Rare Disease Library

Pai syndrome

Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome

PAICS deficiency

Phosphoribosylaminoimidazole carboxylase deficiency

Painful legs and moving toes syndrome

PLMT syndrome

Painful orbital and systemic neurofibromas-marfanoid habitus syndrome

Placenta accreta spectrum disorder

PAS · Abnormally invasive placenta

Acetazolamide-responsive myotonia

ACZ-responsive congenital myotonia · ACZ-responsive myotonia

Autoerythrocyte sensitization syndrome

GDS · Gardner-Diamond syndrome

Interstitial cystitis

Bladder pain syndrome · Painful bladder syndrome

Partial androgen insensitivity syndrome

PAIS · Partial androgen resistance syndrome

Tolosa-Hunt syndrome

Painful ophthalmoplegia

46,XY difference of sex development due to impaired androgen production

46,XY DSD due to impaired androgen production · 46,XY disorder of sex development due to impaired androgen production

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

Autosomal dominant intermediate CMT disease with neuropathic pain

Autosomal recessive cerebellar ataxia due to a DNA repair defect

Calpain-3-related limb-girdle muscular dystrophy D4

LGMD1I · Limb-girdle muscular dystrophy type D4

Calpain-3-related limb-girdle muscular dystrophy R1

LGMD2A · Limb-girdle muscular dystrophy due to calpain deficiency

Cerebral visual impairment

Cortical visual impairment

Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome

CHOPS syndrome

Complex regional pain syndrome

Complex regional pain syndrome type 1

Algodystrophy · Reflex sympathetic dystrophy

Complex regional pain syndrome type 2

Causalgia

Congenital insensitivity to pain syndrome, Marsili type

Marsili syndrome

Congenital insensitivity to pain with severe intellectual disability

Congenital absence of pain with severe intellectual disability · Congenital analgesia with severe intellectual disability

Congenital insensitivity to pain-anosmia-neuropathic arthropathy

SCN9A-related congenital insensitivity to pain

Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation

Congenital insensitivity to pain with hyperhidrosis · Congenital absence of pain with hyperhidrosis

Constitutional mismatch repair deficiency syndrome

CMMR-D syndrome

Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk

CMV disease in patients with impaired cell mediated immunity deemed at risk

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion

Del(2)(q24) · Monosomy 2q24

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation

NR4A2-related neurodevelopmental syndrome

Diffuse palmoplantar keratoderma with painful fissures

Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome

DAIPT · Distal arthrogryposis with impaired proprioception and touch

DNA repair defect other than combined T-cell and B-cell immunodeficiencies

Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome

Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome

Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment

Familial episodic pain syndrome

FEPS

Familial episodic pain syndrome with predominantly lower limb involvement

Familial episodic pain syndrome with predominantly upper body involvement

Familial isolated hypoparathyroidism due to impaired PTH secretion

Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

Hereditary painful callosities

Keratosis palmoplantaris nummularis · PPK nummularis

Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome

Hypotonia-speech impairment-severe cognitive delay syndrome

Infantile hypotonia-psychomotor retardation-characteristic facies syndrome · IHPRF syndrome

Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency

Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency

Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

Passwell-Goodman-Siprkowski syndrome

Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome

MFHIEN · Midface hypoplasia-hearing loss-elliptocytosis-nephrocalcinosis syndrome

Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome

ARPC4-related syndrome

Neuropathy with hearing impairment