monogenic disease +
syndrome +
skin disease +

3-M syndrome
3MC syndrome +
Aagenaes syndrome
Aarskog syndrome +
ABCD syndrome
abdominal obesity-metabolic syndrome +
ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
achalasia microcephaly syndrome
Achard syndrome
Achenbach syndrome
acrocallosal syndrome
acrocardiofacial syndrome
acrorenal syndrome
Adams-Oliver syndrome
adermatoglyphia
Adie syndrome
ADULT syndrome
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
Aicardi syndrome
Aicardi-Goutieres syndrome
Alkuraya-Kucinskas syndrome
Allan-Herndon-Dudley syndrome
alopecia, neurologic defects, and endocrinopathy syndrome
alopecia-mental retardation syndrome +
alpha-thalassemia myelodysplasia syndrome
Alport syndrome +
Alport syndrome +
Alstrom syndrome
AMED syndrome
AMME complex
ancylostomiasis
Angelman syndrome
angioedema +
anterior segment dysgenesis +
anterior spinal artery syndrome
Antley-Bixler syndrome with disordered steroidogenesis
aplasia of lacrimal and salivary glands
ARC syndrome +
autoimmune disease of skin and connective tissue +
autoimmune interstitial lung, joint, and kidney disease
autosomal dominant congenital deafness with onychodystrophy
autosomal dominant keratitis-ichthyosis-deafness syndrome
autosomal genetic disease +
Ayme-Gripp syndrome
Bainbridge-Ropers syndrome
Baraitser-Winter syndrome +
Barber-Say syndrome
Bardet-Biedl syndrome +
Barre-Lieou syndrome
Bart-Pumphrey syndrome
Bartter disease +
basal laminar drusen
basilar artery insufficiency
Beare-Stevenson cutis gyrata syndrome
Beckwith-Wiedemann syndrome
Beemer-Langer syndrome
Birk-Barel syndrome
Birt-Hogg-Dube syndrome
Bjornstad syndrome
Blau syndrome
blepharocheilodontic syndrome +
blepharophimosis, ptosis, and epicanthus inversus syndrome
blepharophimosis-impaired intellectual development syndrome
Bloom syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
Boucher-Neuhauser syndrome
Bowen-Conradi syndrome
brachycephaly, trichomegaly, and developmental delay
brachydactyly-syndactyly syndrome
brachyolmia-amelogenesis imperfecta syndrome
branchiooculofacial syndrome
branchiootic syndrome
branchiootorenal syndrome +
breast implant illness
Brooke-Spiegler syndrome
Brown-Vialetto-Van Laere syndrome +
Bruck syndrome
Brugada syndrome +
Burn-McKeown syndrome
Buschke-Ollendorff syndrome
C syndrome
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Camurati-Engelmann disease
cardiofaciocutaneous syndrome +
Carey-Fineman-Ziter syndrome
Carney complex
Carney-Stratakis syndrome
Caroli syndrome
cataract +
catecholaminergic polymorphic ventricular tachycardia +
Cauda equina syndrome
CEDNIK syndrome
cellulitis +
cercarial dermatitis
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome +
cerebellar atrophy, visual impairment, and psychomotor retardation
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
cerebellofaciodental syndrome
cerebrocostomandibular syndrome
chancroid
CHARGE syndrome
Chediak-Higashi syndrome
cherubism
CHILD syndrome
CHIME syndrome
chondrodysplasia punctata +
chondrodysplasia punctata +
chondrodysplasia-pseudohermaphroditism syndrome
chronic atrial and intestinal dysrhythmia
chronic fatigue syndrome
chronic mucocutaneous candidiasis
chronic ulcer of skin +
ciliopathy +
ciliopathy +
cleft lip-palate-ectodermal dysplasia syndrome
cleft palate, cardiac defects, and intellectual disabillity
CLOVES syndrome
COACH syndrome
Cockayne syndrome +
CODAS syndrome
coenurosis
Coffin-Lowry syndrome
Coffin-Siris syndrome +
Cohen syndrome
cold-induced sweating syndrome +
cone-rod dystrophy +
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital heart defects, hamartomas of tongue, and polysyndactyly
congenital leptin deficiency
congenital limbs-face contractures-hypotonia-developmental delay syndrome
contagious pustular dermatitis
corneal dystrophy-perceptive deafness syndrome
Cornelia de Lange syndrome +
Cornelia de Lange syndrome +
corpus callosum agenesis-abnormal genitalia syndrome
corticosteroid-binding globulin deficiency
cranioectodermal dysplasia +
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome +
craniofacial-deafness-hand syndrome
craniofrontonasal syndrome
craniolenticulosutural dysplasia
CREST syndrome
Cri-Du-Chat syndrome
Crouzon syndrome-acanthosis nigricans syndrome
Culler-Jones syndrome
Currarino syndrome
cutaneous anthrax
cutaneous candidiasis
cutaneous leishmaniasis
cutaneous lupus erythematosus +
cutaneous mastocytosis +
cutaneous porphyria
cutis laxa +
cystic fibrosis
cysticercosis
deafness, dystonia, and cerebral hypomyelination
Denys-Drash syndrome
dermatitis +
dermatomycosis +
dermatomyositis +
DeSanto-Shinawi syndrome
developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome
dialysis disequilibrium syndrome
DICER1 syndrome
diffuse infiltrative lymphocytosis syndrome
DiGeorge syndrome
dilated cardiomyopathy 1BB
dilated cardiomyopathy 1EE
dilated cardiomyopathy 1FF
dilated cardiomyopathy 1G
dilated cardiomyopathy 1GG
dilated cardiomyopathy 1H
dilated cardiomyopathy 1I
dilated cardiomyopathy 1J
dilated cardiomyopathy 1K
dilated cardiomyopathy 1L
dilated cardiomyopathy 1M
dilated cardiomyopathy 1O
dilated cardiomyopathy 1P
dilated cardiomyopathy 1Q
dilated cardiomyopathy 1T
dilated cardiomyopathy 1W
dilated cardiomyopathy 1Z
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
dioctophymiasis
dipetalonemiasis
dirofilariasis
dominant optic atrophy plus syndrome
Donnai-Barrow syndrome
Donohue syndrome
DOORS syndrome
Duane-radial ray syndrome
Dubowitz syndrome
dyskeratosis congenita +
dysplastic nevus syndrome
EAST syndrome
ectodermal dysplasia +
eczema herpeticum
EEC syndrome +
Ellis-Van Creveld syndrome
Elsahy-Waters syndrome
encephalopathy due to defective mitochondrial and peroxisomal fission 1
encephalopathy due to defective mitochondrial and peroxisomal fission 2
endocrine-cerebro-osteodysplasia syndrome
epidermal nevus
epidermolysis bullosa simplex with muscular dystrophy
erythema multiforme
erythematosquamous dermatosis
erythrokeratodermia variabilis +
erythrokeratodermia variabilis +
exanthem +
eyelid disease +
facial dermatosis
familial hemophagocytic lymphohistiocytosis 5
familial nephrotic syndrome +
familial progressive hyperpigmentation with or without hypopigmentation
Fanconi anemia complementation group F
Fanconi anemia complementation group G
Fanconi anemia complementation group J
Fanconi anemia complementation group N
Fanconi-like syndrome
Feingold syndrome
Felty's syndrome
fetal akinesia deformation sequence syndrome +
fetal akinesia deformation sequence syndrome +
fetal encasement syndrome
fetal valproate syndrome
FG syndrome
fibrogenesis imperfecta ossium
fibromyalgia
filarial elephantiasis
Filippi syndrome
Floating-Harbor syndrome
focal dermal hypoplasia
fragile X syndrome
Fraser syndrome +
Frasier syndrome
frontonasal dysplasia +
Fuchs' heterochromic uveitis
Galloway-Mowat syndrome +
Gamstorp-Wohlfart syndrome
GAPO syndrome
gene duplication disease +
geroderma osteodysplasticum
Ghosal hematodiaphyseal syndrome
Gillespie syndrome
Goldberg-Shprintzen syndrome
Goldenhar syndrome
Gorham's disease
granulomatosis with polyangiitis
growth hormone insensitivity syndrome with immune dysregulation 1
growth hormone insensitivity syndrome with immune dysregulation 2
Guttmacher syndrome
Hallermann-Streiff syndrome
Halperin-Birk syndrome
hand dermatosis
hand-foot-genital syndrome
Harel-Yoon syndrome
hemorrhoid +
Hengel-Maroofian-Schols syndrome
hepatic venoocclusive disease with immunodeficiency
hereditary alpha tryptasemia syndrome
hereditary arterial and articular multiple calcification syndrome
hereditary breast ovarian cancer syndrome
hereditary combined deficiency of vitamin K-dependent clotting factors +
hereditary desmoid disease
Hermansky-Pudlak syndrome +
high myopia-sensorineural deafness syndrome
histiocytosis-lymphadenopathy plus syndrome
holoprosencephaly +
Holt-Oram syndrome
Holzgreve-Wagner-Rehder Syndrome
hydrolethalus syndrome +
hyperferritinemia-cataract syndrome
hypertelorism, microtia, facial clefting syndrome
hypertension and brachydactyly syndrome
hypochondrogenesis
hypomelanosis of Ito
hypoparathyroidism-retardation-dysmorphism syndrome
hypophosphatasia +
hypoplastic or aplastic tibia with polydactyly
hypotonia, ataxia, and delayed development syndrome
hypotonia-cystinuria syndrome
hypotrichosis-lymphedema-telangiectasia syndrome
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
ichthyosis +
ichthyosis follicularis-alopecia-photophobia syndrome 1
IGSF1 deficiency syndrome
IMAGe syndrome
immunodeficiency-centromeric instability-facial anomalies syndrome +
inclusion body myopathy with Paget disease of bone and frontotemporal dementia +
infantile histiocytoid cardiomyopathy
infantile liver failure syndrome +
inflammatory bowel disease 1
inflammatory bowel disease 10
inflammatory bowel disease 11
inflammatory bowel disease 12
inflammatory bowel disease 13
inflammatory bowel disease 14
inflammatory bowel disease 15
inflammatory bowel disease 16
inflammatory bowel disease 17
inflammatory bowel disease 18
inflammatory bowel disease 19
inflammatory bowel disease 2
inflammatory bowel disease 20
inflammatory bowel disease 22
inflammatory bowel disease 23
inflammatory bowel disease 24
inflammatory bowel disease 26
inflammatory bowel disease 27
inflammatory bowel disease 4
inflammatory bowel disease 5
inflammatory bowel disease 6
inflammatory bowel disease 7
inflammatory bowel disease 8
inflammatory bowel disease 9
inflammatory poikiloderma with hair abnormalities and acral keratoses
intellectual developmental disorder with cardiac arrhythmia
intellectual developmental disorder with short stature and behavioral abnormalities
intellectual disability and myopathy syndrome
isolated hyperchlorhidrosis
isolated microphthalmia 4
IVIC syndrome
Jackson-Weiss syndrome
Jalili syndrome
Johanson-Blizzard syndrome
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
Kabuki syndrome
Kagami-Ogata syndrome
Kahrizi syndrome
KBG syndrome
Keipert syndrome
Kenny-Caffey syndrome +
keratosis +
Kimura disease
Kindler syndrome
KINSSHIP syndrome
Kleefstra syndrome +
Klippel-Feil syndrome +
Klippel-Trenaunay syndrome
Kohlschutter-Tonz syndrome
Koolen de Vries syndrome
LADD syndrome +
lambda 5 deficiency
large congenital melanocytic nevus
Laron syndrome
Larsen syndrome
Larsen-like syndrome B3GAT3 type
lateral meningocele syndrome
Laurence-Moon syndrome
Leber congenital amaurosis 10
Leber congenital amaurosis 3
Leber congenital amaurosis 7
Leber plus disease +
leg dermatosis
Lenz-Majewski hyperostotic dwarfism
lethal congenital contracture syndrome +
Li-Fraumeni syndrome +
lichen disease +
linear nevus sebaceous syndrome
lipomatosis +
Loeys-Dietz syndrome +
loiasis
Lown-Ganong-Levine syndrome
lymphedema-distichiasis syndrome
Lynch syndrome +
macrocephaly-autism syndrome
Maffucci syndrome
mandibulofacial dysostosis with alopecia
mandibulofacial dysostosis, Guion-Almeida type
mansonelliasis
Marinesco-Sjogren syndrome
Marshall-Smith syndrome
Marsili syndrome
Martsolf syndrome
Mayer-Rokitansky-Kuster-Hauser syndrome +
McCune Albright syndrome
McKusick-Kaufman syndrome
median arcuate ligament syndrome
MEDNIK syndrome
Meester-Loeys syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
Meier-Gorlin syndrome +
melanoma and neural system tumor syndrome
microcephaly and chorioretinopathy 1
microcephaly and chorioretinopathy 2
microcephaly and chorioretinopathy 3
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
microcephaly, growth deficiency, seizures, and brain malformations
microcephaly-micromelia syndrome
microphthalmia with limb anomalies
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Miller-Dieker lissencephaly syndrome
mismatch repair cancer syndrome
MLS syndrome +
mongolian spot
mosaic variegated aneuploidy syndrome +
Mowat-Wilson syndrome
Muckle-Wells syndrome
Mulchandani-Bhoj-Conlin syndrome
mulibrey nanism
multicentric carpotarsal osteolysis syndrome
multicentric reticulohistiocytosis
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
multiple benign circumferential skin creases on limbs +
multiple chemical sensitivity
multiple cutaneous and mucosal venous malformations
multiple endocrine neoplasia +
multiple epiphyseal dysplasia due to collagen 9 anomaly +
multiple epiphyseal dysplasia with myopia and deafness
N syndrome
nail-patella syndrome
Nance-Horan syndrome
Nasu-Hakola disease
necrobiosis lipoidica
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
Netherton syndrome
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
neurodevelopmental disorder with hypotonia and speech delay
neurooculocardiogenitourinary syndrome
nevoid basal cell carcinoma syndrome +
NFIA-related disorder
Nicolaides-Baraitser syndrome
Nijmegen breakage syndrome
nonsyndromic aplasia cutis congenita
Noonan syndrome +
Norrie disease
oculoauricular syndrome
oculocerebrorenal syndrome
oculocutaneous albinism +
oculodentodigital dysplasia
Ogden syndrome
Ohdo syndrome +
Oliver-McFarlane syndrome
Ollier disease
Opitz GBBB syndrome
orofacial cleft +
orofaciodigital syndrome +
osteogenesis imperfecta type 14
osteogenesis imperfecta type 6
osteoporosis-pseudoglioma syndrome
overactive bladder syndrome
pachyonychia congenita
Pallister-Hall syndrome
palmoplantar keratoderma-deafness syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
panniculitis +
PAPA syndrome
PCWH syndrome
peeling skin syndrome +
Pendred Syndrome
Perlman syndrome
Perrault syndrome +
Perry syndrome
persian gulf syndrome
Peters plus syndrome
PHARC syndrome
Pierson syndrome
pigmentation disease +
Pitt-Hopkins syndrome
pityriasis rubra pilaris
PLACK syndrome
plasminogen deficiency type I
poikiloderma with neutropenia
polyhydramnios, megalencephaly, and symptomatic epilepsy
popliteal pterygium syndrome
post-cardiac arrest syndrome
postaxial acrofacial dysostosis
posterior polymorphous corneal dystrophy 3
postural orthostatic tachycardia syndrome
Potocki-Shaffer syndrome
Prader-Willi syndrome
primary congenital glaucoma +
primary cutaneous amyloidosis +
primary hypertrophic osteoarthropathy
progeroid syndrome +
progressive osseous heteroplasia
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
proprotein convertase 1/3 deficiency
proteosome-associated autoinflammatory syndrome +
proximal symphalangism +
prune belly syndrome
pseudo-TORCH syndrome 1
PTEN hamartoma tumor syndrome +
Pthirus pubis infestation
Qazi Markouizos syndrome
rapadilino syndrome
RASopathy +
reactive cutaneous fibrous lesion +
renal coloboma syndrome
restrictive dermopathy +
Reye syndrome
rhabdoid tumor predisposition syndrome +
RIDDLE syndrome
Ritscher-Schinzel syndrome +
Ritscher-Schinzel syndrome +
Ritter's disease +
Roberts syndrome
Robinow syndrome +
rosacea
Rothmund-Thomson syndrome
Rubinstein-Taybi syndrome
Ruijs-Aalfs syndrome
SADDAN
salt and pepper syndrome
Sandestig-Stefanova syndrome
SAPHO syndrome
SATB2-associated syndrome
scalp dermatosis
Schaaf-Yang syndrome
Schinzel type phocomelia
schizophrenia 13
schizophrenia 14
schizophrenia 16
schizophrenia 18
schizophrenia 9
Schwartz-Jampel syndrome 1
scleredema adultorum
sebaceous gland disease +
Seckel syndrome +
Senior-Loken syndrome
septooptic dysplasia
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
SHORT syndrome
SHOX-related short stature
Shukla-Vernon syndrome
Shwachman-Diamond syndrome
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
Sjogren-Larsson syndrome
skin atrophy
skin benign neoplasm +
skin cancer +
skin carcinoma in situ
skin sarcoidosis
smallpox +
Sotos syndrome +
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
Stevens-Johnson syndrome
Stickler syndrome +
stiff skin syndrome
Stolerman neurodevelopmental syndrome
strongyloidiasis
subclavian steal syndrome
sudden infant death syndrome
sweat gland disease +
Sweeney-Cox syndrome
Sweet syndrome
syndactyly-telecanthus-anogenital and renal malformations syndrome
TANGO2-related metabolic encephalopathy and arrythmias
TARP syndrome
Teebi hypertelorism syndrome +
Temple syndrome
temtamy preaxial brachydactyly syndrome
Temtamy syndrome
terminal osseous dysplasia
tetraamelia syndrome +
thiamine-responsive megaloblastic anemia syndrome
thrombocytopenia-absent radius syndrome
Tietz syndrome
Timothy syndrome
tinea barbae
tinea corporis +
tinea manuum
tinea pedis
tooth and nail syndrome
TORCH syndrome
Townes-Brocks syndrome
Treacher Collins syndrome +
trichodontoosseous syndrome
trichohepatoenteric syndrome +
trichorhinophalangeal syndrome type I
trichorhinophalangeal syndrome type II
trichorhinophalangeal syndrome type III
trichothiodystrophy +
triple-A syndrome
tuberous sclerosis +
tyrosinemia type II
ulnar-mammary syndrome
urofacial syndrome
urticaria +
Uruguay faciocardiomusculoskeletal syndrome
Usher syndrome +
UV-sensitive syndrome
uveal coloboma-cleft lip and palate-intellectual disability
VACTERL association +
Van den Ende-Gupta syndrome
Van der Woude syndrome
Van Maldergem syndrome +
vascular skin disease
ventriculomegaly - cystic kidney disease
verruciform xanthoma of skin
vertebral anomalies and variable endocrine and T-cell dysfunction
vertebral artery insufficiency
vertebral hypersegmentation and orofacial anomalies
VEXAS syndrome
Vici syndrome
Vissers-Bodmer syndrome
Vohwinkel syndrome
Waardenburg syndrome +
Waisman syndrome
Warburg micro syndrome +
Warsaw breakage syndrome
Weaver syndrome
Weill-Marchesani syndrome
white sponge nevus +
Williams-Beuren syndrome
Winchester syndrome
Wiskott-Aldrich syndrome
Wissler-Fanconi syndrome
Wolcott-Rallison syndrome
Wolfram syndrome +
Woodhouse-Sakati syndrome
wrinkly skin syndrome
X-linked monogenic disease +
X-linked retinitis pigmentosa and sinorespiratory infections
xeroderma pigmentosum +
Y-linked monogenic disease +
yellow nail syndrome
yellow nail syndrome
Yoon-Bellen neurodevelopmental syndrome
Yunis-Varon syndrome
Zaki syndrome
Zika virus congenital syndrome
Zollinger-Ellison syndrome
ZTTK syndrome

contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B