Gene Summary

Name:
prefoldin 1
Synonyms:
2700086I23Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal locomotor behavior Pfdn1em1(IMPC)J HET Early adult 7.22×10-06
abnormal embryo size Pfdn1em1(IMPC)J HOM E18.5 0.00
hemorrhage Pfdn1em1(IMPC)J HOM E18.5 0.00
decreased exploration in new environment Pfdn1em1(IMPC)J HET Early adult 9.25×10-06
preweaning lethality, complete penetrance Pfdn1em1(IMPC)J HOM   Early adult 0.00
cleft palate Pfdn1em1(IMPC)J HOM E18.5 0.00
abnormal tail morphology Pfdn1em1(IMPC)J HOM E18.5 0.00
limb grasping Pfdn1em1(IMPC)J HET Early adult 1.21×10-08

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Gross Morphology Embryo E18.5

Images

4 Images

Gross Morphology Placenta E18.5

Images

2 Images

Electroretinography 3

Fundus file

2 Images

Eye Morphology

Images Slit Lamp

5 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Pfdn1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pfdn1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Recurrent pne... ORPHA:277
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Failu... OMIM:300400
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Decreased circulatin... ORPHA:397596
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Increased circulating IgE le... OMIM:617241
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
Immunodeficiency 32B
Pneumonia, Failure to thrive, Cerebral calcification, Impaired oxidative burst, Abnormal circulat... OMIM:226990
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... OMIM:312863
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut... OMIM:301082
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Isolated Agammaglobulinemia
Pneumonia, Failure to thrive, Abnormal lymphocyte morphology, Otitis media, Skin rash, Abnormalit... ORPHA:229717
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Decreased proportion of memory B cells, Decreased specific anti-polysaccharide... ORPHA:70593
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Syngnathia
Cleft palate OMIM:119550
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Cerebellar atrophy, Intrauterine growth retardation, Cerebral calcification, H... ORPHA:89844
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Conjunctivitis, Failure to thrive, Osteomyelitis, Skin rash, Abno... ORPHA:47
Immunodeficiency 53
Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Recurrent o... OMIM:617585
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... OMIM:617514
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Episcleritis, S... ORPHA:47612
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th... OMIM:102700
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Decreased lymphocyte proliferation in re... OMIM:613179
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Thrombocytopenia, Agenesis of corpus callosum OMIM:166990
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Thrombocytopenia, Anemia, Part... OMIM:619302
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... OMIM:619313
Mantle Cell Lymphoma
Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Acute ... ORPHA:572
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Weight loss, L... ORPHA:100024
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Decreased C... OMIM:607271
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Thromb... OMIM:619301
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, ... ORPHA:2585
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired ... OMIM:607594
Omenn Syndrome
Pneumonia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly,... OMIM:603554
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Ataxia, ... OMIM:208900
Immunodeficiency 9
Decreased circulating IgG level, Failure to thrive, Lymphopenia, Recurrent aphthous stomatitis, D... OMIM:612782
Immunodeficiency 27A
Pneumonia, Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Incre... OMIM:209950
Myeloperoxidase Deficiency
Diminished neutrophil myeloperoxidase activity OMIM:254600
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Skin rash, Weight loss, Anemia, ... ORPHA:33355
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lymphopenia, Splenomegaly, Skin rash, Increased circulating antibody level, My... OMIM:617591
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Hepatosplenomegaly, Pancytopenia, Intraut... OMIM:610333
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal... OMIM:616622
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Cyclic Neutropenia
Recurrent tonsillitis, Periodontitis, Pharyngitis, Cervical lymphadenopathy, Lymphopenia, Cyclic ... ORPHA:2686
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon... OMIM:619824
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell co... OMIM:269840
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Agammaglobulinemia, Sinus... ORPHA:33110
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Chudley-Mccullough Syndrome
Ventriculomegaly, Polymicrogyria, Cerebellar dysplasia, Hypoplasia of the corpus callosum, Dyspla... OMIM:604213
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Fail... ORPHA:83471
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Failure to thrive, Decreased circulating IgA level,... OMIM:242860
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Mirage Syndrome
Aspiration pneumonia, Lymphopenia, Leukopenia, Decreased testicular size, Intrauterine growth ret... OMIM:617053
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:240500
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac... OMIM:602450
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Good Syndrome
Thymoma, Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level, Abnormal leukocy... ORPHA:169105
Congenital Toxoplasmosis
Ventriculomegaly, Failure to thrive in infancy, Intrauterine growth retardation, Cerebral calcifi... ORPHA:858
Leishmaniasis
Leukopenia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant... ORPHA:507
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Agammaglobulinemia, Absent circulating B cells, Neutro... OMIM:613501
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, Failure to thrive, Recurrent... OMIM:615617
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T ly... OMIM:619164
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG OMIM:613495
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Immunodeficiency 62
Decreased proportion of memory B cells, Recurrent upper respiratory tract infections, Decreased c... OMIM:618459
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Intrauterine growth retardation, Psoriasiform dermatitis, Interface hepatitis, Autoi... OMIM:243150
Cernunnos-Xlf Deficiency
Lymphopenia, Decreased circulating antibody level, Microcephaly, Thrombocytopenia, B lymphocytope... ORPHA:169079
Galactose Epimerase Deficiency
Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay ORPHA:79238
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Hypoplasia of the pons, Failure to thrive, Dysplastic corpus callosum, Microc... OMIM:618276
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne... OMIM:619281
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia OMIM:209970
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... ORPHA:98813
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Decreased response to growth hormone ... OMIM:307200
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Trans... OMIM:619707
Gracile Bone Dysplasia
Failure to thrive, Hydrocephalus, Short stature, Asplenia, Hypoplastic spleen OMIM:602361
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Reduce... OMIM:308240
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Immunodeficiency 15A
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... OMIM:618204
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammagl... OMIM:601457
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Paro... ORPHA:51636
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ... OMIM:601859
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Cholestasis, Pancytopenia, Hypoplasia of the corpus callosum... OMIM:614576
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Failure to thrive, Lymphopenia, Hepatosplenomegaly,... OMIM:612541
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Infantile Sialic Acid Storage Disease
Failure to thrive, Cerebral atrophy, Splenomegaly, Hydrocephalus, Hepatomegaly, Vacuolated lympho... OMIM:269920
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:86893
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebral cortical atrophy, Cerebellar hypoplasia, Cerebral cortical hemiatrophy, Hydrocephalus, A... ORPHA:2703
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... OMIM:245480
Fusariosis
Pneumonia, Keratitis, Granuloma, Brain abscess, Fasciitis, Abnormality of the spleen, Lymphopenia... ORPHA:228119
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Growth delay, Lymp... OMIM:616005
Ciliary Dyskinesia, Primary, 53
Cerebellar vermis hypoplasia, Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Dilated... OMIM:620642
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Encephalocele, Lymphadenopathy,... ORPHA:381
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... OMIM:615285
Pfapa Syndrome
Splenomegaly, Infectious encephalitis, Weight loss, Lymphadenopathy, Arthritis, Recurrent pharyng... ORPHA:42642
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni... OMIM:603909
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Shwachman-Diamond Syndrome
Carious teeth, Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Ac... ORPHA:811
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Recurrent otitis media, Intrauterine growth retardation, Cryptorchidi... OMIM:616910
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep... ORPHA:1163
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiectasia, Postnatal gr... OMIM:620632
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Polysplenia, Otitis media, Chronic sinusitis, Bronchiectasis OMIM:613807
Mitochondrial Complex I Deficiency, Nuclear Type 39
Intrauterine growth retardation, Cryptorchidism, Dysplastic corpus callosum, Anemia, Small for ge... OMIM:620135
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Lig4 Syndrome
Failure to thrive, Pancytopenia, Psoriasiform dermatitis, Type II diabetes mellitus, Cryptorchidi... OMIM:606593
Chronic Granulomatous Disease
Eczematoid dermatitis, Splenomegaly, Otitis media, Inflammatory abnormality of the eye, Sinusitis... ORPHA:379
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ... OMIM:617780
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, ... OMIM:308230
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Increased circulating IgE level, Hepatosplen... OMIM:618982
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Failure to thrive, Abnormal circulating IgM level, Neutro... OMIM:618048
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level, Type I diabetes mellitus, Hemophago... OMIM:301078
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Ventriculomegaly, Abnormal cerebral white matter morphology, Mild mal... ORPHA:500166
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop... ORPHA:3226
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... ORPHA:331206
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Neoplasm of the larynx, Chronic noninfectious... ORPHA:100083
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Skin rash, Weight loss, Lymphadenopathy, Ataxia, Hepat... ORPHA:391
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Short stature ORPHA:3204
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Retrognathia, Failure to thrive, Increased CSF lactate, Micrognathia, Anisocytosis, Dysplastic co... OMIM:604273
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis, Arthritis ORPHA:139436
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Mucopolysaccharidosis Type 6
Recurrent upper respiratory tract infections, Failure to thrive, Splenomegaly, Disproportionate s... ORPHA:583
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... OMIM:620449
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Pappenheimer bodies, Positive Romberg sign, Cryptorchidism, Weight loss, Po... OMIM:301310
Immunodeficiency 20
Reduced natural killer cell count, Recurrent otitis media, Recurrent viral upper respiratory trac... OMIM:615707
Hemidystonia-Hemiatrophy Syndrome
Abnormal periventricular white matter morphology, Rhizomelic leg shortening, Abnormal paranasal s... ORPHA:306741
Ciliary Dyskinesia, Primary, 1
Pneumonia, Communicating hydrocephalus, Chronic sinusitis, Chronic rhinitis, Absent frontal sinus... OMIM:244400
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Neonatal Lupus Erythematosus
Aplastic anemia, Basal ganglia calcification, Pancytopenia, Abnormality of the liver, Malar rash,... ORPHA:398124
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Hydrocephalus, Thick corpus callosum, Megalencephaly OMIM:615938
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Microcephaly, Hydrocephalus, Ataxia, Corti... OMIM:618709
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody leve... OMIM:614470
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Partial absence of specif... OMIM:618108
Follicular Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphaden... ORPHA:545
Pearson Syndrome
Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Neutropenia, Ataxia, Hypoparathyro... ORPHA:699
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a... ORPHA:906
Leukodystrophy, Hypomyelinating, 24
Severe short stature, Ventriculomegaly, Cerebral atrophy, Microcephaly, Hypothyroidism, B lymphoc... OMIM:619851
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia OMIM:616941
Igg4-Related Pachymeningitis
Nephritis, Increased CSF protein concentration, Lymphadenitis, Somatic sensory dysfunction, Parot... ORPHA:449427
Primary Ciliary Dyskinesia
Ventriculomegaly, Polysplenia, Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Hydro... ORPHA:244
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor... OMIM:620317
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hypoplasia of the corpus callosum, Hydrocep... OMIM:615937
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa... OMIM:606367
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Weight loss, ... ORPHA:54251
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... ORPHA:420741
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... OMIM:608184
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ... OMIM:600802
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Syndromic Diarrhea
Hepatic fibrosis, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the liver, Intrauterine g... ORPHA:84064
Majeed Syndrome
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegal... ORPHA:77297
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Ataxia, Cerebral atrophy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic micr... OMIM:616084
Combined Oxidative Phosphorylation Deficiency 53
Septic arthritis, Failure to thrive, Secondary microcephaly, Osteomyelitis, Dysplastic corpus cal... OMIM:619423
Nijmegen Breakage Syndrome
Recurrent pneumonia, Recurrent otitis media, Malar prominence, Intrauterine growth retardation, M... OMIM:251260
Specific Granule Deficiency 2
Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Absent neutrophil specific granul... OMIM:617475
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Retrogn... OMIM:614069
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Epididy... ORPHA:183675
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Pharyngitis, Leukocytosis, Splenomegaly, Skin rash, Inter... ORPHA:829
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Portal hypertension... ORPHA:824
Chronic Beryllium Disease
Pharyngitis, Lymphocytic interstitial pneumonia, Weight loss, Abnormal proportion of CD4-positive... ORPHA:133
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho... OMIM:615518
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo... ORPHA:35078
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Increased red blood cell count, Ataxia, Abnormal medulla oblongata morphology, Granulo... ORPHA:68
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Decreased lymphocyte proliferation in response to m... ORPHA:169154
Rhabdoid Tumor
Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia, Anemia ORPHA:69077
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Microcephaly, Micrognathia, Aplasia/Hypoplasia of the maxilla ORPHA:40366
Stxbp1-Related Encephalopathy
Dysplastic corpus callosum, Cerebral white matter atrophy, Ataxia ORPHA:599373
Allergic Bronchopulmonary Aspergillosis
Cerebral cortical atrophy, Abnormal eosinophil morphology, Weight loss, Bronchiectasis ORPHA:1164
Wilson Disease
Hepatitis, Failure to thrive, Acute hepatitis, Hepatic steatosis, Splenomegaly, Increased body we... ORPHA:905
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Intrauterine growth retardation, Micrognathia, Cryptorchidism, Hypoplasia of t... OMIM:214110
Bacterial Toxic-Shock Syndrome
Pneumonia, Hepatitis, Pharyngitis, Fasciitis, Osteomyelitis, Skin rash, Abscess, Infectious encep... ORPHA:36234
Mucopolysaccharidosis Type 1
Paresthesia, Splenomegaly, Abnormality of the tonsils, Hydrocephalus, Sinusitis, Short stature, C... ORPHA:579
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating IgG level, Bronchiectasis, Pancytop... OMIM:618394
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hydrocephalus, Hepatomegaly, Pericarditis ORPHA:163596
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Lymphopenia, D... ORPHA:90362
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L... ORPHA:514
Megalencephaly, Autosomal Dominant
Hydrocephalus, Megalencephaly OMIM:155350
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Decreased circula... OMIM:301081
Heme Oxygenase 1 Deficiency
Nephritis, Growth delay, Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopa... OMIM:614034
Glutamate Formiminotransferase Deficiency
Growth delay, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Atypical Teratoid Rhabdoid Tumor
Cerebral calcification, Hydrocephalus, Ataxia ORPHA:99966
Wolman Disease
Adrenal calcification, Adrenal insufficiency, Splenomegaly, Anemia, Cachexia, Hepatomegaly, Bone-... ORPHA:75233
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplen... OMIM:259710
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Increased mean corpuscular volume, Failure to thrive, Postnatal growth retardat... ORPHA:2169
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Cerebellar vermis hypoplasia, Abnormal natural killer cell morphology, Intrauterine growth retard... OMIM:615966
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... ORPHA:231154
B4Galt1-Cdg
Inflammatory abnormality of the skin, Splenomegaly, Cerebellar hypoplasia, Hypothyroidism, Hydroc... ORPHA:79332
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop... ORPHA:217390
Holoprosencephaly 11
Microcephaly, Holoprosencephaly, Polysplenia, Agenesis of corpus callosum OMIM:614226
Immunodeficiency 31C
Growth delay, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Decreased lymphocyte prol... OMIM:614162
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Cerebellar hypoplasia, Micrognathia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Developmental And Epileptic Encephalopathy 36
Microretrognathia, Cerebral atrophy, Microcephaly, Hydrocephalus, Hepatomegaly OMIM:300884
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Weiss-Kruszka Syndrome
Dysplastic corpus callosum, Cryptorchidism, Decreased response to growth hormone stimulation test ORPHA:502430
Juvenile Huntington Disease
Ventriculomegaly, Neuronal loss in basal ganglia, Cerebellar atrophy, Cerebellar vermis atrophy, ... ORPHA:248111
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Skin rash, Generalized lymphadenopathy, Weig... ORPHA:33276
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... OMIM:619705
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Fasciitis, Paresthesia, Myositis, Eosinophilia, Weight loss, Arth... ORPHA:3165
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Chronic sinusitis, Chronic otitis media, Polysplenia OMIM:619608
Huntington Disease-Like 2
Cerebral cortical atrophy, Abnormal corpus striatum morphology, Chorea, Caudate atrophy, Weight l... ORPHA:98934
Desmoplastic Small Round Cell Tumor
Anemia, Cachexia, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Testicular neopla... ORPHA:83469
Pineocytoma
Increased CSF protein concentration, Hydrocephalus, Episodic ataxia ORPHA:251912
Myopathy With Extrapyramidal Signs
Increased CSF protein concentration, Cerebellar dysplasia, Chorea, Leukocytosis, Splenomegaly, Hy... OMIM:615673
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Pelger-Huet Anomaly
Giant platelets, Eczematoid dermatitis, Failure to thrive, Recurrent otitis media, Hyposegmentati... OMIM:169400
Mitochondrial Neurogastrointestinal Encephalomyopathy
Leukoencephalopathy, Increased CSF protein concentration, Paresthesia, Hypogonadotropic hypogonad... ORPHA:298
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Polymicrogyria, Hydrocephalus, Cavum septum pellucidum, Leukemia, Megalencephaly OMIM:602501
Nasu-Hakola Disease
Cerebral cortical atrophy, Ventriculomegaly, Acute leukemia, Chorea, Cerebral calcification, Hydr... ORPHA:2770
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Hepatic cysts, Spl... ORPHA:400
Granulomatosis With Polyangiitis
Keratitis, Subglottic stenosis, Episcleritis, Weight loss, Granulomatosis, Sinusitis, Conjunctivi... OMIM:608710
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Adrenocorticotropin deficient ... ORPHA:293978
Albers-Schönberg Osteopetrosis
Carious teeth, Mandibular osteomyelitis, Osteomyelitis, Abnormal leukocyte morphology, Hydrocepha... ORPHA:53
Refractory Celiac Disease
Normocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, Abnormal spleen physi... ORPHA:398063
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Cerebellar atrophy, Cerebral atrophy, Abno... OMIM:272200
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal... ORPHA:276
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Increased inflammatory response, Myositis, Eosinophilia, Myocarditis, Weight loss, Art... ORPHA:183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Lissencephaly, Ventriculomegaly, Hypoplasia of the pons, Type II lissencephaly, Cerebellar dyspla... OMIM:613153
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Agammaglobulinemia, X-Linked
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ... OMIM:300755
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Ventriculomegaly, Hepatitis, Eczematoid dermatitis, Failure to thrive, ... OMIM:304790
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Temporomandibular joint ankylosis, Micrognathia, Weight loss, Abnormal epig... ORPHA:141152
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Cerebellar vermis hypoplasia, Ventriculomegaly, Cholestasis, Obesity, Splenomeg... OMIM:615630
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Recurrent pneumonia, Lateral ventricle dilatation, Decreased cir... OMIM:612301
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Short stature OMIM:303350
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
Lissencephaly Due To Tuba1A Mutation
Cerebellar vermis hypoplasia, Ventriculomegaly, Microretrognathia, Dysgenesis of the basal gangli... ORPHA:171680
Wiskott-Aldrich Syndrome 2
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati... OMIM:614493
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal mesentery morphology, In... ORPHA:449395
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Decreased circulating antibody level, Autoimmune hemolyt... OMIM:616576
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Failure to thrive, Osteomyelitis, Pancytopenia, Splenomegaly, Anemia, Hydrocephalu... OMIM:259700
Autoimmune Polyendocrinopathy Type 3
Rheumatoid arthritis, Autoimmune hypoparathyroidism, Iridocyclitis, Tubulointerstitial nephritis,... ORPHA:227982
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Chiari type I malformation, Microcephaly, Hydrocephalus, Anemia, Gro... OMIM:617244
Acute Promyelocytic Leukemia
Leukopenia, Pancytopenia, Leukocytosis, Weight loss, Lymphadenopathy, Neutropenia, Thrombocytopen... ORPHA:520
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Panniculitis, Weight loss, Hemophagocytosis ORPHA:86884
Icf Syndrome
Lymphopenia, Micrognathia, Communicating hydrocephalus, Anemia, Abnormality of neutrophils, Decre... ORPHA:2268
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Impaired pain sensation, Abnormal cerebellum morphology, Hydrocepha... ORPHA:1532
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal paranasal sinus morphology, Lymphopenia, Intestinal lymphangiectasia OMIM:207731
Barth Syndrome
Abnormality of neutrophils ORPHA:111
Hypoglossia With Situs Inversus
Asplenia, Micrognathia, Polysplenia OMIM:612776
Krabbe Disease
Increased CSF protein concentration, Failure to thrive, Diffuse cerebral atrophy, Hydrocephalus, ... OMIM:245200
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Abn... OMIM:214500
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... ORPHA:1304
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Recurrent otitis media, Asplenia OMIM:618948
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Failure to thrive, Rectal abscess, Panhypogammaglobulinemia, Recurrent otiti... OMIM:601495
Alexander Disease Type I
Cerebellar atrophy, Failure to thrive, Focal T2 hyperintense basal ganglia lesion, Cachexia, Abno... ORPHA:363717
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Polysplenia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, ... OMIM:615482
Microphthalmia, Syndromic 9
Severe short stature, Multilobulated spleen, Intrauterine growth retardation, Micrognathia, Crypt... OMIM:601186
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip OMIM:600251
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Ecz... OMIM:243700
Focal Facial Dermal Dysplasia Type Iv
Microcephaly, Hydrocephalus, Abnormal mast cell morphology ORPHA:398189
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebellar vermis, Truncal ataxia, Ag... OMIM:220200
Whipple Disease
Uveitis, Splenomegaly, Infectious encephalitis, Myositis, Myocarditis, Anemia, Cachexia, Hypothyr... ORPHA:3452
Fragile X Syndrome
Cerebral cortical atrophy, Otitis media, Sinusitis, Macroorchidism, Mandibular prognathia, Chroni... ORPHA:908
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... OMIM:619374
Alveolar Echinococcosis
Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertension, Hepatic... ORPHA:284
Joubert Syndrome 21
Occipital encephalocele, Splenomegaly, Chronic sinusitis, Encephalocele, Hypoplasia of the corpus... OMIM:615636
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Laryngotracheoesophageal Cleft Type 4
Abnormal mesentery morphology, Abnormality of the spleen, Cachexia, Laryngomalacia ORPHA:93941
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Aicardi-Goutieres Syndrome 7
Basal ganglia calcification, Pancytopenia, Hepatic steatosis, Chilblains, Increased circulating a... OMIM:615846
Edinburgh Malformation Syndrome
Hydrocephalus, Jaundice, Failure to thrive OMIM:129850
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Weight loss ORPHA:2902
Pneumocystosis
Interstitial pneumonitis, Increased circulating antibody level, Weight loss, Acute infectious pne... ORPHA:723
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Failure to thrive, Agammaglobulinemia, Seborrheic dermatitis, Absent circu... OMIM:619693
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L... ORPHA:139402
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... OMIM:618282
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Reduced cerebral white matter volume, Pachygyria, Secondary microcephaly, Hypoplasia of the corpu... OMIM:618174
Igg4-Related Ophthalmic Disease
Keratitis, Increased circulating IgE level, Abnormality of the sphenoid sinus, Increased circulat... ORPHA:449563
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Increased CSF lactate,... OMIM:616034
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Intrauterine growth retardation, Dysmetria, Hypersegmentation of neutrophil nu... OMIM:615578
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid g... ORPHA:99867
Anencephaly 2
Median cleft upper lip, Cleft maxillary alveolar ridge, Median cleft palate, Anencephaly OMIM:619452
Aredyld Syndrome
Craniofacial hyperostosis, Type I diabetes mellitus, Abnormal dental enamel morphology, Intrauter... ORPHA:1133
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Celiac Disease, Susceptibility To, 1
Ataxia, Type I diabetes mellitus, Eczematoid dermatitis, Failure to thrive, Postnatal growth reta... OMIM:212750
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Zygomycosis
Nephritis, Brain abscess, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Sinusitis, Peri... ORPHA:73263
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hepatic fibrosis, Failure to thrive, Lateral ventricle dilatation, Cerebral a... OMIM:619487
Desmosterolosis
Severe short stature, Ventriculomegaly, Abnormal cortical gyration, Retrognathia, Failure to thri... ORPHA:35107
Digeorge Syndrome
Recurrent otitis media, Micrognathia, Hepatic steatosis, Ovarian cyst, Cholelithiasis, Parathyroi... OMIM:188400
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Microretrognathia, Secondary microcephaly, Obesity, Intrauterine gr... OMIM:619737
Poems Syndrome
Hyperesthesia, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Paresth... ORPHA:2905
Osteopetrosis, Autosomal Recessive 5
Diffuse white matter abnormalities, Ventriculomegaly, Growth delay, Extramedullary hematopoiesis,... OMIM:259720
Immunodeficiency 17
Abnormal B cell morphology, Eczematoid dermatitis, Failure to thrive, Decreased proportion of CD8... OMIM:615607
1Q21.1 Microduplication Syndrome
Hydrocephalus, Cryptorchidism, Failure to thrive ORPHA:250994
Q Fever
Pneumonia, Granuloma, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Abnormality of the liver, Cho... ORPHA:781
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Minimal change glomerulonephritis, Growth delay, Abnormal proportion... ORPHA:1830
Pontocerebellar Hypoplasia Type 2
Cerebellar vermis hypoplasia, Ventriculomegaly, Abnormal cortical gyration, Hypoplasia of the cor... ORPHA:2524
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Cryptorchidism, Hypoparathyroidism, Chronic otitis media, Cholelithi... ORPHA:567
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Absence of lymph node germinal center, Chronic mucocutane... ORPHA:79124
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... ORPHA:199306
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Leukocytosis, Eosinophilia, Weight loss, Anemia ORPHA:2070
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis... OMIM:209920
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, Abnormal ... OMIM:612260
Yellow Nail Syndrome
Biliary tract neoplasm, Hypoplasia of lymphatic vessels, Sinusitis, Rhinitis, Bronchiectasis ORPHA:662
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Cerebral hypoplasia, E... ORPHA:508542
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Cerebellar atrophy, Periventricular leukomalacia, Microcephaly, Hydroc... OMIM:618302
Cinca Syndrome
Leukocytosis, Splenomegaly, Inflammatory abnormality of the eye, Anemia, Lymphadenopathy, Hepatom... ORPHA:1451
Febrile Infection-Related Epilepsy Syndrome
Sinusitis ORPHA:163703
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Decreased circulating IgG level, Ex... OMIM:620005
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Intrauterine growth retardation, Micrognathia OMIM:617022
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, W... OMIM:619381
Immunodeficiency 108 With Autoinflammation
Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei OMIM:260570
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Reduced cerebral white matter volume, Natal... OMIM:617237
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... OMIM:614868
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Chiari malformation, Decreased response to growth hormone stimulatio... OMIM:609053
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:615294
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Microcephaly, Skin rash, Failure to thrive ORPHA:26
Holocarboxylase Synthetase Deficiency
Perioral eczema, Eczematoid dermatitis, Keratoconjunctivitis, Weight loss, Thrombocytopenia, Atax... ORPHA:79242
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Stomatocytosis, Hypoglycorrhachia, Intracerebral periventricular ca... ORPHA:168577
Congenital Syphilis
Extramedullary hematopoiesis, Hyperplasia of the maxilla, Hepatosplenomegaly, Synovitis, Lymphade... ORPHA:499009
Pleural Mesothelioma
Hepatomegaly, Weight loss, Lymphadenopathy ORPHA:50251
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Inferior cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Cereb... OMIM:304100
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Failure to thrive, Anemia, Weight loss, Hepatomegaly, Severe short-limb dwarfism ORPHA:1842
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Intrauterine growth retardation, Psorias... ORPHA:436252
Lissencephaly 5
Leukoencephalopathy, Cerebellar vermis hypoplasia, Occipital encephalocele, Type II lissencephaly... OMIM:615191
Poikiloderma With Neutropenia
Recurrent pneumonia, Carious teeth, Retrognathia, Recurrent otitis media, Leukopenia, Micrognathi... OMIM:604173
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Frontal encephal... ORPHA:1528
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:66628
Cronkhite-Canada Syndrome
Hepatomegaly, Anemia, Cachexia, Splenomegaly ORPHA:2930
Idiopathic Achalasia
Recurrent aspiration pneumonia, Weight loss ORPHA:930
Christianson Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Cerebellar atrophy, Aplasia/Hypoplasia of the corpus... ORPHA:85278
Insulin Autoimmune Syndrome
Insulin-resistant diabetes mellitus, Increased circulating antibody level, Weight loss, Hyperinsu... ORPHA:411593
Pseudomyxoma Peritonei
Inflammation of the large intestine, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Recurrent pneumonia, Retrognathia, Micrognathia, Malar flattening, Hypoplasia o... OMIM:613177
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Hypereosinophilia, Increased c... ORPHA:449400
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebellar vermis hypoplasia, Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Cer... OMIM:616900
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Cerebral hypoplasia, Postnatal growth retardation, Intrauterine growth retardat... OMIM:257300
Multiple Myeloma
Paresthesia, Splenomegaly, Increased circulating IgA level, Weight loss, Lymphadenopathy, Anemia,... ORPHA:29073
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:179494
Autosomal Recessive Cutis Laxa Type 2A
Cerebellar vermis hypoplasia, Secondary microcephaly, Postnatal growth retardation, Intrauterine ... ORPHA:357058
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Familial Thrombocytosis
Chronic myelogenous leukemia, Paresthesia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thr... ORPHA:71493
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Bronchiectasis, Abdominal situs ambiguus, Chronic sinusitis, Chronic rhiniti... OMIM:617092
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Nodular Non-Suppurative Panniculitis
Splenomegaly, Inflammatory abnormality of the eye, Weight loss, Hepatomegaly, Panniculitis ORPHA:33577
Takayasu Arteritis
Increased inflammatory response, Inflammatory abnormality of the eye, Weight loss, Arthritis, Anemia ORPHA:3287
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Cerebellar vermis hypoplasia, Chronic mucocuta... OMIM:242840
Polycythemia Vera
Acute leukemia, Polycythemia, Paresthesia, Leukocytosis, Portal hypertension, Splenomegaly, Porta... ORPHA:729
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Otitis media, Chronic sinusitis OMIM:300455
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Leukocytosis, Skin rash, Increased proportion of CD4-positive T cel... OMIM:617099
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Abnormality of the temporomandibular joint, Hepatosplenomegaly, Mild postnata... ORPHA:85408
Mucolipidosis Iv
Cerebellar atrophy, Dysplastic corpus callosum, Microcephaly, Hypergastrinemia, Cerebral dysmyeli... OMIM:252650
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Impaired T cell function, Hypogonadism, Decreased testicular size, Decreased s... OMIM:201100
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Cryptorchidism, Hypoplasia of the co... OMIM:227646
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Micrognathia, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of co... OMIM:618577
Williams-Beuren Region Duplication Syndrome
Cerebellar vermis hypoplasia, Ventriculomegaly, Small for gestational age, Failure to thrive, Dec... OMIM:609757
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hypochromic anemia, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Ataxia, Short stature, A... ORPHA:2720
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Malar flattening, Cryptorchidism, Agenesis of corpus callosum, Chiari type I ma... OMIM:218350
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr... OMIM:600348
Coach Syndrome 2
Hepatic fibrosis, Cerebellar vermis hypoplasia, Portal fibrosis, Congenital hepatic fibrosis, Age... OMIM:619111
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Ataxia, ... OMIM:615688
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic sinusitis, Chroni... OMIM:618699
Fried Syndrome
Cerebral calcification, Abnormal cerebellum morphology, Hydrocephalus ORPHA:85335
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Periodontitis, Hydrocephalus ORPHA:1008
Treacher-Collins Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Retrognathia, Failure to thrive, Abn... ORPHA:861
Granulomatosis With Polyangiitis
Abnormality of the hypothalamus-pituitary axis, Otitis media, Skin rash, Increased inflammatory r... ORPHA:900
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Primary... OMIM:269200
Isolated Anencephaly
Intrauterine growth retardation, Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes ORPHA:563609
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Failure to thrive, Cerebral atrophy, Increased circulating IgE level, Leukocy... OMIM:618213
Diffuse Alveolar Hemorrhage
Anemia, Weight loss, Leukocytosis, Thrombocytopenia ORPHA:90060
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der... ORPHA:324964
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Biliary tract abnormality, Neoplasm of the liver, Cir... ORPHA:90003
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis, Rhinitis, Bronchiectasis OMIM:615504
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Reduced cerebral white matter volume, Lateral ventricle dilatation, Parietal cortical atrophy, Hy... OMIM:620075
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormal peritoneum morphology ORPHA:2023
Cryptogenic Organizing Pneumonia
Weight loss, Leukocytosis, Neutrophilia ORPHA:1302
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly, Polycystic ovaries, Hydro... ORPHA:2969
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Myh9-Related Disease
Nephritis, Giant platelets, Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased m... ORPHA:182050
Rheumatic Fever
Hemiballismus, Chorea, Recurrent pharyngitis, Arthritis, Sinusitis, Myocarditis, Endocarditis, Pe... ORPHA:3099
Ciliary Dyskinesia, Primary, 50
Chronic sinusitis OMIM:620356
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... OMIM:620133
Axial Mesodermal Dysplasia Spectrum
Cerebral cortical atrophy, Abnormality of the spleen, Abnormality of the liver, Micrognathia, Hyd... ORPHA:1834
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hepatic steatosis, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cirrhosis, Hep... OMIM:619418
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters... OMIM:616433
Stromme Syndrome
Accessory spleen, Cerebellar vermis hypoplasia, Micrognathia, Agenesis of corpus callosum, Cerebe... OMIM:243605
Ciliary Dyskinesia, Primary, 12
Chronic sinusitis, Chronic rhinitis, Short stature, Chronic otitis media, Bronchiectasis OMIM:612650
Coccidioidomycosis
Hypoglycorrhachia, Abnormality of the spleen, Morbilliform rash, Abscess, Erythema nodosum, Folli... ORPHA:228123
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Female hypogonadism, Male hypogonadism, Chronic mucocutaneous... OMIM:240300
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Polymicrogyria, Decreased body weight, Dysplastic corpus callosum, Agenesis o... OMIM:614833
Cardiofacioneurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Abdominal situs inversus, Micrognathia, Cryptorchidism, Microcephal... OMIM:619123
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Chiari malformation, Cerebral atrophy, Obesity, Micrognathia, Malar flattening, Cryptorchidism, A... ORPHA:171839
Adams-Oliver Syndrome
Failure to thrive, Leukopenia, Portal hypertension, Encephalocele, Congenital hepatic fibrosis, P... ORPHA:974
Joubert Syndrome With Hepatic Defect
Cerebellar vermis hypoplasia, Occipital encephalocele, Aplasia/Hypoplasia of the corpus callosum,... ORPHA:1454
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Microcephaly, Hydrocephalus, Periventricular white matter hyperintensities, Simplified gyral pattern OMIM:619470
H Syndrome
Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Psoriasiform dermatitis, Hypogo... ORPHA:168569
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss, Abnormal cerebral white matter morphology, Ataxia OMIM:613662
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Aplastic anemia, Hypogonadism, Intrauterine growth retardation, Hypoplasia of t... OMIM:300514
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Failure to thrive, Exocrine pancreatic insufficiency, Hep... OMIM:219700
Rat-Bite Fever
Septic arthritis, Lymphadenitis, Parotitis, Pharyngitis, Morbilliform rash, Skin rash, Pustule, M... ORPHA:31205
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Ventriculomegaly, Occipital encephalocele, Hypoplasia of the ... ORPHA:370959
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Hydrocephalus, Autosomal Dominant
Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Thymic Neuroendocrine Tumor
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:97289
Immunodeficiency 61
Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased... OMIM:300310
Budd-Chiari Syndrome
Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Weight loss, Hepatomega... ORPHA:131
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Chronic otitis media, Chronic sinusitis, Chronic rhinitis OMIM:614017
Castleman Disease
Follicular hyperplasia, Generalized lymphadenopathy, Weight loss, Lymphadenopathy, Thrombocytopen... ORPHA:160
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Malar rash, Enlargement of ... ORPHA:50918
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... ORPHA:2298
Microscopic Polyangiitis
Uveitis, Paresthesia, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Panc... ORPHA:727
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Dilated third ventricle, Lateral ventricle dilatation, Basal gangl... OMIM:620371
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Focal cortical dysplasia, Cerebellar dysplasia, Hypoplasia of the c... OMIM:613155
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Failure to thrive, Impaired T cell function, Anisocytos... OMIM:258900
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Cerebellar vermis hypoplasia, Failure to thrive, Dysplastic corpus callosum, Microcephaly, Mandib... OMIM:620001
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Leuko... ORPHA:53035
Wiedemann-Rautenstrauch Syndrome