Rare Disease Library

Segmental spinal dysgenesis

SSD

Segmental venous malformation

Bockenheimer syndrome · Genuine diffuse phlebectasia

Seizures-intellectual disability due to hydroxylysinuria syndrome

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Selective IgM deficiency

Selective immunoglobulin M deficiency

Selective intrauterine growth restriction

Selective fetal growth restriction · sIUGR

Self-healing papular mucinosis

Self-improving collodion baby

Self-healing collodion baby · SHCB

Self-improving dystrophic epidermolysis bullosa

Self-improving DEB · Transient bullous dermolysis of the newborn

Self-limited childhood occipital epilepsy

Benign occipital epilepsy

Self-limited epilepsy with autonomic seizures

Benign childhood occipital epilepsy, Panayiotopoulos type · SeLEAS

Self-limited epilepsy with centrotemporal spikes

BRE · Benign epilepsy of childhood with centrotemporal spikes

Self-limited infantile epilepsy

BFIE · BFIS

Self-limited neonatal epilepsy

BFNS · Benign familial neonatal convulsions

Self-limited neonatal-infantile epilepsy

SeLFNIE · Benign familial neonatal-infantile seizures

Semantic dementia

Semantic primary progressive aphasia · Semantic variant PPA

Semicircular canal dehiscence syndrome

SCD syndrome

Semilobar holoprosencephaly

Senior-Boichis syndrome

Boichis disease · Nephronophthisis-hepatic fibrosis syndrome

Senior-Loken syndrome

Nephronophthisis with retinal dystrophy · Renal dysplasia-retinal aplasia syndrome

Sensorineural deafness with dilated cardiomyopathy

Neurosensory deafness with dilated cardiomyopathy · Neurosensory hearing loss with dilated cardiomyopathy

Sensorineural hearing loss-early graying-essential tremor syndrome

Sensorineural deafness-early graying-essential tremor syndrome

Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome

Neurodevelopmental disorder with hearing loss and spastic quadriplegia · Sensorineural deafness-spastic quadriplegia-intellectual disability syndrome

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome

SANDO

Sepsis in premature infants

Septate uterus

Septate vagina

Septo-optic dysplasia spectrum

De Morsier syndrome · SOD

Septopreoptic holoprosencephaly

Septopreoptic HPE

Serine biosynthesis pathway deficiency, infantile/juvenile form

SERKAL syndrome

Sex reversion-kidneys, adrenal and lung dysgenesis syndrome

Seromucinous cystadenoma of childhood

Seromucinous cystadenoma of ovary in childhood

Seronegative autoimmune hepatitis

Seronegative AIH · Autoantibody-negative autoimmune hepatitis

Serotonin syndrome

Serotonergic syndrome · Serotonin storm

Serotonin-producing neuroendocrine tumor of pancreas

Serotonin-producing PNET · Serotonin-producing pancreatic NET

Serous carcinoma of the corpus uteri

Endometrial serous carcinoma

Serous cystadenocarcinoma of pancreas

Pancreatic serous cystadenocarcinoma

Serous cystadenoma of childhood

Serous cystadenoma of ovary in childhood

Serpentine fibula-polycystic kidneys syndrome

Exner syndrome

Serpiginous choroiditis

Geographic helicoid peripapillary choroidopathy

Serpinopathy

Serpinopathy with loss of serpin function

Serpinopathy with toxic serpin polymerization

Serrated polyposis syndrome

Hyperplastic polyposis syndrome

SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome

SADDAN

Severe acute respiratory syndrome

SARS · SARS-1

Severe autosomal recessive macrothrombocytopenia