Path 1 |
experimental factor |
0 |
 |
material property |
0 |
 |
disposition |
0 |
 |
disease |
0 |
 |
syndromic disease |
0 |
 |
3-M syndrome |
0 |
 |
46,XX disorder of sex development-anorectal anomalies syndrome |
0 |
 |
48,XXXY syndrome |
0 |
 |
48,XXYY syndrome |
0 |
 |
48,XYYY syndrome |
0 |
 |
49,XXXXY syndrome |
0 |
 |
6q terminal deletion syndrome |
0 |
 |
8p23.1 microdeletion syndrome |
0 |
 |
ANE syndrome |
0 |
 |
Aagenaes syndrome |
0 |
 |
Abruzzo-Erickson syndrome |
0 |
 |
Achenbach syndrome |
0 |
 |
Acrootoocular syndrome |
0 |
 |
Adie syndrome |
0 |
 |
Aicardi syndrome |
0 |
 |
Al-Gazali syndrome |
0 |
 |
Alagille syndrome + |
0 |
 |
Alkuraya-Kucinskas syndrome |
0 |
 |
Alport syndrome + |
0 |
 |
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome |
0 |
 |
Alstrom syndrome |
0 |
 |
Angelman syndrome + |
0 |
 |
Armfield syndrome |
0 |
 |
Arts syndrome |
0 |
 |
Atkin-Flaitz syndrome |
0 |
 |
Axenfeld-Rieger syndrome + |
0 |
 |
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations |
0 |
 |
BNAR syndrome |
0 |
 |
BRESEK syndrome |
0 |
 |
Bamforth-Lazarus syndrome |
0 |
 |
Baraitser-Winter cerebrofrontofacial syndrome + |
0 |
 |
Bardet-Biedl syndrome + |
0 |
 |
Barre-Lieou syndrome |
0 |
 |
Bartter syndrome + |
0 |
 |
Basilicata-Akhtar syndrome |
0 |
 |
Behcet's syndrome |
0 |
 |
Bencze syndrome |
0 |
 |
Bernard-Soulier syndrome |
0 |
 |
Birt-Hogg-Dube syndrome + |
0 |
 |
Bloom syndrome |
0 |
 |
Bonnemann-Meinecke-Reich syndrome |
0 |
 |
Brachymorphism-onychodysplasia-dysphalangism syndrome |
0 |
 |
Brown-Sequard Syndrome |
0 |
 |
Bruck syndrome |
0 |
 |
Brugada syndrome + |
0 |
 |
Buschke-Ollendorff syndrome |
0 |
 |
CADDS |
0 |
 |
CEDNIK syndrome |
0 |
 |
CHARGE syndrome |
0 |
 |
CLOVES syndrome |
0 |
 |
CODAS syndrome |
0 |
 |
COG1-congenital disorder of glycosylation |
0 |
 |
COG5-congenital disorder of glycosylation |
0 |
 |
Camurati-Engelmann disease |
0 |
 |
Cardiac-urogenital syndrome |
0 |
 |
Cauda equina syndrome |
0 |
 |
Cerebrorenodigital syndrome |
0 |
 |
Char syndrome |
0 |
 |
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome |
0 |
 |
Christianson syndrome |
0 |
 |
Churg-Strauss syndrome |
0 |
 |
Coffin-Siris syndrome + |
0 |
 |
Cole-Carpenter syndrome |
0 |
 |
Cornelia de Lange syndrome |
0 |
 |
Crandall syndrome |
0 |
 |
Cri-du-chat syndrome |
0 |
 |
Crigler-Najjar syndrome + |
0 |
 |
Currarino triad |
0 |
 |
Cushing syndrome + |
0 |
 |
Czeizel-Losonci syndrome |
0 |
 |
DICER1-related tumor predisposition + |
0 |
 |
DK1-congenital disorder of glycosylation |
0 |
 |
DNA ligase IV deficiency |
0 |
 |
DOORS syndrome |
0 |
 |
Denys-Drash syndrome |
0 |
 |
Donohue syndrome |
0 |
 |
Duane retraction syndrome + |
0 |
 |
Duane-radial ray syndrome + |
0 |
 |
Dubin-Johnson syndrome |
0 |
 |
Dyggve-Melchior-Clausen disease + |
0 |
 |
EDICT syndrome |
0 |
 |
EEC syndrome + |
0 |
 |
Ehlers-Danlos syndrome + |
0 |
 |
Eisenmenger syndrome |
0 |
 |
Elsahy-Waters syndrome |
0 |
 |
Erdheim-Chester disease |
0 |
 |
Evans syndrome |
0 |
 |
FRAXF syndrome |
0 |
 |
Fanconi renotubular syndrome + |
0 |
 |
Feingold syndrome + |
0 |
 |
Felty's syndrome |
0 |
 |
Finnish type amyloidosis |
0 |
 |
Frank-Ter Haar syndrome |
0 |
 |
Fraser syndrome |
0 |
 |
Frasier syndrome |
0 |
 |
Freeman-Sheldon syndrome |
0 |
 |
Fryns syndrome |
0 |
 |
GIST-plus syndrome |
0 |
 |
GMS syndrome |
0 |
 |
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder |
0 |
 |
Galloway-Mowat syndrome + |
0 |
 |
Gamstorp-Wohlfart syndrome |
0 |
 |
German syndrome |
0 |
 |
Gilbert syndrome |
0 |
 |
Gitelman syndrome |
0 |
 |
Goldberg-Shprintzen syndrome |
0 |
 |
Greig cephalopolysyndactyly syndrome |
0 |
 |
Grubben-de Cock-Borghgraef syndrome |
0 |
 |
Guillain-Barre syndrome + |
0 |
 |
Guttmacher syndrome |
0 |
 |
HELLP syndrome |
0 |
 |
Hartsfield-Bixler-Demyer syndrome |
0 |
 |
Hennekam syndrome + |
0 |
 |
Hirschsprung disease-ganglioneuroblastoma syndrome |
0 |
 |
Hirschsprung disease-hearing loss-polydactyly syndrome |
0 |
 |
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome |
0 |
 |
Hirschsprung disease-type D brachydactyly syndrome |
0 |
 |
Holzgreve-Wagner-Rehder syndrome |
0 |
 |
Houge-Janssens syndrome + |
0 |
 |
Hurler syndrome |
0 |
 |
Hurler-Scheie syndrome |
0 |
 |
Hutchinson-Gilford progeria syndrome |
0 |
 |
Hypereosinophilic syndrome + |
0 |
 |
IFAP syndrome + |
0 |
 |
IMAGe syndrome |
0 |
 |
IRF6-related condition + |
0 |
 |
Imerslund-Grasbeck syndrome + |
0 |
 |
Jaberi-Elahi syndrome |
0 |
 |
Jacobsen syndrome |
0 |
 |
Joubert syndrome + |
0 |
 |
Joubert syndrome with ocular defect |
0 |
 |
Joubert syndrome with oculorenal defect + |
0 |
 |
KINSSHIP syndrome |
0 |
 |
Kabuki syndrome |
0 |
 |
Kallmann syndrome + |
0 |
 |
Kearns-Sayre syndrome |
0 |
 |
Kenny-Caffey syndrome + |
0 |
 |
Kleine-Levin Syndrome |
0 |
 |
Kluver-Bucy syndrome |
0 |
 |
Landau-Kleffner syndrome + |
0 |
 |
Laurence-Moon syndrome |
0 |
 |
Lennox-Gastaut syndrome + |
0 |
 |
Lenz-Majewski hyperostotic dwarfism |
0 |
 |
Lesch-Nyhan syndrome |
0 |
 |
Liberfarb syndrome |
0 |
 |
Liddle syndrome + |
0 |
 |
Loeys-Dietz syndrome + |
0 |
 |
Long-Olsen-Distelmaier syndrome |
0 |
 |
Lopes-Maciel-Rodan syndrome |
0 |
 |
Lowe-Kohn-Cohen syndrome |
0 |
 |
Lown-Ganong-Levine syndrome |
0 |
 |
Lui-Jee-Baron syndrome |
0 |
 |
Luscan-Lumish syndrome |
0 |
 |
MEDNIK syndrome |
0 |
 |
MELAS syndrome |
0 |
 |
MERRF syndrome |
0 |
 |
MIRAGE syndrome |
0 |
 |
MPI-congenital disorder of glycosylation |
0 |
 |
Marfan syndrome + |
0 |
 |
Marinesco-Sjogren syndrome |
0 |
 |
Marshall-Smith syndrome |
0 |
 |
Mauriac syndrome |
0 |
 |
Mayer-Rokitansky-Kuster-Hauser syndrome + |
0 |
 |
McCune-Albright syndrome |
0 |
 |
Meacham syndrome |
0 |
 |
Meckel syndrome + |
0 |
 |
Meier-Gorlin syndrome |
0 |
 |
Melhem-Fahl syndrome |
0 |
 |
Melkersson-Rosenthal syndrome |
0 |
 |
Menke-Hennekam syndrome 1 |
0 |
 |
Menke-Hennekam syndrome 2 |
0 |
 |
Menkes disease |
0 |
 |
Mietens syndrome |
0 |
 |
Mikati-Najjar-Sahli syndrome |
0 |
 |
Miller Fisher syndrome |
0 |
 |
Miller-Dieker lissencephaly syndrome |
0 |
 |
Mobius syndrome + |
0 |
 |
NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction + |
0 |
 |
Nager acrofacial dysostosis |
0 |
 |
Nathalie syndrome |
0 |
 |
Netherton syndrome |
0 |
 |
Neu-Laxova syndrome + |
0 |
 |
Noonan syndrome + |
0 |
 |
Noonan syndrome with multiple lentigines |
0 |
 |
Norman-Roberts syndrome |
0 |
 |
O'Donnell-Luria-Rodan syndrome |
0 |
 |
Opitz G/BBB syndrome + |
0 |
 |
PAGOD syndrome |
0 |
 |
PCWH syndrome |
0 |
 |
PEHO syndrome |
0 |
 |
PMP22-RAI1 contiguous gene duplication syndrome |
0 |
 |
Paganini-Miozzo syndrome |
0 |
 |
Pallister-Hall syndrome + |
0 |
 |
Pallister-W syndrome |
0 |
 |
Parana hard-skin syndrome |
0 |
 |
Pearson syndrome |
0 |
 |
Pendred syndrome |
0 |
 |
Perlman syndrome |
0 |
 |
Perry syndrome |
0 |
 |
Peters plus syndrome |
0 |
 |
Phelan-McDermid syndrome |
0 |
 |
Pitt-Hopkins syndrome |
0 |
 |
Poland syndrome |
0 |
 |
Potocki-Lupski syndrome |
0 |
 |
Potocki-Shaffer syndrome |
0 |
 |
Prader-Willi syndrome + |
0 |
 |
Primrose syndrome |
0 |
 |
Proteus syndrome |
0 |
 |
Qazi Markouizos syndrome |
0 |
 |
RHYNS syndrome |
0 |
 |
RNU4ATAC spectrum disorder + |
0 |
 |
Rabson-Mendenhall syndrome |
0 |
 |
Rett syndrome |
0 |
 |
Reunion island Larsen syndrome |
0 |
 |
Reye syndrome |
0 |
 |
Roberts-SC phocomelia syndrome |
0 |
 |
Robinow syndrome + |
0 |
 |
Roussy-Levy syndrome |
0 |
 |
Rubinstein Taybi like syndrome |
0 |
 |
Ruvalcaba syndrome |
0 |
 |
SCARF syndrome |
0 |
 |
SHORT syndrome |
0 |
 |
Say-Barber-Miller syndrome |
0 |
 |
Scheie syndrome |
0 |
 |
Schilbach-Rott syndrome |
0 |
 |
Schmid metaphyseal chondrodysplasia |
0 |
 |
Schwartz-Jampel syndrome + |
0 |
 |
Seckel syndrome + |
0 |
 |
Shukla-Vernon syndrome |
0 |
 |
Shwachman-Diamond syndrome |
0 |
 |
Siddiqi syndrome |
0 |
 |
Sillence syndrome |
0 |
 |
Silver-Russell syndrome + |
0 |
 |
Simpson-Golabi-Behmel syndrome + |
0 |
 |
Sjogren syndrome |
0 |
 |
Skraban-Deardorff syndrome |
0 |
 |
Snijders Blok-Campeau syndrome |
0 |
 |
Snijders Blok-Fisher syndrome |
0 |
 |
Sotos syndrome |
0 |
 |
Stankiewicz-Isidor syndrome |
0 |
 |
Stevens-Johnson syndrome |
0 |
 |
Stickler syndrome + |
0 |
 |
Stiff-Person syndrome |
0 |
 |
Susac Syndrome |
0 |
 |
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome |
0 |
 |
Takayasu arteritis |
0 |
 |
Tan-Almurshedi syndrome |
0 |
 |
Tietze syndrome |
0 |
 |
Tolosa-Hunt syndrome |
0 |
 |
Tourette syndrome |
0 |
 |
Townes-Brocks syndrome |
0 |
 |
Treacher-Collins syndrome + |
0 |
 |
Turner syndrome + |
0 |
 |
Usher syndrome + |
0 |
 |
VACTERL with hydrocephalus + |
0 |
 |
VACTERL/vater association + |
0 |
 |
Vici syndrome |
0 |
 |
Waardenburg syndrome + |
0 |
 |
Waterhouse-Friderichsen syndrome |
0 |
 |
Weaver syndrome |
0 |
 |
Weill-Marchesani syndrome + |
0 |
 |
Weiss-Kruszka syndrome |
0 |
 |
Werner syndrome |
0 |
 |
Wernicke-Korsakoff syndrome |
0 |
 |
West syndrome + |
0 |
 |
Wiedemann-Rautenstrauch syndrome |
0 |
 |
Wildervanck syndrome |
0 |
 |
Williams syndrome |
0 |
 |
Wissler's syndrome |
0 |
 |
Wolcott-Rallison syndrome |
0 |
 |
Wolf-Hirschhorn syndrome |
0 |
 |
Wolfram syndrome |
0 |
 |
X-linked central congenital hypothyroidism with late-onset testicular enlargement |
0 |
 |
X-linked corneal dermoid |
0 |
 |
X-linked dominant chondrodysplasia, Chassaing-Lacombe type |
0 |
 |
X-linked ichthyosis syndrome + |
0 |
 |
X-linked lissencephaly with abnormal genitalia |
0 |
 |
X-linked mandibulofacial dysostosis |
0 |
 |
X-linked spasticity-intellectual disability-epilepsy syndrome |
0 |
 |
XFE progeroid syndrome |
0 |
 |
Yellow Nail Syndrome |
0 |
 |
Yuksel-Vogel-Bauer syndrome |
0 |
 |
Yunis-Varon syndrome |
0 |
 |
abdominal obesity-metabolic syndrome + |
0 |
 |
ablepharon macrostomia syndrome |
0 |
 |
achalasia-alacrima syndrome |
0 |
 |
acrocallosal syndrome |
0 |
 |
acrofrontofacionasal dysostosis 2 |
0 |
 |
acute chest syndrome |
0 |
 |
acute coronary syndrome |
0 |
 |
acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
0 |
 |
acute respiratory distress syndrome + |
0 |
 |
alopecia - intellectual disability syndrome |
0 |
 |
alopecia-epilepsy-pyorrhea-intellectual disability syndrome |
0 |
 |
alpha 1-antitrypsin deficiency |
0 |
 |
alpha thalassemia-intellectual disability syndrome type 1 |
0 |
 |
alpha-thalassemia-myelodysplastic syndrome |
0 |
 |
angioosteohypertrophic syndrome |
0 |
 |
angioosteohypotrophic syndrome |
0 |
 |
aniridia - intellectual disability syndrome |
0 |
 |
aniridia-absent patella syndrome |
0 |
 |
aniridia-cerebellar ataxia-intellectual disability syndrome |
0 |
 |
aniridia-ptosis-intellectual disability-familial obesity syndrome |
0 |
 |
aniridia-renal agenesis-psychomotor retardation syndrome |
0 |
 |
ankyloblepharon filiforme adnatum-cleft palate syndrome |
0 |
 |
ankyloblepharon filiforme-imperforate anus syndrome |
0 |
 |
anophthalmia plus syndrome |
0 |
 |
anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome |
0 |
 |
anterior spinal artery syndrome |
0 |
 |
antiphospholipid syndrome |
0 |
 |
aplasia cutis congenita-intestinal lymphangiectasia syndrome |
0 |
 |
aplasia of lacrimal and salivary glands |
0 |
 |
arachnodactyly-intellectual disability-dysmorphism syndrome |
0 |
 |
arthrogryposis-renal dysfunction-cholestasis syndrome + |
0 |
 |
ataxia - telangiectasia variant |
0 |
 |
atrial septal defect, coronary sinus type |
0 |
 |
atrioventricular defect-blepharophimosis-radial and anal defect syndrome |
0 |
 |
atypical hemolytic-uremic syndrome + |
0 |
 |
autism-facial port-wine stain syndrome |
0 |
 |
autoimmune polyendocrinopathy + |
0 |
 |
autoinflammatory syndrome + |
0 |
 |
autosomal dominant cataract |
0 |
 |
autosomal dominant chondrodysplasia punctata + |
0 |
 |
autosomal dominant deafness - onychodystrophy syndrome |
0 |
 |
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
0 |
 |
autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome |
0 |
 |
autosomal recessive multiple pterygium syndrome + |
0 |
 |
axial mesodermal dysplasia spectrum |
0 |
 |
blepharophimosis - intellectual disability syndrome, SBBYS type |
0 |
 |
blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome |
0 |
 |
brachydactyly type A2 |
0 |
 |
brachydactyly-arterial hypertension syndrome |
0 |
 |
brachydactyly-nystagmus-cerebellar ataxia syndrome |
0 |
 |
brachytelephalangy-dysmorphism-Kallmann syndrome |
0 |
 |
brain abnormalities, neurodegeneration, and dysosteosclerosis |
0 |
 |
branchio-oto-renal syndrome |
0 |
 |
branchiootic syndrome |
0 |
 |
burning mouth syndrome |
0 |
 |
campomelia, Cumming type |
0 |
 |
capillary leak syndrome |
0 |
 |
carcinoid syndrome |
0 |
 |
cardioectodermal syndrome + |
0 |
 |
cardiomyopathy-cataract-hip spine disease syndrome |
0 |
 |
cat-eye syndrome |
0 |
 |
cataract - microcornea syndrome |
0 |
 |
cataract-deafness-hypogonadism syndrome |
0 |
 |
cataract-glaucoma syndrome |
0 |
 |
cataract-intellectual disability-anal atresia-urinary defects syndrome |
0 |
 |
cataract-nephropathy-encephalopathy syndrome |
0 |
 |
cataracts, hearing impairment, nephrotic syndrome, and enterocolitis + |
0 |
 |
caudal duplication |
0 |
 |
caudal regression-sirenomelia spectrum + |
0 |
 |
causalgia |
0 |
 |
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease |
0 |
 |
central hypoventilation syndrome, late-onset |
0 |
 |
central nervous system calcification-deafness-tubular acidosis-anemia syndrome |
0 |
 |
central sleep apnea syndrome + |
0 |
 |
cerebellar ataxia, intellectual disability, and dysequilibrium + |
0 |
 |
cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome |
0 |
 |
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy + |
0 |
 |
cerebrocostomandibular syndrome |
0 |
 |
channelopathy-associated congenital insensitivity to pain, autosomal recessive |
0 |
 |
choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome |
0 |
 |
chondrodysplasia + |
0 |
 |
chondrodysplasia-pseudohermaphroditism syndrome |
0 |
 |
chromosome 13q14 deletion syndrome |
0 |
 |
chromosome 16p12.1 deletion syndrome, 520kb |
0 |
 |
chromosome 18p deletion syndrome |
0 |
 |
chromosome 18q deletion syndrome |
0 |
 |
chronic atrial and intestinal dysrhythmia |
0 |
 |
chronic fatigue syndrome |
0 |
 |
circumscribed cutaneous aplasia of the vertex |
0 |
 |
cleft lip-retinopathy syndrome |
0 |
 |
cleft lip/palate-deafness-sacral lipoma syndrome |
0 |
 |
cleidocranial dysplasia 1 |
0 |
 |
cleidorhizomelic syndrome |
0 |
 |
cloacal exstrophy |
0 |
 |
cochleosaccular degeneration-cataract syndrome |
0 |
 |
compartment syndrome + |
0 |
 |
complex hereditary spastic paraplegia + |
0 |
 |
congenital cataract-ichthyosis syndrome |
0 |
 |
congenital hereditary facial paralysis-variable hearing loss syndrome |
0 |
 |
congenital ichthyosis-microcephalus-tetraplegia syndrome |
0 |
 |
congenital laryngeal web |
0 |
 |
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome |
0 |
 |
congenital myasthenic syndrome + |
0 |
 |
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome |
0 |
 |
corneal dystrophy-perceptive deafness syndrome |
0 |
 |
corneal-cerebellar syndrome |
0 |
 |
corpus callosum agenesis-abnormal genitalia syndrome |
0 |
 |
cortical blindness-intellectual disability-polydactyly syndrome |
0 |
 |
cortical dysplasia-focal epilepsy syndrome |
0 |
 |
corticobasal degeneration disorder |
0 |
 |
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome |
0 |
 |
craniofacial microsomia |
0 |
 |
craniofrontonasal syndrome |
0 |
 |
cystic fibrosis-gastritis-megaloblastic anemia syndrome |
0 |
 |
cystinuria + |
0 |
 |
de Sanctis-Cacchione syndrome |
0 |
 |
deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome |
0 |
 |
deafness-hypogonadism syndrome |
0 |
 |
deafness-infertility syndrome |
0 |
 |
deafness-intellectual disability, Martin-Probst type syndrome |
0 |
 |
deafness-lymphedema-leukemia syndrome |
0 |
 |
dermochondrocorneal dystrophy |
0 |
 |
developmental and speech delay due to SOX5 deficiency |
0 |
 |
diabetes, deafness, developmental delay, and short stature syndrome |
0 |
 |
diaphragmatic defect-limb deficiency-skull defect syndrome |
0 |
 |
diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
0 |
 |
digital anomalies-intellectual disability-short stature syndrome |
0 |
 |
dilated cardiomyopathy 1A |
0 |
 |
dilated cardiomyopathy 1E |
0 |
 |
disappearing bone disease + |
0 |
 |
distal monosomy 13q |
0 |
 |
distal trisomy 14q |
0 |
 |
diverticulosis of bowel, hernia, and retinal detachment |
0 |
 |
double uterus-hemivagina-renal agenesis syndrome |
0 |
 |
dry eye syndrome |
0 |
 |
dumping syndrome |
0 |
 |
dyschondrosteosis-nephritis syndrome |
0 |
 |
dyssegmental dysplasia-glaucoma syndrome |
0 |
 |
ectodermal dysplasia syndrome + |
0 |
 |
ectrodactyly-polydactyly syndrome |
0 |
 |
empty sella syndrome |
0 |
 |
enlarged vestibular aqueduct syndrome |
0 |
 |
epidermal nevus syndrome |
0 |
 |
epidermolysis bullosa simplex 5B, with muscular dystrophy |
0 |
 |
epiphyseal dysplasia-hearing loss-dysmorphism syndrome |
0 |
 |
ermine phenotype |
0 |
 |
euthyroid sick syndrome |
0 |
 |
even-plus syndrome |
0 |
 |
exfoliation syndrome |
0 |
 |
eyebrow duplication-syndactyly syndrome |
0 |
 |
faciodigitogenital syndrome + |
0 |
 |
familial chylomicronemia syndrome + |
0 |
 |
familial episodic pain syndrome with predominantly lower limb involvement |
0 |
 |
familial infantile bilateral striatal necrosis |
0 |
 |
familial intestinal malrotation-facial anomalies syndrome |
0 |
 |
familial long QT syndrome + |
0 |
 |
familial osteodysplasia, Anderson type |
0 |
 |
familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome |
0 |
 |
ferro-cerebro-cutaneous syndrome |
0 |
 |
fetal akinesia deformation sequence + |
0 |
 |
fetal enterovirus syndrome |
0 |
 |
fg syndrome + |
0 |
 |
fibromatosis multiple non ossifying |
0 |
 |
fibromyalgia |
0 |
 |
fibular aplasia-ectrodactyly syndrome |
0 |
 |
finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome |
0 |
 |
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome |
0 |
 |
fragile X syndrome |
0 |
 |
fragile X-associated tremor/ataxia syndrome |
0 |
 |
frontofacionasal dysplasia |
0 |
 |
genitopatellar syndrome |
0 |
 |
gingival fibromatosis-facial dysmorphism syndrome |
0 |
 |
glaucoma-sleep apnea syndrome |
0 |
 |
global developmental delay with or without impaired intellectual development |
0 |
 |
global developmental delay, progressive ataxia, and elevated glutamine |
0 |
 |
global developmental delay-osteopenia-ectodermal defect syndrome |
0 |
 |
gray platelet syndrome |
0 |
 |
growth delay-hydrocephaly-lung hypoplasia syndrome |
0 |
 |
growth hormone insensitivity syndrome + |
0 |
 |
growth retardation-mild developmental delay-chronic hepatitis syndrome |
0 |
 |
hair defect with photosensitivity and intellectual disability syndrome |
0 |
 |
hand-foot-genital syndrome |
0 |
 |
hantavirus pulmonary syndrome |
0 |
 |
hearing impairment and infertile male syndrome |
0 |
 |
hearing loss-familial salivary gland insensitivity to aldosterone syndrome |
0 |
 |
heart-hand syndrome + |
0 |
 |
hemophagocytic syndrome + |
0 |
 |
hepatic fibrosis-renal cysts-intellectual disability syndrome |
0 |
 |
hepatorenal syndrome |
0 |
 |
hereditary benign intraepithelial dyskeratosis |
0 |
 |
hereditary continuous muscle fiber activity |
0 |
 |
hereditary persistence of fetal hemoglobin-sickle cell disease syndrome |
0 |
 |
hereditary sensory and autonomic neuropathy with deafness and global delay |
0 |
 |
high myopia-sensorineural deafness syndrome |
0 |
 |
holoprosencephaly + |
0 |
 |
holoprosencephaly-postaxial polydactyly syndrome |
0 |
 |
human HOXA1 syndromes + |
0 |
 |
hydrocephalus-blue sclerae-nephropathy syndrome |
0 |
 |
hydrocephalus-obesity-hypogonadism syndrome |
0 |
 |
hydrocephaly-cerebellar agenesis syndrome |
0 |
 |
hypergonadotropic hypogonadism-cataract syndrome |
0 |
 |
hypertrichotic osteochondrodysplasia Cantu type |
0 |
 |
hypogonadism-mitral valve prolapse-intellectual disability syndrome |
0 |
 |
hypogonadotropic hypogonadism-retinitis pigmentosa syndrome |
0 |
 |
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism |
0 |
 |
hypoparathyroidism-deafness-renal disease syndrome |
0 |
 |
hypoparathyroidism-retardation-dysmorphism syndrome |
0 |
 |
hypoplastic left heart syndrome + |
0 |
 |
hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome |
0 |
 |
hypospadias-intellectual disability, Goldblatt type syndrome |
0 |
 |
hypotonia-cystinuria syndrome + |
0 |
 |
hypotrichosis-deafness syndrome |
0 |
 |
hypotrichosis-intellectual disability, Lopes type |
0 |
 |
hypotrichosis-lymphedema-telangiectasia syndrome (grouping) |
0 |
 |
ichthyosis linearis circumflexa |
0 |
 |
ichthyosis prematurity syndrome |
0 |
 |
ichthyosis-cheek-eyebrow syndrome |
0 |
 |
ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome |
0 |
 |
ichthyosis-intellectual disability-dwarfism-renal impairment syndrome |
0 |
 |
ichthyosis-oral and digital anomalies syndrome |
0 |
 |
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome |
0 |
 |
imperforate oropharynx-costo vetebral anomalies syndrome |
0 |
 |
inclusion body myopathy with Paget disease of bone and frontotemporal dementia + |
0 |
 |
infantile convulsions and choreoathetosis |
0 |
 |
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome |
0 |
 |
inflammatory bowel disease, immunodeficiency, and encephalopathy |
0 |
 |
infundibulopelvic stenosis-multicystic kidney syndrome |
0 |
 |
intellectual developmental disorder with impaired language and dysmorphic facies |
0 |
 |
intellectual developmental disorder with macrocephaly, seizures, and speech delay |
0 |
 |
intellectual developmental disorder with short stature and behavioral abnormalities |
0 |
 |
intellectual developmental disorder with speech delay, autism and dysmorphic facies |
0 |
 |
intellectual developmental disorder, autosomal recessive 72 |
0 |
 |
intellectual disability, autosomal dominant 29 |
0 |
 |
intellectual disability-cardiac anomalies-short stature-joint laxity syndrome |
0 |
 |
intellectual disability-cataracts-kyphosis syndrome |
0 |
 |
intellectual disability-epilepsy-extrapyramidal syndrome |
0 |
 |
intellectual disability-expressive aphasia-facial dysmorphism syndrome |
0 |
 |
intellectual disability-hypotonia-skin hyperpigmentation syndrome |
0 |
 |
intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome |
0 |
 |
intellectual disability-obesity-brain malformations-facial dysmorphism syndrome |
0 |
 |
intellectual disability-strabismus syndrome |
0 |
 |
iridocorneal endothelial syndrome + |
0 |
 |
irritable bowel syndrome |
0 |
 |
ischio-vertebral syndrome |
0 |
 |
jaw-winking syndrome + |
0 |
 |
joint laxity, short stature, and myopia |
0 |
 |
keratosis follicularis-dwarfism-cerebral atrophy syndrome |
0 |
 |
laryngeal abductor paralysis-intellectual disability syndrome |
0 |
 |
laryngo-onycho-cutaneous syndrome |
0 |
 |
lateral medullary syndrome |
0 |
 |
left ventricular noncompaction + |
0 |
 |
left-right axis malformations |
0 |
 |
lethal congenital contracture syndrome 1 |
0 |
 |
lethal hemolytic anemia-genital anomalies syndrome |
0 |
 |
lethal multiple pterygium syndrome + |
0 |
 |
linkeropathy + |
0 |
 |
lower limb deficiency-hypospadias syndrome |
0 |
 |
lung agenesis-heart defect-thumb anomalies syndrome |
0 |
 |
lymphedema-atrial septal defects-facial changes syndrome |
0 |
 |
lymphedema-cerebral arteriovenous anomaly syndrome |
0 |
 |
lymphedema-distichiasis syndrome |
0 |
 |
macrocephaly-short stature-paraplegia syndrome |
0 |
 |
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
0 |
 |
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome |
0 |
 |
mandibulofacial dysostosis with alopecia |
0 |
 |
megacystis-microcolon-intestinal hypoperistalsis syndrome + |
0 |
 |
megalencephaly-polydactyly syndrome |
0 |
 |
mesomelic dwarfism-cleft palate-camptodactyly syndrome |
0 |
 |
metaphyseal chondrodysplasia, Jansen type |
0 |
 |
metaphyseal chondrodysplasia-retinitis pigmentosa syndrome |
0 |
 |
metaphyseal dysostosis-intellectual disability-conductive deafness syndrome |
0 |
 |
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome |
0 |
 |
microcephalic osteodysplastic primordial dwarfism types I and III + |
0 |
 |
microcephalic primordial dwarfism due to RTTN deficiency + |
0 |
 |
microcephalic primordial dwarfism, Alazami type |
0 |
 |
microcephalic primordial dwarfism, Toriello type |
0 |
 |
microcephaly and chorioretinopathy 1 |
0 |
 |
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability |
0 |
 |
microcephaly-brachydactyly-kyphoscoliosis syndrome |
0 |
 |
microcephaly-brain defect-spasticity-hypernatremia syndrome |
0 |
 |
microcephaly-capillary malformation syndrome |
0 |
 |
microcephaly-complex motor and sensory axonal neuropathy syndrome |
0 |
 |
microcephaly-microcornea syndrome, Seemanova type |
0 |
 |
microlissencephaly-micromelia syndrome |
0 |
 |
microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome |
0 |
 |
miliaria + |
0 |
 |
mirror polydactyly-vertebral segmentation-limbs defects syndrome |
0 |
 |
mitochondrial DNA depletion syndrome 4a |
0 |
 |
mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria |
0 |
 |
mitochondrial neurogastrointestinal encephalomyopathy |
0 |
 |
monosomy 13q34 |
0 |
 |
motor developmental delay due to 14q32.2 paternally expressed gene defect + |
0 |
 |
mucopolysaccharidosis type 2 + |
0 |
 |
mucopolysaccharidosis type 3 + |
0 |
 |
mucopolysaccharidosis type 4 + |
0 |
 |
mucopolysaccharidosis type 6 + |
0 |
 |
mulibrey nanism |
0 |
 |
mullerian derivatives-lymphangiectasia-polydactyly syndrome |
0 |
 |
mullerian duct anomalies-limb anomalies syndrome |
0 |
 |
multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome |
0 |
 |
multiple sclerosis-ichthyosis-factor VIII deficiency syndrome |
0 |
 |
multiple synostoses syndrome + |
0 |
 |
muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome |
0 |
 |
muscular pseudohypertrophy-hypothyroidism syndrome |
0 |
 |
myoclonic-astatic epilepsy |
0 |
 |
myopathy-growth delay-intellectual disability-hypospadias syndrome |
0 |
 |
myotonic syndrome + |
0 |
 |
nail-patella syndrome |
0 |
 |
nasopalpebral lipoma-coloboma syndrome |
0 |
 |
neonatal aspiration syndrome + |
0 |
 |
neonatal ichthyosis-sclerosing cholangitis syndrome |
0 |
 |
neoplastic syndrome + |
0 |
 |
nephrogenic diabetes insipidus-intracranial calcification syndrome |
0 |
 |
nephronophthisis 1 |
0 |
 |
nephropathy - deafness - hyperparathyroidism syndrome |
0 |
 |
nephrosis-deafness-urinary tract-digital malformations syndrome |
0 |
 |
nephrotic syndrome + |
0 |
 |
neurodevelopmental disorder with absent language and variable seizures |
0 |
 |
neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia |
0 |
 |
neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies |
0 |
 |
neurodevelopmental disorder with macrocephaly and with or without seizures |
0 |
 |
neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures |
0 |
 |
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures |
0 |
 |
neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements |
0 |
 |
neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies |
0 |
 |
neuroleptic malignant syndrome |
0 |
 |
neurooculocardiogenitourinary syndrome |
0 |
 |
nodular neuronal heterotopia + |
0 |
 |
obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome |
0 |
 |
obstructive sleep apnea + |
0 |
 |
oculo-skeletal-renal syndrome |
0 |
 |
oculocerebrodental syndrome |
0 |
 |
oculocerebrofacial syndrome, Kaufman type |
0 |
 |
oculocerebrorenal syndrome |
0 |
 |
oculodental syndrome, Rutherfurd type |
0 |
 |
oculogastrointestinal-neurodevelopmental syndrome |
0 |
 |
oculomaxillofacial dysostosis + |
0 |
 |
olivopontocerebellar atrophy-deafness syndrome |
0 |
 |
ornithine translocase deficiency |
0 |
 |
orofaciodigital syndrome I |
0 |
 |
oromandibular-limb anomalies syndrome + |
0 |
 |
osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome |
0 |
 |
osteopenia-intellectual disability-sparse hair syndrome |
0 |
 |
osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome |
0 |
 |
osteoporosis-pseudoglioma syndrome |
0 |
 |
osteosclerosis-ichthyosis-premature ovarian failure syndrome |
0 |
 |
otopalatodigital syndrome type 1 |
0 |
 |
palindromic rheumatism |
0 |
 |
palmoplantar keratoderma-esophageal carcinoma syndrome |
0 |
 |
palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome + |
0 |
 |
pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
0 |
 |
paraneoplastic syndrome + |
0 |
 |
paraplegia-intellectual disability-hyperkeratosis syndrome |
0 |
 |
parkinsonism-dystonia, infantile + |
0 |
 |
peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome |
0 |
 |
pelvis syndrome |
0 |
 |
pentasomy X |
0 |
 |
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome |
0 |
 |
peroxisome biogenesis disorder + |
0 |
 |
persian gulf syndrome |
0 |
 |
pili torti-developmental delay-neurological abnormalities syndrome |
0 |
 |
pituitary stalk interruption syndrome |
0 |
 |
polycystic ovary syndrome |
0 |
 |
polydactyly-macrocephaly syndrome |
0 |
 |
polydactyly-myopia syndrome |
0 |
 |
polyendocrine-polyneuropathy syndrome |
0 |
 |
polymyalgia rheumatica |
0 |
 |
polyneuropathy-intellectual disability-acromicria-premature menopause syndrome |
0 |
 |
post-infectious syndrome + |
0 |
 |
postaxial acrofacial dysostosis |
0 |
 |
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome |
0 |
 |
posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome |
0 |
 |
primary ciliary dyskinesia + |
0 |
 |
primary hypergonadotropic hypogonadism-partial alopecia syndrome |
0 |
 |
primary hypertrophic osteoarthropathy + |
0 |
 |
primary microcephaly-mild intellectual disability-young-onset diabetes syndrome |
0 |
 |
progeria-short stature-pigmented nevi syndrome |
0 |
 |
progressive familial intrahepatic cholestasis + |
0 |
 |
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome |
0 |
 |
progressive supranuclear palsy + |
0 |
 |
proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome |
0 |
 |
prune belly syndrome |
0 |
 |
psoriatic arthritis + |
0 |
 |
ptosis-strabismus-ectopic pupils syndrome |
0 |
 |
ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome |
0 |
 |
ptosis-vocal cord paralysis syndrome |
0 |
 |
radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome |
0 |
 |
radioulnar synostosis-microcephaly-scoliosis syndrome |
0 |
 |
recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome |
0 |
 |
reflex sympathetic dystrophy |
0 |
 |
renal coloboma syndrome |
0 |
 |
renal cysts and diabetes syndrome |
0 |
 |
retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome |
0 |
 |
retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome |
0 |
 |
ring chromosome 10 |
0 |
 |
ring chromosome 13 |
0 |
 |
scalp defects-postaxial polydactyly syndrome |
0 |
 |
scimitar syndrome |
0 |
 |
septooptic dysplasia |
0 |
 |
severe dermatitis-multiple allergies-metabolic wasting syndrome |
0 |
 |
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency |
0 |
 |
severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion |
0 |
 |
shone complex |
0 |
 |
short fifth metacarpals-insulin resistance syndrome |
0 |
 |
short rib-polydactyly syndrome + |
0 |
 |
short stature and microcephaly with genital anomalies |
0 |
 |
short stature-deafness-neutrophil dysfunction-dysmorphism syndrome |
0 |
 |
short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |
0 |
 |
shoulder and girdle defects-familial intellectual disability syndrome |
0 |
 |
sick sinus syndrome + |
0 |
 |
sickle cell-beta-thalassemia disease syndrome |
0 |
 |
sickle cell-hemoglobin E disease syndrome |
0 |
 |
sickle cell-hemoglobin c disease syndrome |
0 |
 |
sickle cell-hemoglobin d disease syndrome |
0 |
 |
skeletal dysplasia-epilepsy-short stature syndrome |
0 |
 |
skin fragility-woolly hair-palmoplantar keratoderma syndrome |
0 |
 |
spastic ataxia-corneal dystrophy syndrome |
0 |
 |
spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome |
0 |
 |
spina bifida-hypospadias syndrome |
0 |
 |
spondylocostal dysostosis-anal and genitourinary malformations syndrome |
0 |
 |
spondylocostal dysostosis-hypospadias-intellectual disability syndrome |
0 |
 |
subaortic stenosis-short stature syndrome |
0 |
 |
subclavian steal syndrome |
0 |
 |
subcortical band heterotopia + |
0 |
 |
substance withdrawal syndrome + |
0 |
 |
sweet syndrome |
0 |
 |
syndactyly-polydactyly-ear lobe syndrome |
0 |
 |
syndactyly-telecanthus-anogenital and renal malformations syndrome |
0 |
 |
syndromic agammaglobulinemia + |
0 |
 |
syndromic congenital sodium diarrhea |
0 |
 |
syndromic craniosynostosis + |
0 |
 |
syndromic dyslipidemia + |
0 |
 |
syndromic intellectual disability + |
0 |
 |
syndromic lymphedema |
0 |
 |
syndromic microphthalmia + |
0 |
 |
syndromic oculocutaneous albinism + |
0 |
 |
syndromic orbital border hypoplasia |
0 |
 |
syndromic retinitis pigmentosa |
0 |
 |
syngnathia multiple anomalies |
0 |
 |
tall stature-scoliosis-macrodactyly of the great toes syndrome |
0 |
 |
tarsal tunnel syndrome |
0 |
 |
temtamy preaxial brachydactyly syndrome |
0 |
 |
tethered spinal cord syndrome |
0 |
 |
tetrasomy 12p |
0 |
 |
thoracic outlet syndrome + |
0 |
 |
thoraco-abdominal enteric duplication |
0 |
 |
thrombocytopenia-absent radius syndrome |
0 |
 |
thyrocerebrorenal syndrome |
0 |
 |
torticollis-keloids-cryptorchidism-renal dysplasia syndrome |
0 |
 |
trigonocephaly-short stature-developmental delay syndrome |
0 |
 |
triple-A syndrome |
0 |
 |
trisomy 13 + |
0 |
 |
trisomy 18 + |
0 |
 |
trisomy X |
0 |
 |
tubular renal disease-cardiomyopathy syndrome |
0 |
 |
type 2 collagenopathy + |
0 |
 |
ulnar hypoplasia-split foot syndrome |
0 |
 |
ulnar-mammary syndrome |
0 |
 |
umbilical cord ulceration-intestinal atresia syndrome |
0 |
 |
van den Bosch syndrome |
0 |
 |
visceral heterotaxy + |
0 |
 |
white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome |
0 |
 |
wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome |
0 |
 |
xeroderma pigmentosum-Cockayne syndrome complex + |
0 |
 |
xerosis and growth failure with immune and pulmonary dysfunction syndrome |
0 |
 |