Rare Disease Library

Robinow-like syndrome

Saal-Greenstein syndrome

Epstein syndrome

Alport syndrome with macrothrombocytopenia

GAPO syndrome

Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

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

GLOW syndrome

GMS syndrome

Goniodysgenesis-intellectual disability-short stature 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

GRACILE syndrome

Fellman disease · Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death 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

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

Holoprosencephaly-radial heart renal anomalies syndrome

Steinfeld syndrome

Laurin-Sandrow syndrome

Mirror hands and feets-nasal defects syndrome · Sandrow syndrome

Lichtenstein syndrome

LUMBAR syndrome

PELVIS syndrome · Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome

Oculogastrointestinal-neurodevelopmental syndrome

OGIN Syndrome

Onycho-tricho-dysplasia-neutropenia syndrome

Itin syndrome · ONMR syndrome

PENS syndrome

Papular epidermal nevi with skyline basal cell layers syndrome

Progressive autosomal recessive ataxia-deafness syndrome

Lichtenstein-Knorr syndrome · Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome

Pseudohypoaldosteronism type 2

Chloride shunt syndrome · Familial hyperkalemic hypertension

Rauch-Steindl syndrome

NSD2-related syndrome

Rubinstein-Taybi syndrome

Broad thumb-hallux syndrome · Broad thumbs-halluces syndrome

SAPHO syndrome

Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome

SAMS syndrome

Steel syndrome

Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome

Thymoma-hypogammaglobulinemia syndrome

Good syndrome