Rare Disease Library

PHACE syndrome

Pascual-Castroviejo syndrome type 2 · PHACES syndrome

Phacoanaphylactic uveitis

Endophthalmitis phacoanaphylactica · Lens-induced endophthalmitis

Phakomatosis cesioflammea

Phakomatosis pigmentovascularis type 2

Phakomatosis cesiomarmorata

Phakomatosis pigmentovascularis type 5

Phakomatosis pigmentokeratotica

Phakomatosis pigmentovascularis

Phakomatosis spilorosea

Phakomatosis pigmentovascularis type 3

Phalangeal microgeodic syndrome

Phalangeal osteolysis

Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome

PCB variant of GBS · PCB variant of Guillain-Barré syndrome

PHAVER syndrome

Powell-Chandra-Saal syndrome

Progressive hemifacial atrophy

Hemifacial atrophy · PHA

Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome · PHARC syndrome

Pseudohypoaldosteronism type 1

PHA1 · PHA type 1

Pseudohypoaldosteronism type 2

Chloride shunt syndrome · Familial hyperkalemic hypertension

Pseudohypoaldosteronism type 2A

PHA2A

Pseudohypoaldosteronism type 2B

PHA2B

Pseudohypoaldosteronism type 2C

PHA2C

Pseudohypoaldosteronism type 2D

PHA2D

Pseudohypoaldosteronism type 2E

PHA2E

3-phosphoserine phosphatase deficiency, infantile/juvenile form

PSPH deficiency, infantile/juvenile form

46,XY difference of sex development due to 5-alpha-reductase 2 deficiency

46,XY DSD due to 5-alpha-reductase 2 deficiency · Pseudovaginal perineoscrotal hypospadias

Ablepharon macrostomia syndrome

AMS

Achalasia-microcephaly syndrome

Acquired hemophagocytic lymphohistiocytosis associated with malignant disease

Hemophagocytic lymphohistiocytosis · HLH

Acquired porencephaly

Acquired schizencephaly

Acrocephalopolydactyly

Acrocephalopolydactylous dysplasia · Elejalde acrocephalopolydactyly

Acute bilirubin encephalopathy

ABE · Acute kernicterus

Acute disseminated encephalomyelitis

ADEM · Acute disseminated encephalitis

Acute disseminated encephalomyelitis with anti-MOG antibodies

ADEM with anti-MOG antibodies · Acute disseminated encephalomyelitis with anti-myelin oligodendrocyte glycoprotein antibodies

Acute disseminated encephalomyelitis without anti-MOG antibodies

Acute disseminated encephalomyelitis without anti-myelin oligodendrocyte glycoprotein antibodies

Acute encephalopathy with biphasic seizures and late reduced diffusion

AESD · AIEF

Acute encephalopathy with inflammation-mediated status epilepticus

Acute necrotizing encephalopathy of childhood

ANEC · Isolated ANE

Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate

Acute reversible leukoencephalopathy due to SLC13A3 deficiency · Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency

Adenocarcinoma of the oesophagus and oesophagogastric junction

Adenocarcinoma of the esophagus and the gastroesophageal junction · Esophageal adenocarcinoma and adenocarcinoma of the esophagogastric junction

Adenosine monophosphate deaminase deficiency

AMP deaminase deficiency · Myoadenylate deaminase deficiency

ADNP-related blepharophimosis-intellectual disability syndrome

Adult hypophosphatasia

Adult Rathbun disease · Adult phosphoethanolaminuria

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

ALSP · Autosomal dominant leukoencephalopathy with neuroaxonal spheroids

Adult-onset progressive leukoencephalopathy-early-onset deafness

Adult-onset progressive leukoencephalopathy-early-onset hearing loss

Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome

Agnathia-holoprosencephaly-situs inversus syndrome

Alobar holoprosencephaly

Alpha delta granule deficiency

Combined alpha-delta platelet storage pool deficiency · Alpha dense granule deficiency

Alpha-1-antitrypsin deficiency

Alpha1-antitrypsin deficiency · Alpha-1-proteinase inhibitor deficiency

Alpha-B crystallin-related late-onset myopathy

Alpha-B crystallin-related late-onset distal myopathy · Late-onset distal crystallinopathy

Alpha-crystallinopathy

CRYAB-related myofobrillar myopathy