Rare Disease Library

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

Acropectorovertebral dysplasia

F syndrome

Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent

Acute myeloid leukemia · AML

Acute myeloid leukemia and myelodysplastic syndromes related to radiation

Acute myeloid leukemia · AML

Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor

Acute myeloid leukemia · AML

Alpha-thalassemia-myelodysplastic syndrome

Acquired HbH disease · Acquired hemoglobin H disease

Antiphospholipid syndrome

Classic antiphospholipid syndrome · APLS

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Cerebellar ataxia-hypogonadism syndrome

Gordon-Holmes syndrome · Luteinizing hormone-releasing hormone deficiency with ataxia

Cholestasis-lymphedema syndrome

Aagenaes syndrome

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

CLOVES syndrome

Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome · Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome

Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

Mehes syndrome

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

Focal dermal hypoplasia

Goltz syndrome · Goltz-Gorlin syndrome

Frontofacionasal dysplasia

Gollop syndrome

GAPO syndrome

Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome

Gemignani syndrome

Spinocerebellar ataxia-amyotrophy-hearing loss syndrome · Spinocerebellar ataxia-amyotrophy-deafness syndrome

Genetic branchial arch or oral-acral syndrome

Genetic central precocious puberty

Genetic CPP

Genetic difference of sex development

Genetic DSD · Genetic disorder of sex development

Genetic interstitial lung disease

Genetic ILD

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Genetic MCA · Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)

Genetic nephrotic syndrome

Hereditary nephrotic syndrome

Genetic non-syndromic obesity

Monogenic obesity due to a leptin-melanocortin pathway anomaly

Genetic overgrowth/obesity syndrome

Genetic progeroid syndrome

Genetic syndromic Pierre Robin syndrome

Genitopatellar syndrome

Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Gerstmann syndrome

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

Gingival fibromatosis-progressive deafness syndrome

Jones syndrome · Gingival fibromatosis-progressive hearing loss syndrome

Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome

GEMSS syndrome

Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome

GLOW syndrome

GMS syndrome

Goniodysgenesis-intellectual disability-short stature syndrome

Gordon syndrome

Distal arthrogryposis type 3 · Distal arthrogryposis type IIA

Gorham-Stout disease

Gorham disease · Gorham syndrome

Gorlin syndrome

Basal cell nevus syndrome · Gorlin-Goltz syndrome

Gorlin-Chaudhry-Moss syndrome

Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome

Grange syndrome

Grange occlusive arterial syndrome · Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Grant syndrome

Grisel syndrome

Atlantoaxial non-traumatic subluxation