Rare Disease Library

Microcephaly-polymicrogyria-corpus callosum agenesis syndrome

Microcephaly-thin corpus callosum-intellectual disability syndrome

Myopathy with hexagonally cross-linked tubular arrays

Neonatal alloimmune neutropenia

Neuroendocrine tumor of the small intestine

NET of the small intestine · Neuroendocrine neoplasm of the small intestine

Non-syndromic diaphragmatic or abdominal wall malformation

OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome

OBSOLETE: Ben Ari-Shuper-Mimouni syndrome

OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells

OBSOLETE: House allergic alveolitis

OBSOLETE: Immunoproliferative small intestinal disease

OBSOLETE: IPSID · OBSOLETE: Mediterranean lymphoma

OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy

OBSOLETE: Neuroendocrine tumor of small intestine

OBSOLETE: NET of small intestine

OBSOLETE: Not NOTCH3-related small vessel disease of the brain

OBSOLETE: Occupational allergic alveolitis

OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy

OBSOLETE: Rare sucking/swallowing disorder

OBSOLETE: Small pox

OBSOLETE: Variola

OBSOLETE: Sucking/swallowing disorder associated to a chromosomal anomaly

OBSOLETE: Sucking/swallowing disorder associated to cervicofacial or esophageal malformation

OBSOLETE: Sucking/swallowing disorder associated with a neuromuscular disease

OBSOLETE: Sucking/swallowing disorder associated with an identified syndrome

OBSOLETE: Sucking/swallowing disorder associated with basal ganglia anomalies

OBSOLETE: Sucking/swallowing disorder associated with cerebellar anomalies

OBSOLETE: Sucking/swallowing disorder associated with neurologic anomalies

OBSOLETE: Sucking/swallowing disorder associated with posterior fossa anomalies

OBSOLETE: Sucking/swallowing disorder associated with suprabulbar anomalies

OBSOLETE: Sucking/swallowing disorder not related with Pierre Robin syndrome

OBSOLETE: Sucking/swallowing disorder not related with Pierre Robin sequence

OBSOLETE: Syndromic sucking/swallowing disorder with unidentifyed syndrome

Overgrowth or tall stature syndrome with skeletal involvement

Pallister-Hall syndrome

Hypothalamic hamartoblastoma syndrome

Pallister-Killian syndrome

Isochromosome 12p mosaicism · Isochromosome 12p syndrome

Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome

Partially involuting congenital hemangioma

Polydactyly of a biphalangeal thumb and/or hallux

PPD1 · Preaxial polydactyly type 1

Predominantly small-vessel vasculitis

Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma

Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome

APV/ADA, Fallot type · Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome

Qualitative or quantitative defects of alphaB-cristallin

Rabson-Mendenhall syndrome

Rare allergic disease

Rare allergy

Rare allergic respiratory disease

Rare respiratory allergy

Rare carcinoma of small intestine

Rare carcinoma of small bowel

Rare disorder potentially indicated for bowel transplant

Rare disorder potentially indicated for heart transplant

Rare disorder potentially indicated for hematopoietic stem cell transplant

Rare disorder potentially indicated for kidney transplant

Rare disorder potentially indicated for liver transplant

Rare disorder potentially indicated for lung transplant