Rare Disease Library

OBSOLETE: Sucking/swallowing disorder associated with basal ganglia anomalies

OBSOLETE: X-linked acrogigantism due to a point mutation

OBSOLETE: Familial infantile gigantism due to a point mutation · OBSOLETE: X-LAG (X-linked acrogigantism) due to a point mutation

OBSOLETE: X-linked acrogigantism due to Xq26 microduplication

OBSOLETE: X-LAG due to dup(X)q(26) · OBSOLETE: Familial infantile gigantism due to dup(X)q(26)

Ocular motor apraxia, Cogan type

Oculomotor apraxia, Cogan type

Oligomeganephronia

Oligomeganephronic renal hypoplasia

Organic aciduria

Paraneoplastic sensory ganglionopathy

Paraneoplastic sensory neuronopathy

Pituitary gigantism

Hypophyseal gigantism · Infantile and juvenile forms of acromegaly

Primary bone dysplasia with disorganized development of skeletal components

Primary osteodysplasia with disorganized development of skeletal components · Primary skeletal dysplasia with disorganized development of skeletal components

Primary organ-specific lymphoma

Pustular pyoderma gangrenosum

Pyoderma gangrenosum

Rare disorder of the visual organs

Rare genetic disorder of the visual organs

Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

Retinal dystrophy with inner nuclear layer and ganglion cell anomalies

Single-organ polyarteritis nodosa

Single-organ PAN · Single-organ periarteritis nodosa

Spondyloepimetaphyseal dysplasia, Bieganski type

Sporadic pheochromocytoma/secreting paraganglioma

Vegetative pyoderma gangrenosum

Granulomatous pyoderma gangrenosum

X-linked acrogigantism

Hereditary infantile gigantism · Hereditary pituitary hyperplasia

X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome

Pettigrew Syndrome