus syndrome
Exfoliation syndrome
Eyebrow duplication-syndactyly syndrome
Facial hemiatrophy
Familial developmental dysphasia
Familial episodic pain syndrome with predominantly lower limb involvement
Familial intestinal malrotation-facial anomalies syndrome
Familial osteodysplasia, Anderson type
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Ferro-cerebro-cutaneous syndrome
Fetal alcohol syndrome
Fetal cytomegalovirus syndrome
Fetal enterovirus syndrome
Fetal hydantoin syndrome
Fetal parainfluenza virus type 3 syndrome
Fetal valproate syndrome
Fibromyalgia
Fibrosis, neurodegeneration, and cerebral angiomatosis
Fibular aplasia-ectrodactyly syndrome
Finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome
Foix chavany Marie syndrome
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
Fragile X-associated tremor/ataxia syndrome
Frontofacionasal dysplasia
Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
Gastrointestinal defects and immunodeficiency syndrome 1
Genitopatellar syndrome
Gingival fibromatosis-facial dysmorphism syndrome
Glaucoma-sleep apnea syndrome
Global developmental delay-osteopenia-ectodermal defect syndrome
Gray platelet syndrome
Growth delay-hydrocephaly-lung hypoplasia syndrome
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
Growth retardation-mild developmental delay-chronic hepatitis syndrome
Hand-foot-genital syndrome
Hantavirus pulmonary syndrome
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
Hepatic fibrosis-renal cysts-intellectual disability syndrome
Hereditary benign intraepithelial dyskeratosis
Hereditary continuous muscle fiber activity
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Hereditary sensory and autonomic neuropathy with deafness and global delay
High myopia-sensorineural deafness syndrome
Holoprosencephaly-postaxial polydactyly syndrome
Hydrocephalus-blue sclerae-nephropathy syndrome
Hydrocephalus-obesity-hypogonadism syndrome
Hydrocephaly-cerebellar agenesis syndrome
Hypergonadotropic hypogonadism-cataract syndrome
Hypertrichotic osteochondrodysplasia Cantu type
Hypogonadism-mitral valve prolapse-intellectual disability syndrome
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
Hypoparathyroidism-deafness-renal disease syndrome
Hypoparathyroidism-retardation-dysmorphism syndrome
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Hypospadias-intellectual disability, Goldblatt type syndrome
Hypotrichosis-deafness syndrome
Hypotrichosis-intellectual disability, Lopes type
Ichthyosis linearis circumflexa
Ichthyosis prematurity syndrome
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
Ichthyosis-oral and digital anomalies syndrome
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Imperforate oropharynx-costo vetebral anomalies syndrome
Infantile choroidocerebral calcification syndrome
Infantile convulsions and choreoathetosis
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Infantile striato thalamic degeneration
Infundibulopelvic stenosis-multicystic kidney syndrome
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Intellectual disability-epilepsy-extrapyramidal syndrome
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Intellectual disability-strabismus syndrome
Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
Ischio-vertebral syndrome
Isotretinoin syndrome
Joint laxity, short stature, and myopia
Keratosis follicularis-dwarfism-cerebral atrophy syndrome
Laryngeal abductor paralysis-intellectual disability syndrome
Laryngo-onycho-cutaneous syndrome
Lateral medullary syndrome
Lethal congenital contracture syndrome 1
Lethal hemolytic anemia-genital anomalies syndrome
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
Limb body wall complex
Loin pain hematuria syndrome
Lower limb deficiency-hypospadias syndrome
Lung agenesis-heart defect-thumb anomalies syndrome
Lymphedema-atrial septal defects-facial changes syndrome
Lymphedema-cerebral arteriovenous anomaly syndrome
Lymphedema-distichiasis syndrome
Macrocephaly-short stature-paraplegia syndrome
Macrogyria, pseudobulbar palsy and intellectual disability
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Mandibulofacial dysostosis with alopecia
Mesomelic dwarfism-cleft palate-camptodactyly syndrome
Metaphyseal chondrodysplasia, Jansen type
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Methimazole embryofetopathy
Microcephalic primordial dwarfism, Alazami type
Microcephalic primordial dwarfism, Toriello type
Microcephaly and chorioretinopathy 1
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Microcephaly-brachydactyly-kyphoscoliosis syndrome
Microcephaly-brain defect-spasticity-hypernatremia syndrome
Microcephaly-capillary malformation syndrome
Microcephaly-complex motor and sensory axonal neuropathy syndrome
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
Microcephaly-microcornea syndrome, Seemanova type
Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
Microgastria-limb reduction defect syndrome
Microlissencephaly-micromelia syndrome
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Mirror polydactyly-vertebral segmentation-limbs defects syndrome
Mitochondrial DNA depletion syndrome 4a
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Monoclonal mast cell activation syndrome
Monosomy 13q34
Mulibrey nanism
Mullerian derivatives-lymphangiectasia-polydactyly syndrome
Mullerian duct anomalies-limb anomalies syndrome
Multicentric osteolysis, nodulosis, and arthropathy
Multicentric reticulohistiocytosis
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Multiple paragangliomas associated with polycythemia
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
Muscular fibrosis multifocal obstructed vessels
Muscular pseudohypertrophy-hypothyroidism syndrome
Myalgic encephalomeyelitis/chronic fatigue syndrome
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2
Nail-patella syndrome
Nasopalpebral lipoma-coloboma syndrome
Neonatal ichthyosis-sclerosing cholangitis syndrome
Nephrogenic diabetes insipidus-intracranial calcification syndrome
Nephronophthisis 1
Nephropathy - deafness - hyperparathyroidism syndrome
Nephrosis-deafness-urinary tract-digital malformations syndrome
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
Neuroleptic malignant syndrome
Obesity, hyperphagia, and developmental delay
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
Oculocerebrodental syndrome
Oculocerebrofacial syndrome, Kaufman type
Oculocerebrorenal syndrome
Oculodental syndrome, Rutherfurd type
Oculogastrointestinal-neurodevelopmental syndrome
Olivopontocerebellar atrophy-deafness syndrome
Ornithine translocase deficiency
Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome
Orofaciodigital syndrome I
Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
Osteopenia-intellectual disability-sparse hair syndrome
Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
Osteoporosis-pseudoglioma syndrome
Osteosclerosis-ichthyosis-premature ovarian failure syndrome
Otopalatodigital syndrome type 1
Painful legs and moving toes syndrome
Palmoplantar keratoderma-esophageal carcinoma syndrome
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Paraplegia-intellectual disability-hyperkeratosis syndrome
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Pelvis syndrome
Pentasomy X
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Phosphoribosylpyrophosphate synthetase deficiency
Pili torti-developmental delay-neurological abnormalities syndrome
Piriformis syndrome
Pituitary stalk interruption syndrome
Polydactyly-myopia syndrome
Polyendocrine-polyneuropathy syndrome
Polymyalgia rheumatica
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
Postaxial acrofacial dysostosis
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
Primary hypergonadotropic hypogonadism-partial alopecia syndrome
Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Progeria-short stature-pigmented nevi syndrome
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome
Prune belly syndrome
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
Psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome
Ptosis-strabismus-ectopic pupils syndrome
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
Ptosis-vocal cord paralysis syndrome
Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
Radial ray hypoplasia-choanal atresia syndrome
Radioulnar synostosis-microcephaly-scoliosis syndrome
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
Renal caliceal diverticuli-deafness syndrome
Renal coloboma syndrome
Renal cysts and diabetes syndrome
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Ring chromosome 10
Ring chromosome 13
Scalp defects-postaxial polydactyly syndrome
Schisis association
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
Shone complex
Short fifth metacarpals-insulin resistance syndrome
Short stature, microcephaly, and endocrine dysfunction
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Sickle cell-hemoglobin E disease syndrome
Sickle cell-hemoglobin c disease syndrome
Sickle cell-hemoglobin d disease syndrome
Skeletal dysplasia-epilepsy-short stature syndrome
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Spastic ataxia-corneal dystrophy syndrome
Spastic paraparesis-cataracts-speech delay syndrome
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
Spina bifida-hypospadias syndrome
Spondylocostal dysostosis-anal and genitourinary malformations syndrome
Spondylocostal dysostosis-hypospadias-intellectual disability syndrome
Subaortic stenosis-short stature syndrome
Superior mesenteric artery syndrome
Sweet syndrome
Syndactyly-polydactyly-ear lobe syndrome
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Syndromic congenital sodium diarrhea
Syndromic microspherophakia
Syndromic orbital border hypoplasia
Syngnathia multiple anomalies
Tall stature-scoliosis-macrodactyly of the great toes syndrome
Tarsal tunnel syndrome
Tempi syndrome
Temporomandibular joint dysfunction syndrome
Temtamy preaxial brachydactyly syndrome
Tetrasomy 12p
Thalidomide embryopathy
Thoraco-abdominal enteric duplication
Thrombocytopenia-absent radius syndrome
Thyrocerebrorenal syndrome
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
Trigeminal trophic syndrome
Trigonocephaly-short stature-developmental delay syndrome
Triple-A syndrome
Trisomy X
Tubular renal disease-cardiomyopathy syndrome
Tubulointerstitial nephritis and uveitis syndrome
Ulnar hypoplasia-split foot syndrome
Ulnar-mammary syndrome
Umbilical cord ulceration-intestinal atresia syndrome
Van den Bosch syndrome
Vitamin K-antagonist embryofetopathy
Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
Weinstein kliman scully syndrome
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
Wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome
Yellow nail syndrome

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