Rare Disease Library

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Bartter syndrome type 4

Bartter syndrome with sensorineural hearing loss · Bartter syndrome with sensorineural deafness

Combined immunodeficiency due to c-REL deficiency

CID due to c-REL deficiency · Combined immunodeficiency due to cellular homolog of v-Rel deficiency

Combined immunodeficiency due to CD27 deficiency

CD27 deficiency · Autosomal recessive lymphoproliferative disease due to CD27 deficiency

Combined immunodeficiency due to DOCK2 deficiency

Combined immunodeficiency due to dedicator of cytokinesis 2 protein deficiency · CID due to DOCK2 deficiency

Combined immunodeficiency due to DOCK8 deficiency

CID due to DOCK8 deficiency · Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency

Combined immunodeficiency due to HELIOS deficiency

CID due to HELIOS deficiency · Combined immunodeficiency due to IKZF2 deficiency

Combined immunodeficiency due to IKBKB deficiency

CID due to IKBKB deficiency · Combined immunodeficiency due to inhibitor of nuclear factor kappa B subunit beta deficiency

Combined immunodeficiency due to IL21R deficiency

CID due to IL21R deficiency · Combined immunodeficiency due to interleukin 21 receptor deficiency

Combined immunodeficiency due to ITK deficiency

ITK deficiency · Autosomal recessive lymphoproliferative disease due to ITK deficiency

Combined immunodeficiency due to LCK deficiency

CID due to LCK deficiency · CID due to lymphocyte-specific protein tyrosine kinase deficiency

Combined immunodeficiency due to Moesin deficiency

MSN-related combined immunodeficiency · CID due to Moesin deficiency

Combined immunodeficiency due to OX40 deficiency

Combined immunodeficiency with childhood-onset Kaposi sarcoma · Combined immunodeficiency with impaired immunity to HHV-8

Combined immunodeficiency due to RELB deficiency

CID due to RELB deficiency · Combined immunodeficiency due to RELB proto-oncogene NF-kB subunit deficiency

Combined immunodeficiency due to STIM1 deficiency

CID due to STIM1 deficiency

Combined immunodeficiency due to STK4 deficiency

CID due to STK4 deficiency

Combined immunodeficiency due to TBX1 deficiency

Combined immunodeficiency due to TFRC deficiency

CID due to TFRC deficiency · TFRC-related combined immunodeficiency

Combined immunodeficiency with facio-oculo-skeletal anomalies

Roifman-Chitayat syndrome

Combined immunodeficiency with granulomatosis

CID due to RAG 1/2 deficiency · Combined immunodeficiency due to RAG 1/2 deficiency

Combined immunodeficiency with low Ig due to BCL10 deficiency

Combined immunodeficiency with low Ig due to B-cell lymphoma 10 immune signaling adaptor deficiency · CID with low Ig due to BCL10 deficiency

Combined immunodeficiency with low immunoglobulins and normal B cells

CID with low Ig and normal B cells · Combined immunodeficiency low Ig and normal B cells

Combined T and B cell immunodeficiency

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome

Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome

Non-severe combined immunodeficiency

Non-SCID

Ocular albinism with congenital sensorineural deafness

Waardenburg syndrome type 2 with ocular albinism · Ocular albinism with congenital sensorineural hearing loss

Ocular albinism with late-onset sensorineural deafness

Ocular albinism with late-onset sensorineural hearing loss

Omenn syndrome

Combined immunodeficiency with hypereosinophilia

PGM3-CDG

CID due to PGM3 deficiency · Combined immunodeficiency due to PGM3 deficiency

Reticular dysgenesis-like severe combined immunodeficiency

Reticular dysgenesis-like SCID · Activated Rac2 defect

Sensorineural deafness with dilated cardiomyopathy

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

Severe combined immunodeficiency

SCID

Severe combined immunodeficiency due to adenosine deaminase deficiency

ADA deficiency · SCID due to adenosine deaminase deficiency

Severe combined immunodeficiency due to complete RAG1/2 deficiency

SCID due to complete RAG1/2 deficiency

Severe combined immunodeficiency due to CORO1A deficiency

SCID due to CORO1A deficiency · SCID due to coronin-1A deficiency

Severe combined immunodeficiency due to CTPS1 deficiency

SCID due to CTPS1 deficiency

Severe combined immunodeficiency due to DCLRE1C deficiency

SCID due to DCLRE1C deficiency · Severe combined immunodeficiency due to ARTEMIS deficiency

Severe combined immunodeficiency due to DNA-PKcs deficiency

SCID due to DNA-PKcs deficiency

Severe combined immunodeficiency due to FOXN1 deficiency

Alymphoid cystic thymic dysgenesis · Nude/SCID

Severe combined immunodeficiency due to LAT deficiency

SCID due to LAT deficiency

Short-limb skeletal dysplasia with severe combined immunodeficiency

Achondroplasia-SCID syndrome · Achondroplasia-Swiss type agammaglobulinemia syndrome

Spondylometaphyseal dysplasia with combined immunodeficiency

Roifman-Melamed syndrome · SPENCDI

Sudden sensorineural hearing loss

Secondary acute sensorineural hearing loss

Syndome with combined immunodeficiency due to thymic defect

Syndrome with combined immunodeficiency

T-B- severe combined immunodeficiency

T-B- SCID

T-B+ severe combined immunodeficiency

T-B+ SCID

T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta

T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta