Knowledge on rare diseases and orphan drugs
COVID-19 & Rare diseases
Rare Diseases Resources for Refugees/Displaced Persons
Homepage > Rare diseases > Classifications
Search for a classification
Return to classification browser
- Rare immune disease ORPHA:98004
- Graft versus host disease ORPHA:39812
- Twin to twin transfusion syndrome ORPHA:95431
- Primary immunodeficiency ORPHA:101997
- Primary immunodeficiency due to a defect in innate immunity ORPHA:101988
- Quantitative and/or qualitative congenital phagocyte defect ORPHA:101985
- Congenital neutropenia ORPHA:101987
- Cyclic neutropenia ORPHA:2686
- Severe congenital neutropenia ORPHA:42738
- Autosomal dominant severe congenital neutropenia ORPHA:486
- X-linked severe congenital neutropenia ORPHA:86788
- Autosomal recessive severe congenital neutropenia ORPHA:439849
- Kostmann syndrome ORPHA:99749
- Severe congenital neutropenia due to G6PC3 deficiency ORPHA:331176
- Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency ORPHA:420699
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency ORPHA:420702
- Severe congenital neutropenia due to JAGN1 deficiency ORPHA:423384
- Syndrome with congenital neutropenia as a major feature ORPHA:331184
- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome ORPHA:445038
- Severe congenital neutropenia due to JAGN1 deficiency ORPHA:423384
- Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency ORPHA:675767
- TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome ORPHA:675628
- Periodic fever-immunodeficiency-thrombocytopenia syndrome ORPHA:652522
- Cohen syndrome ORPHA:193
- Barth syndrome ORPHA:111
- Lichtenstein syndrome ORPHA:2390
- Neutropenia-monocytopenia-deafness syndrome ORPHA:2690
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib ORPHA:79259
- Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency ORPHA:90023
- Hermansky-Pudlak syndrome due to AP-3 deficiency ORPHA:183678
- Hermansky-Pudlak syndrome due to AP3B1 deficiency ORPHA:664500
- Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency ORPHA:664511
- Poikiloderma with neutropenia ORPHA:221046
- Congenital neutropenia-myelofibrosis-nephromegaly syndrome ORPHA:369852
- Severe congenital neutropenia due to G6PC3 deficiency ORPHA:331176
- Shwachman-Diamond syndrome ORPHA:811
- Recurrent infections due to specific granule deficiency ORPHA:169142
- Congenital functional phagocyte defect ORPHA:183681
- Non-syndromic congenital phagocyte functional defect ORPHA:674896
- GATA2 deficiency spectrum ORPHA:228423
- Hereditary pulmonary alveolar proteinosis ORPHA:264675
- Chronic granulomatous disease ORPHA:379
- Infantile LAD-like disease due to RAC2 deficiency ORPHA:183707
- Myeloperoxidase deficiency ORPHA:2587
- Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency ORPHA:619941
- Syndrome with congenital phagocyte functional defect as a major feature ORPHA:674648
- Leukocyte adhesion deficiency ORPHA:2968
- Leukocyte adhesion deficiency type I ORPHA:99842
- Leukocyte adhesion deficiency type II ORPHA:99843
- Leukocyte adhesion deficiency type III ORPHA:99844
- Aggressive periodontitis ORPHA:447740
- Actinomyopathy-associated syndromic thrombocytopenia ORPHA:674653
- Papillon-Lefèvre syndrome ORPHA:678
- Immunodeficiency due to a complement cascade protein anomaly ORPHA:101992
- Immunodeficiency due to a complement cascade component deficiency ORPHA:459345
- Immunodeficiency due to a late component of complement deficiency ORPHA:169150
- Immunodeficiency due to MASP-2 deficiency ORPHA:331187
- Immunodeficiency due to ficolin3 deficiency ORPHA:331190
- Immunodeficiency due to a classical component pathway complement deficiency ORPHA:169147
- Complement component 3 deficiency ORPHA:280133
- Immunodeficiency due to a complement regulatory deficiency ORPHA:459348
- Genetic susceptibility to infections due to particular pathogens ORPHA:183710
- WHIM syndrome ORPHA:51636
- Inherited epidermodysplasia verruciformis ORPHA:302
- T-cell immunodeficiency with epidermodysplasia verruciformis ORPHA:324294
- Chronic mucocutaneous candidiasis ORPHA:1334
- Herpes simplex virus encephalitis ORPHA:1930
- Mendelian susceptibility to mycobacterial diseases ORPHA:748
- Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency ORPHA:319535
- Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency ORPHA:99898
- Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency ORPHA:319547
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ORPHA:319552
- Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency ORPHA:319558
- Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ORPHA:319563
- Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ORPHA:477857
- IFNG-responsive severe mendelian susceptibility to mycobacterial diseases ORPHA:686447
- Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency ORPHA:319539
- Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency ORPHA:319569
- Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency ORPHA:319574
- Susceptibility to infection due to TYK2 deficiency ORPHA:331226
- Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency ORPHA:574957
- Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency ORPHA:319543
- Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency ORPHA:319581
- Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency ORPHA:319589
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency ORPHA:319595
- Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency ORPHA:319600
- X-linked mendelian susceptibility to mycobacterial diseases ORPHA:319605
- Transient predisposition to invasive pyogenic bacterial infection ORPHA:70592
- Susceptibility to viral and mycobacterial infections due to STAT1 deficiency ORPHA:391311
- Whipple disease ORPHA:3452
- Predisposition to invasive fungal disease due to CARD9 deficiency ORPHA:457088
- STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome ORPHA:391487
- Autoinflammatory syndrome with immune deficiency ORPHA:290839
- Familial Mediterranean fever ORPHA:342
- Cherubism ORPHA:184
- Hyperimmunoglobulinemia D with periodic fever ORPHA:343
- Tumor necrosis factor receptor 1 associated periodic syndrome ORPHA:32960
- Majeed syndrome ORPHA:77297
- Blau syndrome ORPHA:90340
- NLRP3-associated autoinflammatory disease ORPHA:208650
- Muckle-Wells syndrome ORPHA:575
- CINCA syndrome ORPHA:1451
- Familial cold urticaria ORPHA:47045
- Keratitis fugax hereditaria ORPHA:647815
- Sterile multifocal osteomyelitis with periostitis and pustulosis ORPHA:210115
- Neonatal inflammatory skin and bowel disease ORPHA:294023
- PLCG2-associated antibody deficiency and immune dysregulation ORPHA:300359
- DITRA ORPHA:404546
- X-linked reticulate pigmentary disorder ORPHA:85453
- Familial hyperinflammatory lymphoproliferative immunodeficiency ORPHA:619953
- Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia ORPHA:572428
- SAMD9L-associated autoinflammatory syndrome ORPHA:619367
- CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome ORPHA:566067
- Early-onset autoinflammatory syndrome due to A20 haploinsufficiency ORPHA:674762
- Periodic fever-immunodeficiency-thrombocytopenia syndrome ORPHA:652522
- Other immunodeficiency syndromes due to defects in innate immunity ORPHA:331193
- Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome ORPHA:568056
- Familial isolated congenital asplenia ORPHA:101351
- Primary immunodeficiency with predisposition to severe viral infection ORPHA:431156
- Primary immunodeficiency due to a defect in adaptive immunity ORPHA:179006
- T-cell immunodeficiency with thymic aplasia ORPHA:83471
- Combined T and B cell immunodeficiency ORPHA:101972
- Severe combined immunodeficiency ORPHA:183660
- T-B+ severe combined immunodeficiency ORPHA:317416
- Severe combined immunodeficiency due to LAT deficiency ORPHA:504523
- T-B+ severe combined immunodeficiency due to gamma chain deficiency ORPHA:276
- T-B+ severe combined immunodeficiency due to JAK3 deficiency ORPHA:35078
- Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome ORPHA:137631
- T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency ORPHA:169154
- T-B+ severe combined immunodeficiency due to CD45 deficiency ORPHA:169157
- T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta ORPHA:169160
- Severe combined immunodeficiency due to CORO1A deficiency ORPHA:228003
- Severe combined immunodeficiency due to FOXN1 deficiency ORPHA:169095
- T-B- severe combined immunodeficiency ORPHA:317419
- Severe combined immunodeficiency due to DCLRE1C deficiency ORPHA:275
- Short-limb skeletal dysplasia with severe combined immunodeficiency ORPHA:935
- Severe combined immunodeficiency due to adenosine deaminase deficiency ORPHA:277
- Reticular dysgenesis ORPHA:33355
- Severe combined immunodeficiency due to LCK deficiency ORPHA:280142
- Severe combined immunodeficiency due to DNA-PKcs deficiency ORPHA:317425
- Severe combined immunodeficiency due to complete RAG1/2 deficiency ORPHA:331206
- Reticular dysgenesis-like severe combined immunodeficiency ORPHA:688543
- T+ B+ severe combined immunodeficiency ORPHA:397802
- Non-severe combined immunodeficiency ORPHA:480549
- T-cell immunodeficiency with epidermodysplasia verruciformis ORPHA:324294
- NIK deficiency ORPHA:447731
- Purine nucleoside phosphorylase deficiency ORPHA:760
- Immunodeficiency by defective expression of MHC class II ORPHA:572
- Combined immunodeficiency due to ZAP70 deficiency ORPHA:911
- Immunodeficiency by defective expression of MHC class I ORPHA:34592
- Omenn syndrome ORPHA:39041
- LIG4 syndrome ORPHA:99812
- Combined immunodeficiency with granulomatosis ORPHA:157949
- Cernunnos-XLF deficiency ORPHA:169079
- Combined immunodeficiency due to CD3gamma deficiency ORPHA:169082
- Susceptibility to respiratory infections associated with CD8alpha chain mutation ORPHA:169085
- Combined immunodeficiency due to DOCK8 deficiency ORPHA:217390
- Idiopathic CD4 lymphocytopenia ORPHA:228000
- Combined immunodeficiency due to partial RAG1 deficiency ORPHA:231154
- Combined immunodeficiency due to STK4 deficiency ORPHA:314689
- XMEN ORPHA:317476
- TCR-alpha-beta-positive T-cell deficiency ORPHA:397959
- BENTA disease ORPHA:464336
- IL21-related infantile inflammatory bowel disease ORPHA:477661
- Combined immunodeficiency due to CD27 deficiency ORPHA:238505
- Combined immunodeficiency due to OX40 deficiency ORPHA:431149
- X-linked combined immunodeficiency due to SASH3 deficiency ORPHA:653751
- Combined immunodeficiency due to FOXN1 haploinsufficiency ORPHA:676039
- Combined immunodeficiency due to FCHO1 deficiency ORPHA:647804
- Combined immunodeficiency with low immunoglobulins ORPHA:688571
- RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome ORPHA:692812
- Combined immunodeficiency due to IKK2 deficiency ORPHA:397787
- Hyper-IgM syndrome with susceptibility to opportunistic infections ORPHA:183663
- Combined immunodeficiency due to DOCK2 deficiency ORPHA:447737
- Combined immunodeficiency due to CARD11 deficiency ORPHA:357237
- Combined immunodeficiency due to TFRC deficiency ORPHA:476113
- Combined immunodeficiency due to IL21R deficiency ORPHA:357329
- Combined immunodeficiency with normal Ig and poor specific antibody response ORPHA:688563
- Combined immunodeficiency due to MALT1 deficiency ORPHA:397964
- Combined immunodeficiency due to RELB deficiency ORPHA:688594
- Combined immunodeficiency due to Moesin deficiency ORPHA:504530
- Combined immunodeficiency due to CD70 deficiency ORPHA:538958
- Combined immunodeficiency due to CARMIL2 deficiency ORPHA:542301
- Combined immunodeficiency due to ITK deficiency ORPHA:538963
- Combined immunodeficiency due to LRBA deficiency ORPHA:445018
- Combined immunodeficiency due to RELA haploinsufficiency ORPHA:596759
- Immunodeficiency predominantly affecting antibody production ORPHA:101977
- Common variable immunodeficiency ORPHA:1572
- Transient hypogammaglobulinemia of infancy ORPHA:169139
- Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells ORPHA:169443
- Agammaglobulinemia ORPHA:183669
- Non-syndromic agammaglobulinemia ORPHA:229717
- Syndromic agammaglobulinemia ORPHA:229720
- Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia ORPHA:632
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome ORPHA:83617
- B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome ORPHA:567502
- Activated PI3K-delta syndrome ORPHA:397596
- Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells ORPHA:331232
- X-linked immunoneurologic disorder ORPHA:2571
- Immunoglobulin heavy chain deficiency ORPHA:169110
- Recurrent infections associated with rare immunoglobulin isotypes deficiency ORPHA:183675
- Selective IgM deficiency ORPHA:331235
- Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells ORPHA:331240
- Hyper-IgM syndrome without susceptibility to opportunistic infections ORPHA:183666
- Hyper-IgM syndrome type 2 ORPHA:101089
- Hyper-IgM syndrome type 4 ORPHA:101091
- Hyper-IgM syndrome type 5 ORPHA:101092
- Constitutional mismatch repair deficiency syndrome ORPHA:252202
- Other immunodeficiency syndrome with predominantly antibody defects ORPHA:331244
- Alopecia antibody deficiency ORPHA:1006
- Say-Barber-Miller syndrome ORPHA:3132
- Osteopetrosis-hypogammaglobulinemia syndrome ORPHA:178389
- Deficiency in anterior pituitary function-variable immunodeficiency syndrome ORPHA:293978
- Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ORPHA:369861
- ATP6AP1-CDG ORPHA:692790
- Immune dysregulation disease with immunodeficiency ORPHA:169361
- Primary hemophagocytic lymphohistiocytosis ORPHA:158038
- Primary hemophagocytic lymphohistiocytosis with hypopigmentation ORPHA:331249
- Chédiak-Higashi syndrome ORPHA:167
- Griscelli syndrome type 2 ORPHA:79477
- Hermansky-Pudlak syndrome due to AP-3 deficiency ORPHA:183678
- Primary hemophagocytic lymphohistiocytosis without hypopigmentation ORPHA:664482
- Immunodeficiency syndrome with autoimmunity ORPHA:169355
- Autoimmune polyendocrinopathy type 1 ORPHA:3453
- Autoimmune lymphoproliferative syndrome ORPHA:3261
- Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome ORPHA:37042
- Immunodeficiency due to CD25 deficiency ORPHA:169100
- Syndromic multisystem autoimmune disease due to Itch deficiency ORPHA:228426
- RAS-associated autoimmune leukoproliferative disease ORPHA:268114
- Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency ORPHA:275517
- FADD-related immunodeficiency ORPHA:306550
- STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome ORPHA:391487
- Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency ORPHA:444463
- Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency ORPHA:619948
- Combined immunodeficiency due to RELB deficiency ORPHA:688594
- Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency ORPHA:658946
- Dianzani autoimmune lymphoproliferative disease ORPHA:275523
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency ORPHA:436159
- STAT3-related early-onset multisystem autoimmune disease ORPHA:438159
- Immune dysregulation with inflammatory bowel disease ORPHA:529974
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome ORPHA:238569
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome ORPHA:529977
- Inflammatory bowel disease-recurrent sinopulmonary infections syndrome ORPHA:529980
- X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency ORPHA:676125
- Infantile inflammatory bowel disease with neurological involvement ORPHA:565788
- Early-onset immune dysregulation due to DOCK11 complete deficiency ORPHA:658951
- Immune dysregulation disease with immunodeficiency associated with EBV susceptibility ORPHA:664456
- Severe combined immunodeficiency due to CTPS1 deficiency ORPHA:420573
- Combined immunodeficiency due to CARMIL2 deficiency ORPHA:542301
- XMEN ORPHA:317476
- EBV-induced lymphoproliferative disease due to PRKCD deficiency ORPHA:664711
- Combined immunodeficiency due to ITK deficiency ORPHA:538963
- EBV-induced lymphoproliferative disease due to RASGRP1 deficiency ORPHA:664699
- Combined immunodeficiency due to CD70 deficiency ORPHA:538958
- EBV-induced lymphoproliferative disease due to CD137 deficiency ORPHA:664726
- EBV-induced lymphoproliferative disease due to TET2 deficiency ORPHA:664729
- EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature ORPHA:664734
- Syndrome with combined immunodeficiency ORPHA:331217
- Wiskott-Aldrich syndrome ORPHA:906
- Dyskeratosis congenita ORPHA:1775
- Vici syndrome ORPHA:1493
- Transcobalamin deficiency ORPHA:859
- Hennekam syndrome ORPHA:2136
- Absent thumb-short stature-immunodeficiency syndrome ORPHA:2951
- Hoyeraal-Hreidarsson syndrome ORPHA:3322
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ORPHA:69088
- Hepatic veno-occlusive disease-immunodeficiency syndrome ORPHA:79124
- Hereditary folate malabsorption ORPHA:90045
- Hypohidrotic ectodermal dysplasia with immunodeficiency ORPHA:98813
- Combined immunodeficiency due to CRAC channel dysfunction ORPHA:169090
- Combined immunodeficiency due to ORAI1 deficiency ORPHA:317428
- Combined immunodeficiency due to STIM1 deficiency ORPHA:317430
- Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ORPHA:477814
- DNA repair defect other than combined T-cell and B-cell immunodeficiencies ORPHA:169346
- Combined immunodeficiency due to GINS1 deficiency ORPHA:505227
- Ataxia-telangiectasia ORPHA:100
- Bloom syndrome ORPHA:125
- ICF syndrome ORPHA:2268
- Nijmegen breakage syndrome ORPHA:647
- Nijmegen breakage syndrome-like disorder ORPHA:240760
- RIDDLE syndrome ORPHA:420741
- Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency ORPHA:75391
- Immuno-osseous dysplasia ORPHA:169349
- Combined immunodeficiency with facio-oculo-skeletal anomalies ORPHA:221139
- Schimke immuno-osseous dysplasia ORPHA:1830
- Cartilage-hair hypoplasia ORPHA:175
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome ORPHA:508533
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome ORPHA:508542
- Roifman syndrome ORPHA:353298
- Laron syndrome with immunodeficiency ORPHA:220465
- Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency ORPHA:317473
- Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis ORPHA:329173
- Syndome with combined immunodeficiency due to thymic defect ORPHA:331220
- Severe combined immunodeficiency due to FOXN1 deficiency ORPHA:169095
- 10p13-p14 deletion syndrome ORPHA:687695
- Combined immunodeficiency due to TBX1 deficiency ORPHA:685017
- CHARGE syndrome ORPHA:138
- 22q11.2 deletion syndrome ORPHA:567
- Jacobsen syndrome ORPHA:2308
- Hyper-IgE syndrome ORPHA:331223
- Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency ORPHA:2314
- Netherton syndrome ORPHA:634
- PGM3-CDG ORPHA:443811
- Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency ORPHA:641368
- Autosomal dominant combined immunodeficiency due to ERBIN deficiency ORPHA:656912
- Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency ORPHA:656313
- Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency ORPHA:656300
- Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency ORPHA:656283
- Autosomal recessive combined immunodeficiency due to IL6R deficiency ORPHA:656326
- Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome ORPHA:662829
- CADINS disease ORPHA:619972
- Facial dysmorphism-immunodeficiency-livedo-short stature syndrome ORPHA:352712
- Combined immunodeficiency-multiple intestinal atresia ORPHA:436252
- Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency ORPHA:661412
- Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome ORPHA:619979
- Hemophagocytic syndrome ORPHA:158032
- Primary hemophagocytic lymphohistiocytosis ORPHA:158038
- Primary hemophagocytic lymphohistiocytosis with hypopigmentation ORPHA:331249
- Chédiak-Higashi syndrome ORPHA:167
- Griscelli syndrome type 2 ORPHA:79477
- Hermansky-Pudlak syndrome due to AP-3 deficiency ORPHA:183678
- Primary hemophagocytic lymphohistiocytosis without hypopigmentation ORPHA:664482
- Secondary hemophagocytic lymphohistiocytosis ORPHA:158041
- Hereditary neutrophilia ORPHA:279943
- Acquired immunodeficiency ORPHA:310050
- AIDS wasting syndrome ORPHA:90081
- Good syndrome ORPHA:169105
- Acquired neutropenia ORPHA:178996
- Neonatal alloimmune neutropenia ORPHA:464370
- Adult idiopathic neutropenia ORPHA:2688
- Felty syndrome ORPHA:47612
- T-cell large granular lymphocyte leukemia ORPHA:86872
- Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies ORPHA:306431