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Term:
mandibulofacial dysostosis with alopecia (EFO:MONDO:0014608)
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Parent Terms Term With Siblings Child Terms
3-M syndrome 
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 
Aagenaes syndrome 
abdominal obesity-metabolic syndrome +   
ablepharon macrostomia syndrome 
Abruzzo-Erickson syndrome 
absence deformity of leg-cataract syndrome 
absent radius-anogenital anomalies syndrome 
absent tibia-polydactyly-arachnoid cyst syndrome 
achalasia-alacrima syndrome 
acheiria +  
Achenbach syndrome 
acrocallosal syndrome 
acrodysostosis +  
acrofacial dysostosis +  
acrofrontofacionasal dysostosis 2 
acromesomelic dysplasia 2B 
Acrootoocular syndrome 
acute chest syndrome 
acute coronary syndrome  
acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 
acute respiratory distress syndrome +   
adactylia, unilateral 
adactyly of foot +  
Adams-Oliver syndrome 
Adie syndrome 
ADULT syndrome 
Aicardi syndrome 
Al-Gazali syndrome 
Alagille syndrome +  
Alkuraya-Kucinskas syndrome 
alopecia - intellectual disability syndrome 
alopecia-epilepsy-pyorrhea-intellectual disability syndrome 
alpha 1-antitrypsin deficiency 
alpha thalassemia-intellectual disability syndrome type 1 
alpha-thalassemia-myelodysplastic syndrome 
Alport syndrome +  
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 
Alstrom syndrome 
amniotic band syndrome +  
ANE syndrome 
Angelman 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 
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome +  
anophthalmia plus syndrome 
anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome 
anterior spinal artery syndrome 
antiphospholipid syndrome  
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome 
aphalangy-syndactyly-microcephaly syndrome 
aplasia cutis congenita-intestinal lymphangiectasia syndrome 
aplasia of lacrimal and salivary glands 
apodia +  
arachnodactyly-intellectual disability-dysmorphism syndrome 
Armfield syndrome 
arthrogryposis-renal dysfunction-cholestasis syndrome +  
Arts syndrome 
ataxia - telangiectasia variant 
Atkin-Flaitz syndrome 
atrial septal defect, coronary sinus type 
atrioventricular defect-blepharophimosis-radial and anal defect syndrome 
atypical hemolytic-uremic syndrome +  
autism-facial port-wine stain syndrome 
autoimmune polyendocrinopathy +  
autoinflammatory syndrome +   
autosomal dominant cataract 
autosomal dominant chondrodysplasia punctata +  
autosomal dominant deafness - onychodystrophy syndrome 
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 
autosomal recessive amelia 
autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 
autosomal recessive multiple pterygium syndrome +  
Axenfeld-Rieger syndrome +  
axial mesodermal dysplasia spectrum 
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 
Bamforth-Lazarus syndrome 
Banki syndrome 
Baraitser-Winter cerebrofrontofacial syndrome +  
Bardet-Biedl syndrome +  
Barre-Lieou syndrome 
Bartholin duct cyst 
Bartholin gland neoplasm +  
Bartter syndrome +  
Basilicata-Akhtar syndrome 
Behcet's syndrome  
Bencze syndrome 
Bernard-Soulier syndrome 
bifid nose, autosomal recessive 
bipartite talus 
Birt-Hogg-Dube syndrome +  
blepharophimosis - intellectual disability syndrome, SBBYS type 
blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome 
Bloom syndrome 
BNAR syndrome 
Bonnemann-Meinecke-Reich syndrome 
brachydactyly type A2 
brachydactyly-arterial hypertension syndrome 
brachydactyly-nystagmus-cerebellar ataxia syndrome 
Brachymorphism-onychodysplasia-dysphalangism syndrome 
brachytelephalangy-dysmorphism-Kallmann syndrome 
brain abnormalities, neurodegeneration, and dysosteosclerosis 
branchio-oto-renal syndrome 
branchiootic syndrome 
breast fibrocystic disease +   
breast neoplasm +   
BRESEK syndrome 
Brown-Sequard Syndrome 
Bruck syndrome 
Brugada syndrome +   
burning mouth syndrome 
Buschke-Ollendorff syndrome 
CADDS 
campomelia, Cumming type 
camptodactyly syndrome, Guadalajara type 2 
Camurati-Engelmann disease 
capillary leak syndrome 
carcinoid syndrome 
Cardiac-urogenital syndrome 
cardioectodermal syndrome +  
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 
cataracts, hearing impairment, nephrotic syndrome, and enterocolitis +  
Cauda equina syndrome 
caudal duplication 
caudal regression-sirenomelia spectrum +  
causalgia 
CEDNIK syndrome 
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 
central hypoventilation syndrome, late-onset 
central nervous system calcification-deafness-tubular acidosis-anemia syndrome 
central sleep apnea syndrome +  
cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 
cerebellar ataxia, intellectual disability, and dysequilibrium +  
cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome 
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy +  
cerebrocostomandibular syndrome 
Cerebrorenodigital syndrome 
channelopathy-associated congenital insensitivity to pain, autosomal recessive 
Char syndrome 
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome 
CHARGE syndrome 
choanal atresia 
choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 
chondrodysplasia +  
chondrodysplasia-pseudohermaphroditism syndrome 
Christianson syndrome 
chromosome 13q14 deletion syndrome 
chromosome 16p12.1 deletion syndrome, 520kb 
chromosome 18p deletion syndrome 
chromosome 18q deletion syndrome 
chronic atrial and intestinal dysrhythmia 
chronic fatigue syndrome  
Churg-Strauss syndrome  
circumscribed cutaneous aplasia of the vertex 
cleft lip-retinopathy syndrome 
cleft lip/palate-deafness-sacral lipoma syndrome 
cleidocranial dysplasia 1 
cleidorhizomelic syndrome 
cloacal exstrophy 
CLOVES syndrome 
cochleosaccular degeneration-cataract syndrome 
CODAS syndrome 
Coffin-Siris syndrome +  
COG1-congenital disorder of glycosylation 
COG5-congenital disorder of glycosylation 
Cole-Carpenter syndrome 
compartment syndrome +  
complex hereditary spastic paraplegia +  
congenital absence of both forearm and hand +  
congenital absence of both lower leg and foot +  
congenital absence of thigh and lower leg with foot present +  
congenital absence of upper arm and forearm with hand present 
congenital cataract-ichthyosis syndrome 
congenital hereditary facial paralysis-variable hearing loss syndrome 
congenital ichthyosis-microcephalus-tetraplegia syndrome 
congenital laryngeal web 
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 
congenital myasthenic syndrome +  
congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 
congenital pseudoarthrosis of clavicle 
congenital pseudoarthrosis of the limbs +  
congenital radioulnar synostosis +  
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 
Cooks syndrome 
corneal dystrophy-perceptive deafness syndrome 
corneal-cerebellar syndrome 
Cornelia de Lange syndrome 
corpus callosum agenesis-abnormal genitalia syndrome 
cortical blindness-intellectual disability-polydactyly syndrome 
cortical dysplasia-focal epilepsy syndrome 
corticobasal degeneration disorder  
Crandall syndrome 
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 
craniofacial microsomia  
craniofrontonasal syndrome 
craniosynostosis +   
Cri-du-chat syndrome 
Crigler-Najjar syndrome +  
Currarino triad 
Cushing syndrome +  
cutaneous mycosis +   
cutis laxa +  
cystic fibrosis-gastritis-megaloblastic anemia syndrome 
cystinuria +  
Czeizel-Losonci 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 
Denys-Drash syndrome 
dermochondrocorneal dystrophy 
developmental and speech delay due to SOX5 deficiency 
diabetes, deafness, developmental delay, and short stature syndrome 
diaphragmatic defect-limb deficiency-skull defect syndrome 
DICER1-related tumor predisposition +  
diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 
digital anomalies-intellectual disability-short stature syndrome 
dilated cardiomyopathy 1A 
dilated cardiomyopathy 1E 
disappearing bone disease +  
disorder of pilosebaceous unit +   
distal monosomy 13q 
distal trisomy 14q 
diverticulosis of bowel, hernia, and retinal detachment 
DK1-congenital disorder of glycosylation 
DNA ligase IV deficiency 
Donohue syndrome 
DOORS syndrome 
double uterus-hemivagina-renal agenesis syndrome 
dry eye syndrome  
Duane retraction syndrome +  
Duane-radial ray syndrome +  
Dubin-Johnson syndrome 
dumping syndrome 
Dyggve-Melchior-Clausen disease +  
dyschondrosteosis-nephritis syndrome 
dysostosis multiplex, Ain-Naz type 
dyssegmental dysplasia-glaucoma syndrome 
ectodermal dysplasia syndrome +   
ectrodactyly-polydactyly syndrome 
EDICT syndrome 
EEC syndrome +  
EEM syndrome 
Ehlers-Danlos syndrome +  
Eisenmenger syndrome 
Elsahy-Waters syndrome 
empty sella syndrome 
enlarged vestibular aqueduct syndrome 
epidermal nevus syndrome 
epidermolysis bullosa simplex 5B, with muscular dystrophy 
epiphyseal dysplasia-hearing loss-dysmorphism syndrome 
Erdheim-Chester disease 
ermine phenotype 
euthyroid sick syndrome 
Evans syndrome 
even-plus syndrome 
exfoliation syndrome  
eyebrow duplication-syndactyly syndrome 
faciodigitogenital syndrome +  
familial atypical multiple mole melanoma syndrome 
familial chylomicronemia syndrome +   
familial congenital nasolacrimal duct obstruction 
familial episodic pain syndrome with predominantly lower limb involvement 
familial infantile bilateral striatal necrosis 
familial intestinal malrotation-facial anomalies syndrome 
familial long QT syndrome +   
familial osteodysplasia, Anderson type 
familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome 
familial thyroglossal duct cyst 
familial tumoral calcinosis +  
Fanconi renotubular syndrome +  
Feingold syndrome +  
Felty's syndrome 
femoral agenesis/hypoplasia +  
femoral-facial syndrome 
femur-fibula-ulna complex 
ferro-cerebro-cutaneous syndrome 
fetal akinesia deformation sequence +  
fetal enterovirus syndrome 
fg syndrome +  
fibromatosis multiple non ossifying 
fibromyalgia 
fibular aplasia-ectrodactyly syndrome 
finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome 
Finnish type amyloidosis 
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 
fragile X syndrome  
fragile X-associated tremor/ataxia syndrome 
Frank-Ter Haar syndrome 
Fraser syndrome 
Frasier syndrome 
FRAXF syndrome 
Freeman-Sheldon syndrome 
frontofacionasal dysplasia 
frontonasal dysplasia +  
frontonasal dysplasia with alopecia and genital anomaly 
Fryns syndrome 
Fuhrmann syndrome 
Galloway-Mowat syndrome +  
Gamstorp-Wohlfart syndrome 
genitopatellar syndrome 
German syndrome 
Gilbert syndrome 
gingival fibromatosis-facial dysmorphism syndrome 
GIST-plus syndrome 
Gitelman syndrome 
glaucoma-sleep apnea syndrome 
global developmental delay with or without impaired intellectual development 
global developmental delay, progressive ataxia, and elevated glutamine 
global developmental delay-osteopenia-ectodermal defect syndrome 
GMS syndrome 
Goldberg-Shprintzen syndrome 
Gollop-Wolfgang complex 
gray platelet syndrome 
Greig cephalopolysyndactyly syndrome 
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder 
growth delay-hydrocephaly-lung hypoplasia syndrome 
growth hormone insensitivity syndrome +  
growth retardation-mild developmental delay-chronic hepatitis syndrome 
Grubben-de Cock-Borghgraef syndrome 
Guillain-Barre syndrome +  
Guttmacher syndrome 
hair defect with photosensitivity and intellectual disability syndrome 
hand-foot-genital syndrome 
hantavirus pulmonary syndrome 
Hartsfield-Bixler-Demyer syndrome 
hearing impairment and infertile male syndrome 
hearing loss-familial salivary gland insensitivity to aldosterone syndrome 
heart-hand syndrome +  
HELLP syndrome 
hemimelia +  
hemophagocytic syndrome +  
Hennekam syndrome +  
hepatic fibrosis-renal cysts-intellectual disability syndrome 
hepatorenal 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 
hereditary thrombocytosis with transverse limb defect 
high myopia-sensorineural deafness syndrome 
Hirschsprung disease-ganglioneuroblastoma syndrome 
Hirschsprung disease-hearing loss-polydactyly syndrome 
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome 
Hirschsprung disease-type D brachydactyly syndrome 
holoprosencephaly +  
holoprosencephaly-postaxial polydactyly syndrome 
Holzgreve-Wagner-Rehder syndrome 
Houge-Janssens syndrome +  
human HOXA1 syndromes +  
humero-radio-ulnar synostosis +  
humero-ulnar synostosis +  
humeroradial synostosis +  
humerus trochlea aplasia 
Hurler syndrome 
Hurler-Scheie syndrome 
Hutchinson-Gilford progeria syndrome 
hydrocephalus-blue sclerae-nephropathy syndrome 
hydrocephalus-obesity-hypogonadism syndrome 
hydrocephaly-cerebellar agenesis syndrome 
Hypereosinophilic syndrome +  
hypergonadotropic hypogonadism-cataract syndrome 
hyperphalangy +  
hypertrichotic osteochondrodysplasia Cantu type 
hypogonadism-mitral valve prolapse-intellectual disability syndrome 
hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 
hypoparathyroidism-deafness-renal disease syndrome 
hypoparathyroidism-retardation-dysmorphism syndrome 
hypoplastic left heart syndrome +  
hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome 
hypospadias-intellectual disability, Goldblatt type syndrome 
hypotonia-cystinuria syndrome +  
hypotrichosis-deafness syndrome 
hypotrichosis-intellectual disability, Lopes type 
hypotrichosis-lymphedema-telangiectasia syndrome (grouping) 
ichthyosis linearis circumflexa 
ichthyosis prematurity syndrome 
ichthyosis-cheek-eyebrow syndrome 
ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome 
ichthyosis-intellectual disability-dwarfism-renal impairment syndrome 
ichthyosis-oral and digital anomalies syndrome 
IFAP syndrome +  
IMAGe syndrome 
Imerslund-Grasbeck syndrome +  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 
imperforate oropharynx-costo vetebral anomalies syndrome 
inclusion body myopathy with Paget disease of bone and frontotemporal dementia +  
infantile convulsions and choreoathetosis 
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 
inflammatory bowel disease, immunodeficiency, and encephalopathy 
infundibulopelvic stenosis-multicystic kidney syndrome 
integumentary system benign neoplasm +   
integumentary system cancer +   
intellectual developmental disorder with impaired language and dysmorphic facies 
intellectual developmental disorder with macrocephaly, seizures, and speech delay 
intellectual developmental disorder with short stature and behavioral abnormalities 
intellectual developmental disorder with speech delay, autism and dysmorphic facies 
intellectual developmental disorder, autosomal recessive 72 
intellectual disability, autosomal dominant 29 
intellectual disability-brachydactyly-Pierre Robin syndrome 
intellectual disability-cardiac anomalies-short stature-joint laxity syndrome 
intellectual disability-cataracts-kyphosis syndrome 
intellectual disability-epilepsy-extrapyramidal syndrome 
intellectual disability-expressive aphasia-facial dysmorphism syndrome 
intellectual disability-hypotonia-skin hyperpigmentation syndrome 
intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome 
intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 
intellectual disability-spasticity-ectrodactyly syndrome 
intellectual disability-strabismus syndrome 
IRF6-related condition +  
iridocorneal endothelial syndrome +  
irritable bowel syndrome  
ischio-vertebral syndrome 
IVIC syndrome 
Jaberi-Elahi syndrome 
Jacobsen syndrome 
jaw-winking syndrome +  
joint laxity, short stature, and myopia 
Joubert syndrome +  
Joubert syndrome with ocular defect 
Joubert syndrome with oculorenal defect +  
Kabuki syndrome 
Kallmann syndrome +  
Karsch-Neugebauer syndrome 
Kearns-Sayre syndrome 
Kenny-Caffey syndrome +  
keratinization disease +   
keratoderma hereditarium mutilans 
keratosis follicularis-dwarfism-cerebral atrophy syndrome 
KINSSHIP syndrome 
Kleine-Levin Syndrome 
Kluver-Bucy syndrome 
Landau-Kleffner syndrome +  
laryngeal abductor paralysis-intellectual disability syndrome 
laryngo-onycho-cutaneous syndrome 
lateral medullary syndrome 
Laurence-Moon syndrome 
left ventricular noncompaction +  
left-right axis malformations 
Lennox-Gastaut syndrome +  
Lenz-Majewski hyperostotic dwarfism 
Lesch-Nyhan syndrome 
lethal congenital contracture syndrome 1 
lethal faciocardiomelic dysplasia 
lethal hemolytic anemia-genital anomalies syndrome 
lethal multiple pterygium syndrome +  
Liberfarb syndrome 
Liddle syndrome +  
limb transversal defect-cardiac anomaly syndrome 
linkeropathy +  
Loeys-Dietz syndrome +  
Long-Olsen-Distelmaier syndrome 
Lopes-Maciel-Rodan syndrome 
Lowe-Kohn-Cohen syndrome 
lower limb deficiency-hypospadias syndrome 
Lown-Ganong-Levine syndrome 
Lui-Jee-Baron syndrome 
lung agenesis-heart defect-thumb anomalies syndrome 
Luscan-Lumish syndrome 
lymphedema-atrial septal defects-facial changes syndrome 
lymphedema-cerebral arteriovenous anomaly syndrome 
lymphedema-distichiasis syndrome 
macrocephaly-short stature-paraplegia syndrome 
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 
mammary-digital-nail syndrome 
mandibulofacial dysostosis with alopecia 
A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.
mandibulofacial dysostosis-macroblepharon-macrostomia syndrome 
Marfan syndrome +  
Marinesco-Sjogren syndrome 
Marshall-Smith syndrome 
Mauriac syndrome 
Mayer-Rokitansky-Kuster-Hauser syndrome +  
McCune-Albright syndrome 
Meacham syndrome 
Meckel syndrome +  
MEDNIK syndrome 
megacystis-microcolon-intestinal hypoperistalsis syndrome +  
megalencephaly-polydactyly syndrome 
Meier-Gorlin syndrome 
MELAS syndrome 
Melhem-Fahl syndrome 
Melkersson-Rosenthal syndrome 
Meniere disease  
Menke-Hennekam syndrome 1 
Menke-Hennekam syndrome 2 
Menkes disease 
MERRF syndrome 
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 
microcephalic osteodysplastic primordial dwarfism types I and III +  
microcephalic primordial dwarfism due to RTTN deficiency +  
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-microcornea syndrome, Seemanova type 
microlissencephaly-micromelia syndrome 
microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome 
Mietens syndrome 
Mikati-Najjar-Sahli syndrome 
miliaria +  
Miller Fisher syndrome 
Miller-Dieker lissencephaly syndrome 
MIRAGE syndrome 
mirror polydactyly-vertebral segmentation-limbs defects syndrome 
mitochondrial DNA depletion syndrome 4a 
mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 
mitochondrial neurogastrointestinal encephalomyopathy 
Mobius syndrome +  
monosomy 13q34 
motor developmental delay due to 14q32.2 paternally expressed gene defect +  
MPI-congenital disorder of glycosylation 
mucopolysaccharidosis type 2 +  
mucopolysaccharidosis type 3 +  
mucopolysaccharidosis type 4 +  
mucopolysaccharidosis type 6 +  
mucosulfatidosis 
mulibrey nanism 
mullerian derivatives-lymphangiectasia-polydactyly syndrome 
mullerian duct anomalies-limb anomalies syndrome 
multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 
multiple sclerosis-ichthyosis-factor VIII deficiency syndrome 
multiple synostoses syndrome +  
muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome 
muscular pseudohypertrophy-hypothyroidism syndrome 
myoclonic-astatic epilepsy 
myopathy-growth delay-intellectual disability-hypospadias syndrome 
myotonic syndrome +  
Nager acrofacial dysostosis 
nail disorder +   
nail-patella syndrome 
nasopalpebral lipoma-coloboma syndrome 
Nathalie syndrome 
neonatal aspiration syndrome +  
neonatal ichthyosis-sclerosing cholangitis syndrome 
neoplastic syndrome +   
nephrogenic diabetes insipidus-intracranial calcification syndrome 
nephronophthisis 1 
nephropathy - deafness - hyperparathyroidism syndrome 
nephrosis-deafness-urinary tract-digital malformations syndrome 
nephrotic syndrome +   
Netherton syndrome 
Neu-Laxova syndrome +  
neurodevelopmental disorder with absent language and variable seizures 
neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 
neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 
neurodevelopmental disorder with macrocephaly and with or without seizures 
neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures 
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 
neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements 
neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome +  
neuroleptic malignant syndrome 
neurooculocardiogenitourinary syndrome 
NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction +  
nodular neuronal heterotopia +  
non-syndromic amelia +  
Noonan syndrome +  
Noonan syndrome with multiple lentigines 
Norman-Roberts syndrome 
O'Donnell-Luria-Rodan syndrome 
obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome 
obstructive sleep apnea +   
oculo-skeletal-renal syndrome 
oculoauriculovertebral spectrum with radial defects +   
oculocerebrodental syndrome 
oculocerebrofacial syndrome, Kaufman type 
oculocerebrorenal syndrome 
oculodental syndrome, Rutherfurd type 
oculogastrointestinal-neurodevelopmental syndrome 
oculomaxillofacial dysostosis +  
olivopontocerebellar atrophy-deafness syndrome 
Opitz G/BBB syndrome +  
ornithine translocase deficiency 
orofaciodigital syndrome I 
oromandibular-limb anomalies syndrome +  
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 
otofaciocervical syndrome 
otopalatodigital syndrome type 1 
otosclerosis  
Paganini-Miozzo syndrome 
PAGOD syndrome 
palindromic rheumatism 
Pallister-Hall syndrome +  
Pallister-W syndrome 
palmoplantar keratoderma-esophageal carcinoma syndrome 
palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome +  
pancreatic hypoplasia-diabetes-congenital heart disease syndrome 
Parana hard-skin syndrome 
paraneoplastic cutaneous syndrome +  
paraneoplastic syndrome +  
paraplegia-intellectual disability-hyperkeratosis syndrome 
parkinsonism-dystonia, infantile +  
patella aplasia/hypoplasia +  
PCWH syndrome 
Pearson syndrome 
peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 
PEHO syndrome 
pelvic dysplasia-arthrogryposis of lower limbs syndrome 
pelvis syndrome 
pelvis-shoulder dysplasia 
pelviscapular dysplasia 
Pendred syndrome 
pentasomy X 
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 
Perlman syndrome 
peroxisome biogenesis disorder +  
Perry syndrome 
persian gulf syndrome 
Peters plus syndrome 
Phelan-McDermid syndrome 
phocomelia, Schinzel type 
phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome 
pili torti-developmental delay-neurological abnormalities syndrome 
Pitt-Hopkins syndrome 
pituitary stalk interruption syndrome 
PMP22-RAI1 contiguous gene duplication syndrome 
Poland syndrome 
polycystic ovary syndrome  
polydactyly-macrocephaly syndrome 
polydactyly-myopia syndrome 
polyendocrine-polyneuropathy syndrome 
polymyalgia rheumatica 
polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 
post-infectious syndrome +   
postaxial acrofacial dysostosis 
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 
postaxial tetramelic oligodactyly 
posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome 
Potocki-Lupski syndrome 
Potocki-Shaffer syndrome 
Prader-Willi syndrome +  
Prata-Liberal-Goncalves syndrome 
primary ciliary dyskinesia +  
primary hypergonadotropic hypogonadism-partial alopecia syndrome 
primary hypertrophic osteoarthropathy +  
primary microcephaly-mild intellectual disability-young-onset diabetes syndrome 
Primrose syndrome 
progeria-short stature-pigmented nevi syndrome 
progressive familial intrahepatic cholestasis +  
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 
progressive non-infectious anterior vertebral fusion 
progressive supranuclear palsy +   
Proteus syndrome 
Proteus-like syndrome 
proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome 
prune belly syndrome 
pseudoxanthoma elasticum (inherited or acquired) +  
psoriatic arthritis +   
ptosis-strabismus-ectopic pupils syndrome 
ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome 
ptosis-vocal cord paralysis syndrome 
Qazi Markouizos syndrome 
Rabson-Mendenhall syndrome 
radial deficiency-tibial hypoplasia syndrome 
radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome 
radio-renal syndrome 
radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 
radioulnar synostosis-microcephaly-scoliosis syndrome 
rapadilino syndrome 
recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome 
reflex sympathetic dystrophy 
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 
Rett syndrome 
Reunion island Larsen syndrome 
Reye syndrome 
RHYNS syndrome 
ring chromosome 10 
ring chromosome 13 
RNU4ATAC spectrum disorder +  
Roberts-SC phocomelia syndrome 
Robinow syndrome +  
Rombo syndrome 
Roussy-Levy syndrome 
Rubinstein Taybi like syndrome 
Rubinstein-Taybi syndrome +  
Ruvalcaba syndrome 
Say-Barber-Miller syndrome 
scalp defects-postaxial polydactyly syndrome 
SCARF syndrome 
Scheie syndrome 
Schilbach-Rott syndrome 
Schmid metaphyseal chondrodysplasia 
Schwartz-Jampel syndrome +  
scimitar syndrome 
Seckel syndrome +  
septooptic dysplasia 
severe dermatitis-multiple allergies-metabolic wasting syndrome 
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency 
severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion 
shone complex 
short fifth metacarpals-insulin resistance syndrome 
short rib-polydactyly syndrome +  
short stature and microcephaly with genital anomalies 
short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 
short stature-deafness-neutrophil dysfunction-dysmorphism syndrome 
short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 
SHORT syndrome 
shoulder and girdle defects-familial intellectual disability syndrome 
shoulder and thorax deformity-congenital heart disease syndrome 
Shukla-Vernon syndrome 
Shwachman-Diamond syndrome 
sick sinus syndrome +   
sickle cell-beta-thalassemia disease syndrome 
sickle cell-hemoglobin c disease syndrome 
sickle cell-hemoglobin d disease syndrome 
sickle cell-hemoglobin E disease syndrome 
Siddiqi syndrome 
Sillence syndrome 
Silver-Russell syndrome +  
Simpson-Golabi-Behmel syndrome +  
Sjogren syndrome  
Sjogren-Larsson syndrome 
skeletal dysplasia-epilepsy-short stature syndrome 
skin appendage disorder +   
skin disease +   
skin fragility-woolly hair-palmoplantar keratoderma syndrome 
Skraban-Deardorff syndrome 
Snijders Blok-Campeau syndrome 
Snijders Blok-Fisher syndrome 
Sotos syndrome 
spastic ataxia-corneal dystrophy syndrome 
spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 
spina bifida-hypospadias syndrome 
splenogonadal fusion-limb defects-micrognathia syndrome 
split foot +  
split hand +  
split hand or/and split foot malformation 
split hand-foot malformation +  
split hand-foot malformation 1 with sensorineural hearing loss 
split-foot malformation-mesoaxial polydactyly syndrome 
spondylocostal dysostosis +  
spondylocostal dysostosis-anal and genitourinary malformations syndrome 
spondylocostal dysostosis-hypospadias-intellectual disability syndrome 
Stankiewicz-Isidor syndrome 
Stevens-Johnson syndrome  
Stickler syndrome +  
Stiff-Person syndrome 
subaortic stenosis-short stature syndrome 
subclavian steal syndrome 
subcortical band heterotopia +  
subcutaneous tissue disorder +   
substance withdrawal syndrome +   
Susac Syndrome 
sweet syndrome 
syndactyly-polydactyly-ear lobe syndrome 
syndactyly-telecanthus-anogenital and renal malformations syndrome 
syndromic agammaglobulinemia +   
syndromic congenital sodium diarrhea 
syndromic craniosynostosis +  
syndromic dyslipidemia +   
syndromic intellectual disability +  
syndromic lymphedema 
syndromic microphthalmia +  
syndromic oculocutaneous albinism +  
syndromic orbital border hypoplasia 
syndromic retinitis pigmentosa 
syngnathia multiple anomalies 
Takayasu arteritis  
tall stature-scoliosis-macrodactyly of the great toes syndrome 
Tan-Almurshedi syndrome 
tarsal tunnel syndrome 
temtamy preaxial brachydactyly syndrome 
tethered spinal cord syndrome 
tetraamelia-multiple malformations syndrome 
tetramelic monodactyly 
tetrasomy 12p 
thoracic outlet syndrome +  
thoraco-abdominal enteric duplication 
thrombocytopenia-absent radius syndrome 
thyrocerebrorenal syndrome 
tibia, hypoplasia or aplasia of, with polydactyly 
tibial aplasia-ectrodactyly syndrome +  
tibio-fibular synostosis 
Tietze syndrome  
Tolosa-Hunt syndrome 
tonsillar lymphoma 
torticollis-keloids-cryptorchidism-renal dysplasia syndrome 
Tourette syndrome  
Townes-Brocks syndrome 
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome 
Treacher-Collins syndrome +  
trigonocephaly +  
trigonocephaly-short stature-developmental delay syndrome 
triple-A syndrome 
trisomy 13 +  
trisomy 18 +  
trisomy X 
tubular renal disease-cardiomyopathy syndrome 
Turner syndrome +  
type 2 collagenopathy +  
ulna hypoplasia-intellectual disability syndrome 
ulnar hypoplasia-split foot syndrome 
ulnar-mammary syndrome 
umbilical cord ulceration-intestinal atresia syndrome 
Usher syndrome +  
VACTERL with hydrocephalus +  
VACTERL/vater association +  
van den Bosch syndrome 
Vici syndrome 
visceral heterotaxy +  
Waardenburg syndrome +  
Waterhouse-Friderichsen syndrome 
Weaver syndrome 
Weill-Marchesani syndrome +  
Weiss-Kruszka syndrome 
Werner syndrome 
Wernicke-Korsakoff syndrome 
West syndrome +  
white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 
Wiedemann-Rautenstrauch syndrome 
Wildervanck syndrome 
Williams syndrome 
Wissler's syndrome 
Wolcott-Rallison syndrome 
Wolf-Hirschhorn syndrome 
Wolfram syndrome 
wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome 
X-linked central congenital hypothyroidism with late-onset testicular enlargement 
X-linked corneal dermoid 
X-linked dominant chondrodysplasia, Chassaing-Lacombe type 
X-linked ichthyosis syndrome +  
X-linked lissencephaly with abnormal genitalia 
X-linked mandibulofacial dysostosis 
X-linked mixed hearing loss with perilymphatic gusher 
X-linked spasticity-intellectual disability-epilepsy syndrome 
xeroderma pigmentosum-Cockayne syndrome complex +  
xerosis and growth failure with immune and pulmonary dysfunction syndrome 
XFE progeroid syndrome 
Yellow Nail Syndrome 
Yuksel-Vogel-Bauer syndrome 
Yunis-Varon syndrome 

Synonyms
Exact Synonyms: DOID:0060365 ;   MFDA ;   Orphanet:443995 ;   http://identifiers.org/medgen/898794 ;   http://linkedlifedata.com/resource/umls/id/C4225349 ;   https://omim.org/entry/616367
Alternate IDs: MONDO:0014608
Xrefs: DOID:0060365 ;   GARD:17758 ;   MEDGEN:898794 ;   MIM:616367 ;   ORDO:443995 ;   UMLS:C4225349
Definition Sources: DOID:0060365, PMID:25772936

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