Rare Disease Library

ATP6AP1-CDG

ATP6AP1-congenital disorder of glycosylation · ATPase H+ transporting accessory protein 1-congenital disorder of glycosylation

Atresia of urethra

Urethral atresia

Atrial appendage anomaly

Atrial auricle anomaly

Atrial septal aneurysm

Atrial septal defect-atrioventricular conduction defects syndrome

Atrial septal defect, coronary sinus type

ASD, coronary sinus type · Unroofed coronary sinus

Atrial septal defect, ostium primum type

ASD, ostium primum type

Atrial septal defect, ostium secundum type

ASD, ostium secundum type

Atrial septal defect, sinus venosus type

ASD, sinus venosus type

Atrichia with papular lesions

Papular atrichia

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome

Houlston-Ironton-Temple syndrome

Atrioventricular septal defect

AVSD · Atrioventricular canal defect

Atrioventricular valve anomaly

Atrophic lichen planus

Atrophic LP

Atrophic papulosis

Degos disease · Köhlmeier-Degos disease

Atrophoderma of Pasini and Pierini

Atrophoderma vermiculata

Folliculitis ulerythematosa reticulate

Attenuated Chédiak-Higashi syndrome

Atypical Chédiak-Higashi syndrome

Attenuated familial adenomatous polyposis

AFAP · Attenuated FAP

ATTRV122I amyloidosis

ATTRV122I-related amyloidosis

ATTRV30M amyloidosis

ATTRV30M-related amyloidosis · Hereditary ATTRV30M-related amyloidosis

Atypical autism

Atypical chronic myeloid leukemia

Subacute myeloid leukemia

Atypical dentin dysplasia due to SMOC2 deficiency

Dentin dysplasia type 1 with microdontia and shape anomalies

Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome

Atypical Gaucher disease due to saposin C deficiency

Atypical glycine encephalopathy

Atypical NKA · Atypical non-ketotic hyperglycinemia

Atypical hemolytic uremic syndrome

aHUS · atypical hemolytic uremic syndrome

Atypical hemolytic uremic syndrome with anti-factor H antibodies

aHUS · aHUS with anti-factor H antibodies

Atypical hemolytic uremic syndrome with complement gene abnormality

aHUS · aHUS with complement gene abnormality

Atypical hypotonia-cystinuria syndrome

Atypical HCS

Atypical juvenile parkinsonism

Atypical lichen myxedematosus

Intermediate lichen myxedematosus

Atypical Meigs syndrome

Atypical Demons-Meigs syndrome · Incomplete Meigs syndrome

Atypical Norrie disease due to Xp11.3 microdeletion

Atypical Norrie disease due to del(X)(p11.3) · Atypical Norrie disease due to nullisomy Xp11.3

Atypical pantothenate kinase-associated neurodegeneration

NBIA1, atypical form · Neurodegeneration with brain iron accumulation type 1, atypical form

Atypical papilloma of choroid plexus

Atypical choroid plexus papilloma · Atypical CPP

Atypical progressive supranuclear palsy syndrome

Atypical PSP syndrome

Atypical Rett syndrome

Atypical RTT · Rett syndrome variant

Atypical teratoid rhabdoid tumor

ATRT

Atypical Timothy syndrome

ATS · Atypical LQT8

Atypical Werner syndrome

Atypical progeroid syndrome

Audiogenic epilepsy

Auditory neuropathy-optic atrophy syndrome

Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome

Auriculocondylar syndrome

Question mark ear syndrome

Auriculoosteodysplasia

Aurocephalosyndactyly

Auralcephalosyndactyly · Kurczynski-Casperson syndrome