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Gene: Pfdn1 MGI:1914449

Gene Summary

Name:

prefoldin 1

Synonyms:

2700086I23Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
hemorrhage	Pfdn1^em1(IMPC)J	HOM	E18.5	0.00
preweaning lethality, complete penetrance	Pfdn1^em1(IMPC)J	HOM	Early adult	0.00
abnormal locomotor behavior	Pfdn1^em1(IMPC)J	HET	Early adult	3.92×10^-06
limb grasping	Pfdn1^em1(IMPC)J	HET	Early adult	1.53×10^-08
abnormal embryo size	Pfdn1^em1(IMPC)J	HOM	E18.5	0.00
cleft palate	Pfdn1^em1(IMPC)J	HOM	E18.5	0.00
abnormal tail morphology	Pfdn1^em1(IMPC)J	HOM	E18.5	0.00
decreased exploration in new environment	Pfdn1^em1(IMPC)J	HET	Early adult	9.25×10^-06

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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

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Eye Morphology

Images Slit Lamp

5 Images

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Electroretinography 3

Fundus file

2 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Gross Morphology Placenta E18.5

Images

1 Images

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Auditory Brain Stem Response

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

7 Images

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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.

Human diseases associated with Pfdn1 (0 diseases)
Human diseases predicted to be associated with Pfdn1 (1158 diseases)

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	Matching phenotypes	Source
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Absence of lymph node germina...	ORPHA:277
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin...	OMIM:300400
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Microcephaly, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymph...	ORPHA:397596
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Cerebral calcification, Small for gestational age, Eczema, Failure to thrive in infancy, Decrease...	OMIM:617241
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Cerebral calcification, Thrombocy...	OMIM:226990
Immunodeficiency 102	Leukopenia, Decreased circulating IgG level, Hypothyroidism, Hepatomegaly, Partial absence of spe...	OMIM:301082
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Abnormality of th...	ORPHA:229717
Syngnathia	Cleft palate	OMIM:119550
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, Respiratory distress, Microretrognathia, Cerebral calcification, 4-layered li...	ORPHA:89844
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Ataxia, Impaired T cell function, Pure red cell aplasia, ...	OMIM:613179
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Asthma, Recu...	OMIM:617585
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc...	OMIM:615897
Immunodeficiency 18	Recurrent otitis media, Decreased proportion of CD3-positive T cells, Defective T cell proliferat...	OMIM:615615
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Thrombocytopenia, Splenomegaly, Recurrent ph...	ORPHA:47612
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin...	ORPHA:47
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thrombocytopenia, Decreased circula...	OMIM:102700
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral pat...	OMIM:619302
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Rhizomelia, Hydrocephalus, Agenesis of corpus callosum, Thrombocytopenia	OMIM:166990
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, Gait ataxia, T lymphocytopenia, Neutropeni...	ORPHA:572
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul...	ORPHA:100024
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutroph...	ORPHA:2585
Aicardi-Goutieres Syndrome 4	Cerebellar atrophy, Hepatomegaly, Pancytopenia, Cerebral calcification, Ventriculomegaly, Splenom...	OMIM:610333
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto...	OMIM:209950
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno...	OMIM:300853
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia...	OMIM:607594
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Myositis, Sinusitis, Skin rash, Failure to thrive, Splenomegaly, Lymphadenopathy, A...	OMIM:617591
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Immunodeficiency 51	Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocyte physiology, Pustule, Chronic mu...	OMIM:613953
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Weight loss, Leukope...	ORPHA:33355
Cyclic Neutropenia	Pharyngitis, Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Cervical...	ORPHA:2686
Ataxia-Telangiectasia	Sinusitis, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Decreased circulating Ig...	OMIM:208900
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T...	OMIM:619824
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen...	ORPHA:443811
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Cough, Hepatitis, Bronchiectasis,...	ORPHA:33110
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho...	OMIM:618987
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy...	OMIM:604213
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneum...	ORPHA:83471
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Failure to thrive, Sinusitis, Short stature, Pneumonia, Micrognathia, Bronchiectasis, T lymphocyt...	OMIM:242860
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Neutrophil nuclea...	OMIM:245480
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Diabetes mellitus, Mediastin...	ORPHA:169105
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Mirage Syndrome	Hypergonadotropic hypogonadism, Short stature, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus,...	OMIM:617053
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Congenital Toxoplasmosis	Hepatomegaly, Ventriculomegaly, Cerebral calcification, Failure to thrive in infancy, Microcephal...	ORPHA:858
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
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Recurrent upper respiratory tract infections, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:613101
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa...	OMIM:615513
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Growth delay, T lymphocytopenia, Colitis, B l...	OMIM:619164
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly...	OMIM:242700
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Res...	OMIM:618276
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Cleft palate	OMIM:172880
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure to thrive, Abnorma...	OMIM:615617
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Short stature, Asplenia, Anemia, Hypoplastic spleen, Thrombocytop...	OMIM:185070
Immunodeficiency 62	Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Decrea...	OMIM:618459
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate	ORPHA:1074
Ciliary Dyskinesia, Primary, 14	Neonatal respiratory distress, Wheezing, Recurrent pneumonia, Bronchiectasis, Abnormal ciliary mo...	OMIM:613807
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Acute Myelomonocytic Leukemia	Eosinophilia, Dyspnea, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Cernunnos-Xlf Deficiency	Microcephaly, Decreased circulating antibody level, Anemia, T lymphocytopenia, Growth delay, B ly...	ORPHA:169079
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay	ORPHA:79238
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi...	OMIM:619281
Beemer Lethal Malformation Syndrome	Hydrocephalus, Thrombocytopenia	OMIM:209970
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Aspergillosis	Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Cough, Keratitis, Dyspnea, Increased circulati...	ORPHA:1163
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot...	OMIM:601457
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypoplasia, Age...	OMIM:619301
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia...	OMIM:240500
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Gracile Bone Dysplasia	Short stature, Asplenia, Hydrocephalus, Hypoplastic spleen, Failure to thrive	OMIM:602361
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ...	OMIM:612541
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Fusariosis	Brain abscess, Fasciitis, Lung abscess, Sinusitis, Myositis, Maculopapular exanthema, Pneumonia, ...	ORPHA:228119
Congenital Disorder Of Glycosylation, Type Iil	Impaired T cell function, Inflammation of the large intestine, Hepatomegaly, Retrognathia, Cerebe...	OMIM:614576
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Short stature, Pneumonia, Decreased response to growth hormone stimulation test, Enter...	OMIM:307200
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Whim Syndrome	Pharyngitis, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respirato...	ORPHA:51636
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Failure to thrive, Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immun...	ORPHA:98813
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Pancytopen...	OMIM:618986
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Infantile Sialic Acid Storage Disease	Hepatomegaly, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Cerebral atrophy, Failure to t...	OMIM:269920
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron...	OMIM:212050
Griscelli Syndrome	Encephalocele, Hepatomegaly, Ataxia, Short stature, Abnormality of neutrophils, Splenomegaly, Jau...	ORPHA:381
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus, Subcortical cerebral atrophy, Cerebellar hypoplasia, Cerebral cortical hemiatrophy...	ORPHA:2703
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:86893
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Short stature, Splenomegaly, Recurrent upper respiratory tract i...	OMIM:616005
Immunodeficiency 9	Respiratory insufficiency due to muscle weakness, Hypoplasia of the thymus, Recurrent aphthous st...	OMIM:612782
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis...	OMIM:618204
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased response to growt...	ORPHA:811
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613500
Cleft Palate-Lateral Synechia Syndrome	Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth	ORPHA:2016
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Splenomegaly, Mediast...	ORPHA:379
Lig4 Syndrome	Pancytopenia, Psoriasiform dermatitis, Small for gestational age, Microcephaly, Cryptorchidism, A...	OMIM:606593
Cleft Palate, Isolated	Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate	OMIM:119540
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ...	OMIM:308230
Autoimmune Lymphoproliferative Syndrome, Type Iia	Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho...	OMIM:603909
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Weight loss, Arthritis, Infec...	ORPHA:42642
Classic Hodgkin Lymphoma	Hepatomegaly, Ataxia, Skin rash, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Weight...	ORPHA:391
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, R...	OMIM:617780
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ...	OMIM:618048
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Neoplasm of the larynx, Weight loss, Adrenocorticotropic h...	ORPHA:100083
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Dysplastic corpus callosum, Cryptorchidism, Intrauterine growth retard...	OMIM:620135
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Ventriculomegaly, Abnormal...	ORPHA:500166
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto...	ORPHA:331206
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath...	OMIM:301078
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Pneumonia, Asplenia, Absent frontal sinuses, Bronchiectasis, Immotil...	OMIM:244400
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Short stature, Anemia	ORPHA:3204
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Productive cough, Asplenia, Wheezing, Hydrocephalus, Bronchiectasi...	ORPHA:244
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Failure to thrive, Anisocytosis, Micrognathia, Microcephaly, Dysplastic corpus call...	OMIM:604273
Mucopolysaccharidosis Type 6	Sinusitis, Splenomegaly, Recurrent upper respiratory tract infections, Disproportionate short-tru...	ORPHA:583
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh...	ORPHA:545
Roifman Syndrome	Hypogonadotropic hypogonadism, Eosinophilia, Eczema, Microcephaly, Short stature, Postnatal growt...	ORPHA:353298
Immunodeficiency 57 With Autoinflammation	Failure to thrive, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating ...	OMIM:618108
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Portal hypertension, Hypersplenism, Thrombocytopenia, Leuk...	ORPHA:98850
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C...	ORPHA:1164
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul...	OMIM:618969
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the pa...	ORPHA:2552
Chronic Beryllium Disease	Pharyngitis, Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Dyspnea, Abnormalit...	ORPHA:133
Neonatal Lupus Erythematosus	Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Maculopapular exanthema, Skin rash...	ORPHA:398124
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul...	OMIM:619846
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Megalencephaly, Hydrocephalus, Thick corpus callosum, Polymicrogyria, Ventriculomegaly	OMIM:615938
Immunodeficiency 20	Reduced natural killer cell activity, Wheezing, Recurrent viral upper respiratory tract infection...	OMIM:615707
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Microcephaly, Cortical dysplasia, Hydrocephalus, Ventriculomegaly, Abnormal corpus callos...	OMIM:618709
Riddle Syndrome	Generalized lymphadenopathy, Ataxia, Pneumonia, Short stature, Microcephaly, Neonatal asphyxia, R...	ORPHA:420741
Igg4-Related Pachymeningitis	Increased CSF protein concentration, Somatic sensory dysfunction, Sinusitis, Eosinophilia, Increa...	ORPHA:449427
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Leukodystrophy, Hypomyelinating, 24	Severe short stature, Microcephaly, Cerebral atrophy, B lymphocytopenia, Hypothyroidism, Thin cor...	OMIM:619851
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp...	ORPHA:699
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Se...	OMIM:620317
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	T lymphocytopenia, Hypothyroidism, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportio...	OMIM:606367
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Hemimegalencephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Ventriculom...	OMIM:615937
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia	OMIM:616941
Rhabdoid Tumor	Respiratory insufficiency, Lymphadenopathy, Anemia, Neoplasm of the liver, Weight loss, Thrombocy...	ORPHA:69077
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph...	ORPHA:54251
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly...	OMIM:608184
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hyp...	ORPHA:77297
Syndromic Diarrhea	Hepatomegaly, Gastritis, Small for gestational age, Increased mean platelet volume, Short stature...	ORPHA:84064
Hemidystonia-Hemiatrophy Syndrome	Abnormal basal ganglia MRI signal intensity, Rhizomelic leg shortening, Abnormal paranasal sinus ...	ORPHA:306741
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochro...	OMIM:616084
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Osteomyelitis, Short stature, Dysplastic corpus callosum, Hypochromic microcytic an...	OMIM:619423
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Short stature, Dysgammaglobulinemia, Micrognathia, Malar ...	OMIM:251260
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Retrognathia, Decreased circulating anti...	OMIM:614069
Amoebiasis Due To Free-Living Amoebae	Increased CSF protein concentration, Abnormal medulla oblongata morphology, Ataxia, Sinusitis, Pn...	ORPHA:68
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Cerebrospinal fluid rhinorrhoea, Cholecystitis, De...	ORPHA:183675
Specific Granule Deficiency 2	Absent neutrophil specific granules, Recurrent pneumonia, Anemia, Neutropenia, Recurrent otitis m...	OMIM:617475
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Asthma, Increased circulating IgE level, Atopic d...	ORPHA:217390
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Epistaxis, Giant platelets, Macrothrombocytopenia, Neutrophil inclusi...	OMIM:155100
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ...	ORPHA:36234
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Central hypothyroi...	ORPHA:514
Immunodeficiency 13	Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, T...	OMIM:615518
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Epistaxis, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, G...	OMIM:614034
Pulmonary Blastoma	Weight loss, Dyspnea, Recurrent pneumonia, Cough	ORPHA:64741
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Apnea, Micrognathia, Cryptorchidism, Jaundice, Hyp...	OMIM:214110
Acitretin/Etretinate Embryopathy	Aplasia/Hypoplasia of the maxilla, Microcephaly, Hypoplasia of the thymus, Micrognathia	ORPHA:40366
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Abnormal lymphatic vessel morphology, Decre...	ORPHA:90362
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy, Ataxia	ORPHA:599373
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, De...	ORPHA:169154
Wilson Disease	Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Increased body weight, Weight ...	ORPHA:905
Pneumocystosis	Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug...	ORPHA:723
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, ...	OMIM:618394
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac...	OMIM:308240
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Nonproductive cough, Leukocytosis, Increased circulating IgE level, Hypereosinophilia, ...	ORPHA:2902
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia	ORPHA:163596
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Cerebral calcification, Ataxia	ORPHA:99966
Mucopolysaccharidosis Type 1	Sinusitis, Apnea, Abnormality of the tonsils, Short stature, Splenomegaly, Hydrocephalus, Paresth...	ORPHA:579
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Chronic otitis media, Chronic sinusitis, Decreased nasal nitric oxide, Polysplenia	OMIM:619608
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Persistence of ...	OMIM:259710
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Simplified gyral pattern, T lymphocytopenia, B lympho...	OMIM:615966
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc...	ORPHA:824
Megalencephaly, Autosomal Dominant	Hydrocephalus, Megalencephaly	OMIM:155350
Granulomatosis With Polyangiitis	Subglottic stenosis, Episcleritis, Sinusitis, Keratitis, Uveitis, Respiratory insufficiency, Weig...	OMIM:608710
Glutamate Formiminotransferase Deficiency	Growth delay, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia	OMIM:229100
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Upper airway obst...	ORPHA:141152
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Holoprosencephaly 11	Agenesis of corpus callosum, Holoprosencephaly, Polysplenia, Microcephaly	OMIM:614226
Wolman Disease	Hepatomegaly, Adrenal calcification, Cachexia, Bone-marrow foam cells, Splenomegaly, Growth delay...	ORPHA:75233
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
B4Galt1-Cdg	Hepatomegaly, Inflammatory abnormality of the skin, Small for gestational age, Splenomegaly, Hydr...	ORPHA:79332
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Microcephaly, Postnatal growth retardation, Hydrocephalus, Abnor...	ORPHA:2169
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Micrognathia	ORPHA:1538
Developmental And Epileptic Encephalopathy 36	Microretrognathia, Hepatomegaly, Microcephaly, Hydrocephalus, Cerebral atrophy	OMIM:300884
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Myocarditis, Asthm...	ORPHA:183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cerebellar dysplasia, Ventriculomegaly, Agenesis of cerebellar vermis, Type II lissencephaly, Hyp...	OMIM:613153
Juvenile Huntington Disease	Cerebellar atrophy, Ventriculomegaly, Neuronal loss in basal ganglia, Ataxia, Chorea, Gait ataxia...	ORPHA:248111
Kaposi Sarcoma	Generalized lymphadenopathy, Skin rash, Abnormality of the spleen, Weight loss, Abnormality of th...	ORPHA:33276
Huntington Disease-Like 2	Caudate atrophy, Chorea, Weight loss, Abnormal cerebral morphology, Cerebral cortical atrophy, Ab...	ORPHA:98934
Eosinophilic Fasciitis	Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis, Parest...	ORPHA:3165
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abscess, Abnormality o...	ORPHA:400
Agammaglobulinemia, X-Linked	T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ...	OMIM:300755
Myopathy With Extrapyramidal Signs	Hepatomegaly, Ataxia, Microcephaly, Hypoplastic anterior limbs of the internal capsule, Splenomeg...	OMIM:615673
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Short stature, Carious teeth, Mandibular osteomyeli...	ORPHA:53
Ciliary Dyskinesia, Primary, 25	Neonatal respiratory distress, Productive cough, Microcephaly, Chronic pulmonary obstruction, Rec...	OMIM:615482
Pineocytoma	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Pelger-Huet Anomaly	Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr...	OMIM:169400
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Short sta...	ORPHA:2968
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Megalencephaly, Hydrocephalus, Cavum septum pellucidum, Leukemia, Polymicrogyria, Ventriculomegaly	OMIM:602501
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Leukoc...	ORPHA:1302
Mitochondrial Neurogastrointestinal Encephalomyopathy	Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cachexia, Leukoencephalopathy, Wei...	ORPHA:298
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula...	OMIM:617765
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Hypoglossia With Situs Inversus	Respiratory distress, Micrognathia, Asplenia, Upper airway obstruction, Polysplenia	OMIM:612776
Nasu-Hakola Disease	Cerebral calcification, Hydrocephalus, Chorea, Acute leukemia, Cerebral cortical atrophy, Ventric...	ORPHA:2770
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Productive cough, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Weigh...	ORPHA:520
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop...	ORPHA:83469
Krabbe Disease	Diffuse cerebral atrophy, Autoimmune thrombocytopenia, Hydrocephalus, Failure to thrive, Increase...	OMIM:245200
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Osteomyelitis, Carious teeth, Splenomegaly, Hydrocephalus, Anemia, Fa...	OMIM:259700
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, Autoimmune t...	ORPHA:227990
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Dyspnea, Abnormal respiratory system physiology, Lymphadenopa...	ORPHA:50251
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Eosinophilic infiltration of the esophagus, Eczema, Asthma, Increased circulating I...	OMIM:243700
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, In...	ORPHA:398063
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Leukopenia, Tubulointerstitial nephritis, Hash...	ORPHA:227982
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu...	OMIM:618849
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Cerebellar vermis hypoplasia, Short stature, Splenomegaly, Hydrocephalus, Obesity, ...	OMIM:615630
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r...	OMIM:612444
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Ataxia, Apnea, Splenomegaly, Dyspnea, Respiratory failure...	OMIM:615636
Masa Syndrome	Short stature, Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
Multiple Sulfatase Deficiency	Cerebellar atrophy, Hepatomegaly, Ataxia, Short stature, Splenomegaly, Hydrocephalus, Cerebral at...	OMIM:272200
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Microretrognathia, Cerebellar vermis hypoplasia, Agyria, Microcephaly, ...	ORPHA:171680
Wiskott-Aldrich Syndrome 2	Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec...	OMIM:614493
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Spo...	OMIM:214500
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop...	ORPHA:35858
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Ce...	OMIM:619644
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Hydrocephalus, Recurrent pneumonia, Growth delay, Decreased circulati...	OMIM:612301
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Failure to thrive in infancy, Eczema, Oligoarthritis, Growth del...	OMIM:619510
Brucellosis	Liver abscess, Chorea, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Increased circu...	ORPHA:1304
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Chronic pulmonary obs...	OMIM:616576
Whipple Disease	Hepatomegaly, Myositis, Pericarditis, Ataxia, Cachexia, Splenomegaly, Mediastinal lymphadenopathy...	ORPHA:3452
Fanconi Anemia, Complementation Group R	Microcephaly, Hydrocephalus, Chiari type I malformation, Growth delay, Bone marrow hypocellularit...	OMIM:617244
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Microphthalmia, Syndromic 9	Severe short stature, Short stature, Micrognathia, Cryptorchidism, Multilobulated spleen, Respira...	OMIM:601186
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Recurrent otitis media	OMIM:618948
Dandy-Walker Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventr...	OMIM:220200
Fragile X Syndrome	Mandibular prognathia, Sinusitis, Macroorchidism, Otitis media, Chronic otitis media, Cerebral co...	ORPHA:908
Alveolar Echinococcosis	Liver abscess, Ataxia, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic ...	ORPHA:284
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P...	OMIM:616100
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Abnormal lymphocyte proliferation, Pure red cell a...	ORPHA:99867
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Respiratory insufficiency, La...	ORPHA:93941
Icf Syndrome	Communicating hydrocephalus, Short stature, Abnormality of neutrophils, Micrognathia, Decreased c...	ORPHA:2268
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Ataxia, Short stature, Impaired pain sensation, Abnormal cerebellum...	ORPHA:1532
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Cachexia, Hydrocephalus, Abnormal cerebral white matter morphology, F...	ORPHA:363717
Immunodeficiency 43	Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha...	OMIM:241600
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Re...	OMIM:601495
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Abnormal mast cell morphology, Microcephaly	ORPHA:398189
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Pustule, Dyspnea, Myocarditis, Hepatitis, Erythroderma, Lymphadenopathy,...	ORPHA:139402
Yellow Nail Syndrome	Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Hypoplasia of lymphatic vessels, Rhin...	ORPHA:662
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Ventriculomegaly, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thromboc...	OMIM:304790
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Leukocytosis, Increased DLCO, Weight...	ORPHA:90060
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,...	OMIM:615294
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Infectious encepha...	ORPHA:73263
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Cough, Intrauterine growth retardation,...	OMIM:620005
Edinburgh Malformation Syndrome	Jaundice, Failure to thrive, Hydrocephalus	OMIM:129850
Agammaglobulinemia 9, Autosomal Recessive	Failure to thrive, Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczemat...	OMIM:619693
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Ataxia, Short stature, Reduced cerebral white matter volume, Hydrocephalus, Secondary microcephal...	OMIM:618174
Barth Syndrome	Abnormality of neutrophils	ORPHA:111
Q Fever	Respiratory distress, Abnormality of the liver, Cholecystitis, Cough, Infectious encephalitis, He...	ORPHA:781
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ...	OMIM:608106
Glycosylphosphatidylinositol Biosynthesis Defect 17	Growth delay, Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Igg4-Related Ophthalmic Disease	Sinusitis, Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis,...	ORPHA:449563
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Severe B lymphocytopenia, Psoriasiform dermatitis, Decreased response to growt...	ORPHA:293978
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Ataxia, Microcephaly, Hydrocephalus, Cerebral atrophy, Increased CSF lactate,...	OMIM:616034
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Basal ganglia calcification, Hepatic steatosis, ...	OMIM:615846
Pontocerebellar Hypoplasia Type 2	Ventriculomegaly, Cerebellar vermis hypoplasia, Apnea, Abnormal cortical gyration, Dysplastic cor...	ORPHA:2524
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Ventriculomegaly, Short stature, Microg...	OMIM:259720
Desmosterolosis	Failure to thrive, Severe short stature, Absent septum pellucidum, Abnormal cortical gyration, Mi...	ORPHA:35107
Poems Syndrome	Diabetes mellitus, Respiratory insufficiency due to muscle weakness, Hypothyroidism, Abnormality ...	ORPHA:2905
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Cerebral calcification, Ataxia, Eczema, Short stature, Postnatal growth retard...	OMIM:212750
Igg4-Related Kidney Disease	Lymphadenitis, Increased circulating IgG level, Tubulointerstitial nephritis, Cholecystitis, Sial...	ORPHA:449395
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper...	ORPHA:79124
22Q11.2 Deletion Syndrome	Impaired T cell function, Micrognathia, Hypoplasia of the thymus, Chronic otitis media, Hypothyro...	ORPHA:567
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Decreased n...	OMIM:617092
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal hypertension...	OMIM:619487
Digeorge Syndrome	Impaired T cell function, Micrognathia, Parathyroid hypoplasia, Abnormal thymus morphology, Hypop...	OMIM:188400
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Aredyld Syndrome	Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Short stature, Abnormal dental en...	ORPHA:1133
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Eosinophilic Gastroenteritis	Allergic rhinitis, Eosinophilia, Asthma, Leukocytosis, Atopic dermatitis, Weight loss, Anemia	ORPHA:2070
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Combined Oxidative Phosphorylation Deficiency 18	Intrauterine growth retardation, Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Dysme...	OMIM:615578
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Epistaxis, Impaired neutrop...	OMIM:260570
Febrile Infection-Related Epilepsy Syndrome	Sinusitis, Cough	ORPHA:163703
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Microretrognathia, Hypergonadotropic hypogonadism, Hypoesthesia, Re...	OMIM:619737
Holocarboxylase Synthetase Deficiency	Respiratory distress, Ataxia, Eczema, Tachypnea, Keratoconjunctivitis, Weight loss, Growth delay,...	ORPHA:79242
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Ne...	ORPHA:37042
Anencephaly 2	Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge	OMIM:619452
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Neutropenia, Intrauterine growth retardation, Short stature, Minimal ch...	ORPHA:1830
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Rhizomelia, Respiratory insufficiency, Weight loss, Severe short-limb dwarfism, Fai...	ORPHA:1842
Idiopathic Achalasia	Wheezing, Weight loss, Recurrent aspiration pneumonia, Cough	ORPHA:930
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Intellectual Developmental Disorder, Autosomal Recessive 68	Cerebellar atrophy, Small for gestational age, Microcephaly, Hypoplasia of the maxilla, Hydroceph...	OMIM:618302
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Ciliary Dyskinesia, Primary, 12	Neonatal respiratory distress, Short stature, Chronic pulmonary obstruction, Decreased nasal nitr...	OMIM:612650
Familial Isolated Dilated Cardiomyopathy	Abnormality of neutrophils	ORPHA:154
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema, Micrognathia, Increased circulati...	OMIM:618282
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrobulbar optic neuritis,...	ORPHA:1451
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal...	ORPHA:232
Lethal Congenital Contracture Syndrome 10	Intrauterine growth retardation, Hypoplasia of the thymus, Micrognathia	OMIM:617022
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Failure to thrive	ORPHA:250994
Ciliary Dyskinesia, Primary, 27	Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Rhinitis, Respirator...	OMIM:615504
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Psoriasiform dermatitis,...	OMIM:617237
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea...	OMIM:615607
Mucus Inspissation Of Respiratory Tract	Chronic pulmonary obstruction, Chronic sinusitis, Bronchiectasis	OMIM:253240
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa...	ORPHA:29073
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Pulmonary arteri...	ORPHA:71493
Fanconi Anemia, Complementation Group I	Short stature, Absent septum pellucidum, Decreased response to growth hormone stimulation test, M...	OMIM:609053
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal paranasal sinus morphology, Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Hepatitis, Bron...	OMIM:619381
Takayasu Arteritis	Increased inflammatory response, Weight loss, Arthritis, Pulmonary arterial hypertension, Inflamm...	ORPHA:3287
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Failure to thrive, Skin rash, Microcephaly	ORPHA:26
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Respiratory insufficiency, Cerebral atr...	OMIM:616900
Granulomatosis With Polyangiitis	Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Diabetes insipidu...	ORPHA:900
Igg4-Related Aortitis	Increased inflammatory response, Increased circulating IgG4 level, Asthma, Increased circulating ...	ORPHA:449400
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Respiratory insufficiency, Weight loss, Lymphadenopathy, Inflamma...	ORPHA:26790
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short stature, Eczema, Thrombocytopenia, Recurrent upper respiratory t...	ORPHA:508542
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Adrenal hypoplasia, Micrognathia, Recurrent pneumonia, Growth delay, Hypoplasia...	OMIM:613177
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Biliary tract abnorma...	OMIM:209920
Coach Syndrome 2	Cerebellar vermis hypoplasia, Congenital hepatic fibrosis, Hydrocephalus, Portal fibrosis, Hepati...	OMIM:619111
Corpus Callosum, Partial Agenesis Of, X-Linked	Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Hypo...	OMIM:304100
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Intracerebral periventricular calcifications, Spontaneous hemolytic ...	ORPHA:168577
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Subcortical band heterotopi...	OMIM:615191
Cronkhite-Canada Syndrome	Splenomegaly, Hepatomegaly, Cachexia, Anemia	ORPHA:2930
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Rectal...	ORPHA:436252
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Cerebel...	ORPHA:1528
Tuberculosis	Weight loss, Cough	ORPHA:3389
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma...	ORPHA:2688
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Christianson Syndrome	Mandibular prognathia, Cerebellar atrophy, Cachexia, Microcephaly, Gait ataxia, Aplasia/Hypoplasi...	ORPHA:85278
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Insulin-resistant diabetes mellitus, Weight loss, Increased circulating ant...	ORPHA:411593
Obesity Due To Congenital Leptin Deficiency	Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti...	ORPHA:66628
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Chronic sinusitis, Otitis media	OMIM:300455
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the temporomandibular joint, Mild postnatal growth retardation, Iridocyclitis, Kne...	ORPHA:85408
Cystic Fibrosis	Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Asth...	OMIM:219700
Ciliary Dyskinesia, Primary, 32	Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc...	OMIM:616481
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Failure to thrive in infancy, Increased circulating IgA level, Leukocyto...	OMIM:617099
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent upper respiratory tract infecti...	OMIM:614868
Mosaic Variegated Aneuploidy Syndrome 1	Ventriculomegaly, Small for gestational age, Short stature, Micrognathia, Hypodysplasia of the co...	OMIM:257300
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Ciliary Dyskinesia, Primary, 50	Chronic sinusitis	OMIM:620356
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Laryngotracheal stenosis, Upper airway obstruction, Lymphadenopath...	ORPHA:142
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti...	ORPHA:179494
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Vici Syndrome	Decreased circulating IgG level, Schizencephaly, Cerebellar vermis hypoplasia, Failure to thrive,...	OMIM:242840
Rheumatic Fever	Pericarditis, Sinusitis, Epistaxis, Recurrent pharyngitis, Chorea, Myocarditis, Respiratory insuf...	ORPHA:3099
Mucolipidosis Iv	Cerebellar atrophy, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Hypergastr...	OMIM:252650
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Microceph...	OMIM:227646
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Apnea, Portal hypert...	ORPHA:1454
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ...	ORPHA:228123
Williams-Beuren Region Duplication Syndrome	Cerebellar vermis hypoplasia, Small for gestational age, Decreased response to growth hormone sti...	OMIM:609757
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes...	OMIM:600348
Poikiloderma With Neutropenia	Skin rash, Short stature, Micrognathia, Carious teeth, Splenomegaly, Recurrent pneumonia, Growth ...	OMIM:604173
Oculocerebral Hypopigmentation Syndrome, Preus Type	Ataxia, Short stature, Abnormality of neutrophils, Hydrocephalus, Hypochromic anemia, Aplasia/Hyp...	ORPHA:2720
Treacher-Collins Syndrome	Encephalocele, Failure to thrive, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of ...	ORPHA:861
Myh9-Related Disease	Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant platelets, Neutrophil inc...	ORPHA:182050
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus, Periodontitis	ORPHA:1008
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Craniofacial osteosclerosis, Weight loss...	ORPHA:324964
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Ataxia, Postnatal ...	ORPHA:357058
Adams-Oliver Syndrome	Encephalocele, Failure to thrive, Portal hypertension, Congenital hepatic fibrosis, Hydrocephalus...	ORPHA:974
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma...	ORPHA:97289
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Ataxia, Impaired T cell function, Short stature, Splenomegaly, Hypogonadism, Decrea...	OMIM:201100
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Short stature, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Decre...	OMIM:614833
Fried Syndrome	Abnormal cerebellum morphology, Hydrocephalus, Cerebral calcification	ORPHA:85335
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin...	OMIM:614017
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Skin rash, Splenomegaly, L...	ORPHA:829
Isolated Anencephaly	Intrauterine growth retardation, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Reduced cerebral white matter volume, Hyposegmentation of neutrophil nuclei, Lateral ventricle di...	OMIM:620075
Castleman Disease	Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Thrombocytopeni...	ORPHA:160
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Subglottic laryngitis, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymo...	OMIM:269200
Scedosporiosis	Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, Bronchial breath sound, ...	ORPHA:449280
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im...	OMIM:618063
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Neonatal respiratory distress, Hydrocephalus	OMIM:266100
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Micrognathia, Cryptorchidism, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of corpu...	OMIM:618577
Craniofacial Dyssynostosis With Short Stature	Short stature, Cryptorchidism, Hydrocephalus, Chiari type I malformation, Hypoplasia of the corpu...	OMIM:218350
Dyskeratosis Congenita, Autosomal Recessive 8	Cerebellar atrophy, Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytope...	OMIM:620133
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Leukocytosis, Cardiorespiratory arrest, Weight loss, Cough, Pleural ef...	ORPHA:188
Axial Mesodermal Dysplasia Spectrum	Short stature, Micrognathia, Abnormality of the spleen, Hydrocephalus, Abnormality of the liver, ...	ORPHA:1834
Proteus-Like Syndrome	Mandibular prognathia, Communicating hydrocephalus, Thymus hyperplasia, Splenomegaly, Abnormality...	ORPHA:2969
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Ataxia, Portal hypertension, Leukocytosis, Hepat...	OMIM:615688
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microvesicular hepatic steatosis, Agenesis of corpus callosum, Hepatic steatosis, Accessory splee...	OMIM:619418
Stromme Syndrome	Accessory spleen, Cerebellar vermis hypoplasia, Micrognathia, Microcephaly, Hydrocephalus, Cerebe...	OMIM:243605
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Decreased ...	OMIM:240300
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Ataxia, Skin rash, Pustule, Thrombocytopenia, Cervical...	ORPHA:50918
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Periventricular white matter hyperintensities, Hydrocephalus, Simplified gyral pattern, Microcephaly	OMIM:619470
Erythrocytosis, Familial, 1	Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion...	OMIM:133100
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Per...	ORPHA:727
Immunodeficiency 40	Hepatomegaly, Recurrent pneumonia, Eosinophilic granuloma, Growth delay, T lymphocytopenia, Inter...	OMIM:616433
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Hypergonadotropic hypogonadism, Aplastic anemia, Hydrocephalus, Growth delay, H...	OMIM:300514
Thymic Carcinoma	Neoplasm of the thymus, Mediastinal lymphadenopathy, Dyspnea, Weight loss, Cough	ORPHA:99868
Ciliary Dyskinesia, Primary, 17	Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media, Ciliary dyskinesia, Chronic sinu...	OMIM:614679
H Syndrome	Psoriasiform dermatitis, Diabetes mellitus, Short stature, Microcytic anemia, Recurrent pharyngit...	ORPHA:168569
Trochlea Of The Humerus, Aplasia Of	Cleft palate	OMIM:191000
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Neonatal respiratory distress, Psoriasiform dermatitis, Ataxia, Decreas...	ORPHA:221139
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation	OMIM:123155
Cardiofacioneurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Asplenia, Micrognathia, Cryptorchidism, Abdominal sit...	OMIM:619123
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Ventricu...	ORPHA:370959
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ataxia, Cachexia, Weight loss, Abnormal cerebral white matter morphology, Slender build	OMIM:613662
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Mandibular prognathia, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Si...	OMIM:620001
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Micrognathia, Cryptorchidism, Hydrocephalus, Obesity, Cerebral atrophy, Abnormal septum pellucidu...	ORPHA:171839
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Acute colitis, Dyspnea, Leukocytosis, Weight loss, Pleural empyema, ...	ORPHA:67
Rat-Bite Fever	Pharyngitis, Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema nodosum, Lymph...	ORPHA:31205
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Ciliary Dyskinesia, Primary, 40	Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, De...	OMIM:618300
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Increased circulatin...	ORPHA:2298
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Cachexia, Weight loss, Gait ataxia, Increased CSF lactate, Failure to thrive	OMIM:612075
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B ...	ORPHA:3261
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Small for gestational age, Pneumonia, Short stature, Micr...	OMIM:264090
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abno...	OMIM:181000
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of t...	OMIM:613155
Gm1 Gangliosidosis	Mandibular prognathia, Ataxia, Short stature, Splenomegaly, Hepatosplenomegaly, Weight loss, Abno...	ORPHA:354
Polycythemia Vera	Hepatomegaly, Epistaxis, Portal hypertension, Pulmonary embolism, Portal vein thrombosis, Splenom...	ORPHA:729
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ...	ORPHA:91139
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti...	ORPHA:131
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Severe short stature, Short stature, Splenomegaly, Asthm...	OMIM:309900
1Q41Q42 Microdeletion Syndrome	Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Hyposegmentation of neutrophil nuc...	ORPHA:250999
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Abnormal superior cerebellar peduncle morphology, Somatic sensory dysfu...	ORPHA:370348
Huntington Disease-Like 1	Cerebellar atrophy, Chorea, Dysmetria, Gait ataxia, Abnormal basal ganglia morphology, Weight los...	ORPHA:157941
Oslam Syndrome	Carious teeth, Increased mean corpuscular volume, Short stature, Abnormality of neutrophils	ORPHA:2760
Immunodeficiency 61	Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, A...	OMIM:300310
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Asthma, Hydrocephalus, Cholestasis, Weight loss, Portal fibrosi...	OMIM:619377
Alg12-Cdg	Micrognathia, Cavum septum pellucidum, Pachygyria, Partial absence of specific antibody response ...	ORPHA:79324
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Pustule, Glucocortocoid...	ORPHA:171876
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Abnormal cerebral white matter mor...	ORPHA:352682
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus	ORPHA:2476
Multiple Sulfatase Deficiency	Hepatomegaly, Short stature, Microcephaly, Splenomegaly, Hydrocephalus	ORPHA:585
Immunodeficiency 96	Eczema, Increased proportion of gamma-delta T cells, Growth delay, Decreased circulating total Ig...	OMIM:619774
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Short stature	ORPHA:3004
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Eec Syndrome	Short stature, Abnormal dental enamel morphology, Decreased response to growth hormone stimulatio...	ORPHA:1896
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Failure to thrive, Micrognathia, Hypoplasia of the pons, Hypoplasia of the...	OMIM:620157
Joubert Syndrome 23	Dysplastic corpus callosum, Tachypnea, Apnea, Cerebellar dysplasia	OMIM:616490
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum	ORPHA:250972
Alexander Disease	Ataxia, Hydrocephalus, Dysmetria, Abnormal dentate nucleus morphology, Increased CSF protein conc...	OMIM:203450
Malt Lymphoma	Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Post...	ORPHA:52417
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	T lymphocytopenia, Infectious encephalitis, Short stature, Autoimmune thrombocytopenia, Abnormali...	ORPHA:391487
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Ataxia, Apnea, Microcephaly, Leukocytosis, Jaundice, Tachypnea,...	ORPHA:20
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Weight loss, Iron deficiency anemia, Inflammation...	OMIM:301074
Hereditary Orotic Aciduria	Splenomegaly, Impaired T cell function, Anemia	ORPHA:30
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Heterotaxy, Visceral, 2, Autosomal	Microcephaly, Asplenia, Abdominal situs inversus, Polysplenia, Agenesis of corpus callosum	OMIM:605376
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Ventriculomegaly, Cachexia, Abnormality of the sp...	ORPHA:2072
Ciliary Dyskinesia, Primary, 15	Neonatal respiratory distress, Wheezing, Recurrent pneumonia, Bronchiectasis, Cough, Recurrent ot...	OMIM:613808
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ...	OMIM:609637
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus, Short stature, Hypoplasia of the corpus callosum, Micrognathia	ORPHA:1516
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Microretrognathia, Agenesis of cerebellar vermis, Posterior fossa cyst ...	OMIM:220220
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Ataxia, Epistaxis, Abnormality of neutrophils, Splenomegaly, Res...	ORPHA:33226
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Cerebral calcification, Hydrocephalus, Hepatosplenomegaly, Anemia, Leukopen...	ORPHA:505248
Erythrokeratodermia Variabilis	Diabetes mellitus, Skin rash, Short stature, Microcephaly, Weight loss, Abnormal testis morphology	ORPHA:317
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Ataxia, Anemia, Weight loss	OMIM:256700
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Episodic tachypnea...	ORPHA:163961
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ...	ORPHA:254516
Ciliary Dyskinesia, Primary, 30	Asthma, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficiency, Respiratory insu...	OMIM:616037
Mulibrey Nanism	Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation	ORPHA:2576
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Weight loss, Lymphadenopathy	ORPHA:2221
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Short stature, Microcephaly, Dysplastic corpus callosum, Recurrent pneumonia, ...	OMIM:619179
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat...	OMIM:601775
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepato...	ORPHA:85450
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Familial Nasal Acilia	Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro...	ORPHA:922
Diencephalic Syndrome	Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Cachexia, Decreased body weight	ORPHA:1672
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate, Ischemic stroke, Hypopitu...	ORPHA:90065
Temple Syndrome	Small for gestational age, Short stature, Maturity-onset diabetes of the young, Micrognathia, Ove...	OMIM:616222
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Fraser Syndrome 2	Respiratory failure, Hypoplasia of the thymus, Hypoplasia of the epiglottis	OMIM:617666
Right Atrial Isomerism	Asplenia, Agenesis of corpus callosum, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Meckel Syndrome, Type 1	Occipital encephalocele, Adrenal hypoplasia, Micrognathia, Asplenia, Agenesis of corpus callosum,...	OMIM:249000
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Otitis media, Ciliary dyskinesia	OMIM:606763
Ciliary Dyskinesia, Primary, 6	Ciliary dyskinesia, Sinusitis, Abnormal ciliary motility, Recurrent sinusitis	OMIM:610852
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomeg...	ORPHA:171
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cortisol level, E...	ORPHA:199299
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Cachexia, Chorea, Dysmetria, Gait ataxia	OMIM:618093
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Short stature, Abnormal dental ename...	ORPHA:1452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly, Ventriculomegaly	OMIM:614830
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Neonatal respiratory distress, Thymus hyperplasia, Micrognathia, Cerebral atrophy, Chylothorax	OMIM:619036
Spondyloenchondrodysplasia With Immune Dysregulation	Cerebral calcification, Short stature, Pneumonia, Autoimmune thrombocytopenia, Hypothyroidism, Ly...	OMIM:607944
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Impaired temp...	ORPHA:99947
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Crackles, Mediastinal lymphadenopathy, Dyspnea, Wheezing, Bronch...	ORPHA:79128
Ciliary Dyskinesia With Defective Radial Spokes	Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Ciliary dysk...	OMIM:242670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Leukoencephalopathy, Cerebellar hypo...	OMIM:615181
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Micrognathia, Hydrocephalus, Cerebral atrop...	OMIM:620156
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Ventriculomegaly, Micrognathia, Microcephaly, Cryptorchidis...	ORPHA:96170
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Lissencephaly, Ve...	ORPHA:2185
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Failure to thrive, Ataxia, Short stature, Micrognathia, Microcephaly, Hydrocephalus, Colpocephaly...	OMIM:619833
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Bone-marrow foam cells, Cachexia, Hypersplenism, Microvesicular hepatic st...	ORPHA:275761
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Hepatic cysts, Portal hypertension, Malformation of the hepati...	OMIM:208540
Pallister-Hall-Like Syndrome	Occipital encephalocele, Short stature, Microcephaly, Micrognathia, Hydrocephalus, Chiari type I ...	OMIM:241800
Huntington Disease-Like 2	Chorea, Cerebral cortical atrophy, Weight loss	OMIM:606438
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Weight loss, Abnormal liver parenchyma morphology, Lymphadenopathy, ...	ORPHA:1332
Chiari Malformation Type Ii	Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Chiari malformation, ...	OMIM:207950
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega...	OMIM:260920
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Skin rash, Failure to t...	OMIM:612852
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Microcephaly, Growth delay, Methemoglobinemia, Exertional dyspnea	OMIM:250800
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Eczema, Hypoplasia of the maxilla, Keratoconjunctivitis sicca, Breast aplasia, Cough, ...	ORPHA:238468
Central Precocious Puberty In Male	Acne, Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Abnormal response to...	ORPHA:649929
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormo...	ORPHA:97287
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Microcephaly, Hypochromic microcytic anemia, Hepato...	ORPHA:96123
Even-Plus Syndrome	Dysplastic corpus callosum, Severe short stature, Agenesis of corpus callosum, Atopic dermatitis	OMIM:616854
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepatic cholestasis, Lymphadenopathy...	ORPHA:1333
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Weight loss	ORPHA:2198
Beta-Ketothiolase Deficiency	Hepatomegaly, Ataxia, Leukocytosis, Tachypnea, Weight loss, Cough, Thrombocytosis	ORPHA:134
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Benign Recurrent Intrahepatic Cholestasis	Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci...	ORPHA:65682
Mosaic Trisomy 9	Ventriculomegaly, Spina bifida, Microcephaly, Asplenia, Micrognathia, Cryptorchidism, Abnormal li...	ORPHA:99776
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Micrognathia, Dysplastic corpus callosum, Hydrocele testis, Cerebellar hypoplasia	OMIM:618810
Ciliary Dyskinesia, Primary, 10	Chronic otitis media, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis	OMIM:612518
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Chronic noninfectious lymphadenopathy, Increased circulating ACTH level, Weight los...	ORPHA:100075
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Ataxia, Megaloblastic anemia, Pulmonary embolism, Microcephaly, Jaundice, H...	ORPHA:79282
Loeffler Endocarditis	Pericarditis, Eosinophilia, Dyspnea, Weight loss, Cough	ORPHA:75566
Oculopharyngodistal Myopathy	Abnormal morphology of musculature of pharynx, Respiratory insufficiency due to muscle weakness, ...	ORPHA:98897
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Microcephaly, Hydrocephalus, Meningocele, Anencepha...	OMIM:611134
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Cerebellar malformation, Type II lissen...	ORPHA:324416
Emanuel Syndrome	Broad jaw, Ventriculomegaly, Delayed eruption of primary teeth, Micrognathia, Microcephaly, Crypt...	OMIM:609029
Primary Familial Polycythemia	Epistaxis, Abnormal hemoglobin, Dyspnea, Cough, Polycythemia, Exertional dyspnea	ORPHA:90042
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Micrognathia, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Hydranencepha...	OMIM:225790
Diabetic Embryopathy	Microcephaly, Micrognathia, Abnormality of the pancreas, Cryptorchidism, Hydrocephalus, Aplasia/H...	ORPHA:1926
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hydranencephaly, Da...	OMIM:617967
Cryptococcosis	Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Mediastinal lymphadenopathy, P...	ORPHA:1546
Al Amyloidosis	Hepatomegaly, Howell-Jolly bodies, Nonproductive cough, Dyspnea, Weight loss, Abnormality of the ...	ORPHA:85443
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Failure to thrive in...	ORPHA:488627
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Micrognathia, Cryptorchidism, Respiratory insufficiency, Thrombocyto...	ORPHA:1237
Gaisböck Syndrome	Diabetes mellitus, Overweight, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin conce...	ORPHA:90041
Ménétrier Disease	Giant hypertrophic gastritis, Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Dubowitz Syndrome	Delayed eruption of teeth, Hypoparathyroidism, Short stature, Eczema, Abnormality of neutrophils,...	ORPHA:235
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr...	ORPHA:79078
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Thin corpus callosum, Cerebral atrophy, Obesity	OMIM:616521
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Emphysema, Chronic sinusitis, Bronchiectasis	OMIM:604571
Meckel Syndrome	Accessory spleen, Encephalocele, Pancreatic fibrosis, Micrognathia, Asplenia, Congenital hepatic ...	ORPHA:564
Hogue-Janssen Syndrome 2	Microcephaly, Hydrocephalus, Gait ataxia, Hypoplasia of the corpus callosum, Agenesis of corpus c...	OMIM:616362
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Large for gestational age, Bilateral cryptorchidism, Dysplastic corpus callosum, Asthma, Dilated ...	ORPHA:544488
Erdheim-Chester Disease	Osteomyelitis, Ataxia, Skin rash, Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, Abnorm...	ORPHA:35687
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Microcephaly, Megaloblastic anemia, Hydrocephalus, Neutropenia, Failure to thrive, Cerebral corti...	OMIM:277400
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Ataxia, Ventriculomegaly, Short stature, Splenomegaly,...	ORPHA:355
Congenital Sialidosis Type 2	Hepatomegaly, Ataxia, Hydrocephalus, Dysmetria, Hepatosplenomegaly	ORPHA:93400
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Cerebellar vermis hypoplasia, Micrognathia, Postnatal growth retardation, Partial...	ORPHA:300570
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Hydrolethalus Syndrome 2	Micrognathia, Hydrocephalus, Anencephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Short stature, Hypoplasia of the maxilla, Hydrocephalus, Malar flattening, Agenesis of corpus cal...	OMIM:109120
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Postnatal growth retardation, Hyposegmentation of neutrophil nuclei, Hypoplasia of the zygomatic ...	OMIM:614800
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Short stature, Hydrocephalus, Obesity, Hypogonadism, Delayed puberty	ORPHA:141333
Nephroblastoma	Neoplasm of the liver, Weight loss, Lymphadenopathy	ORPHA:654
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus...	OMIM:617542
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Hepatomegaly, Diffuse cerebral atrophy, Severe B lymphocytopenia, Superfici...	ORPHA:83617
Triploidy	Hepatomegaly, Micrognathia, Abnormality of the pancreas, Cryptorchidism, Abnormality of the gallb...	ORPHA:3376
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Short stature, Microcephaly, Hydrocephalus, Cerebral atrophy, Growt...	OMIM:614886
Frontal Encephalocele	Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor...	ORPHA:1931
Huntington Disease	Caudate atrophy, Chorea, Cerebral atrophy, Weight loss, Abnormal cerebral white matter morphology...	ORPHA:399
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Chiari malformation, Frontal encephalocele	ORPHA:261102
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Decreased nasal nitric oxide, Abdominal situs inversus, Cough, Recurrent otitis media, Chronic si...	OMIM:619607
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Respiratory insufficiency due to muscle weakness, Hydrocephalus, Progressive microc...	OMIM:615249
Holoprosencephaly	Encephalocele, Diabetes mellitus, Failure to thrive in infancy, Diabetes insipidus, Microcephaly,...	ORPHA:2162
Rabin-Pappas Syndrome	Mandibular prognathia, Hypoventilation, Failure to thrive in infancy, Micrognathia, Hypoplasia of...	OMIM:620155
Lacrimal Duct Defect	Sinusitis, Conjunctivitis	OMIM:149700
Walker-Warburg Syndrome	Ventriculomegaly, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Cryptorchid...	ORPHA:899
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Cerebral calcification, Ataxia, Hydrocephalus, Craniofacial osteosclerosis, Chi...	OMIM:618476
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Ataxia, Short stature, Micrognathia, Hypoplasia of the maxilla, Dys...	ORPHA:314679
Dextrocardia	Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hypoplasia, Hydrocephalus	ORPHA:1666
Isaacs Syndrome	Weight loss, Distal sensory impairment	ORPHA:84142
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Pancytopenia, Hydrocephalus	OMIM:231005
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Encephalocele, Short stature, Microcephaly, Micrognathia, Hydrocephalus, M...	ORPHA:1908
Biemond Syndrome Ii	Abnormality of the endocrine system, Hydrocephalus, Short stature	OMIM:210350
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Cerebral calcification, Abnormality of the pharynx, Diabe...	ORPHA:1775
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Dysplastic corpus callosum, Cholestasis, Leukoencephalopathy, Macrovesicular hepati...	OMIM:614924
Congenital Muscular Dystrophy, Fukuyama Type	Type II lissencephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Intrauterine gro...	ORPHA:272
Sweeney-Cox Syndrome	Asplenia, Bilateral cryptorchidism, Cerebellar hypoplasia, Micrognathia	OMIM:617746
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Decreased response to growth hormone stimulation test, Asthma, Recurrent...	OMIM:615577
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Severe short stature, Short stature, Postnatal growth retardation, Splenomegaly, Hy...	OMIM:253220
Adams-Oliver Syndrome 2	Micrognathia, Microcephaly, Hydrocephalus, Cerebral atrophy, Retrocerebellar cyst, Lateral ventri...	OMIM:614219
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Hydrocephalus, Anencephaly, Polysplenia	ORPHA:1335
Isotretinoin-Like Syndrome	Microcephaly, Postnatal growth retardation, Micrognathia, Hydrocephalus, Intrauterine growth reta...	ORPHA:2306
Lowry-Maclean Syndrome	Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Abnormality of the ab...	ORPHA:2409
Sarcoidosis	Abnormal cerebrospinal fluid morphology, Increased T cell count, Uveitis, Leukopenia, Tubulointer...	ORPHA:797
Stevens-Johnson Syndrome	Abnormality of neutrophils, Thrombocytopenia, Dyspnea, Weight loss, Restrictive ventilatory defec...	ORPHA:36426
Cockayne Syndrome A	Mandibular prognathia, Basal ganglia calcification, Hepatomegaly, Ataxia, Short stature, Cryptorc...	OMIM:216400
Mcdonough Syndrome	Mandibular prognathia, Short stature, Cachexia, Micrognathia, Cryptorchidism, Dental malocclusion	ORPHA:2471
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Weight loss, Testicular teratoma	ORPHA:764
Moynahan Syndrome	Short stature, Hypogonadism, Cachexia, Microcephaly	ORPHA:2574
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Paresthesia, Anemia	OMIM:175500
Pontocerebellar Hypoplasia, Type 7	Ventriculomegaly, Apnea, Ataxia, Micrognathia, Hypoplasia of the pons, Cryptorchidism, Hydrocepha...	OMIM:614969
Flynn-Aird Syndrome	Cerebral calcification, Ataxia, Cachexia, Impaired pain sensation, Carious teeth, Abnormality of ...	ORPHA:2047
Cardiofaciocutaneous Syndrome 1	Failure to thrive, Short stature, Micrognathia, Splenomegaly, Hydrocephalus, Dental malocclusion,...	OMIM:115150
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly	OMIM:619955
Cockayne Syndrome B	Mandibular prognathia, Basal ganglia calcification, Hepatomegaly, Ataxia, Cerebellar calcificatio...	OMIM:133540
Central Neurocytoma	Pain insensitivity, Cerebral calcification, Ataxia, Abnormal lateral ventricle morphology, Hydroc...	ORPHA:73256
Oculoskeletodental Syndrome	Short stature, Dysplastic corpus callosum, Enamel hypoplasia, Retrognathia, Focal white matter le...	ORPHA:557003
Riboflavin Transporter Deficiency	Ataxia, Cachexia, Respiratory insufficiency, Hypogonadism, Diabetes insipidus, Cerebral cortical ...	ORPHA:97229
Vipoma	Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas...	ORPHA:97282
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Dyspnea, Leuko...	ORPHA:293173
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Microcephaly, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus c...	OMIM:615599
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Ataxia, Acne, Pulmonary embolism, Orchit...	ORPHA:117
Monosomy 18Q	Mandibular prognathia, Short stature, Microcephaly, Bilateral cryptorchidism, Hypothyroidism, Dif...	ORPHA:1600
Fanconi Anemia, Complementation Group L	Micrognathia, Hydrocephalus, Growth delay, Bone marrow hypocellularity, Cerebellar hypoplasia, In...	OMIM:614083
Camurati-Engelmann Disease	Delayed eruption of teeth, Hepatomegaly, Ataxia, Cachexia, Carious teeth, Splenomegaly, Craniofac...	ORPHA:1328
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Mandibular prognathia, Microcephaly, Focal polymicrogyria, Dysplastic corpus ...	OMIM:619103
Hydrolethalus	Absent septum pellucidum, Micrognathia, Cryptorchidism, Hydrocephalus, Anencephaly, Laryngomalaci...	ORPHA:2189
Fumarase Deficiency	Necrotizing enterocolitis, Failure to thrive, Polycythemia, Microcephaly, Intrahepatic cholestasi...	OMIM:606812
Renpenning Syndrome	Mandibular prognathia, Diabetes mellitus, Severe short stature, Cachexia, Microcephaly, Growth de...	ORPHA:3242
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Abnormal dental enamel morphology, Supernumerary nipple, Cryptorchidism, Hypothyroidism, Hydrocep...	ORPHA:1812
Toxic Epidermal Necrolysis	Respiratory distress, Cough, Weight loss, Anemia, Restrictive ventilatory defect, Conjunctivitis,...	ORPHA:537
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Apnea, Hydrocephalus, Abnormality of the hyp...	ORPHA:220497
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age...	OMIM:307000
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Short stature, Hydrocephalus, Obesity, Abnormality of the hypotha...	ORPHA:2183
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Apnea, Splenomegaly, Hydrocephalus, Lymphadenopathy, Gro...	ORPHA:667
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Cerebellar vermis hypoplasia, Short stature, Micrognathia, Hydrocephalus, Tubulointerstitial neph...	ORPHA:459061
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Supernumerary nipple, Micrognathia, Cryptorchidism, Hydrocephalus, Leukemia	OMIM:619951
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Skin rash, Elevated circulating growth...	ORPHA:97280
Hurler Syndrome	Hepatomegaly, Short stature, Splenomegaly, Hydrocephalus, Enlarged tonsils, Hepatosplenomegaly, R...	OMIM:607014
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Hydrocephalus, Respiratory insufficiency, Chiari malformation, Aplasia...	ORPHA:93262
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Bronchospasm, Atypical pulmonar...	ORPHA:100080
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Tempi Syndrome	Transudative pleural effusion, Hypoxemia, Increased circulating IgG level, Increased hematocrit, ...	ORPHA:284227
Hurler Syndrome	Hepatomegaly, Short stature, Abnormality of the tonsils, Splenomegaly, Hydrocephalus, Growth dela...	ORPHA:93473
Addison Disease	Normocytic anemia, Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular f...	ORPHA:85138
Giant Cell Arteritis	Pericarditis, Ataxia, Epistaxis, Mediastinal lymphadenopathy, Recurrent pharyngitis, Weight loss,...	ORPHA:397
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp...	ORPHA:2182
Acalvaria	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Basal ganglia calcification, Elevated circulating thyroid-stimulating hormone ...	OMIM:256040
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary...	ORPHA:90003
Nocardiosis	Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem...	ORPHA:31204
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cerebral white matter atrophy, Failure to thrive, Short stature, Microcephaly, Overweight, Crypto...	ORPHA:500055
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Neonatal respiratory distress, Cerebellar vermis hypoplasia, Cerebral calcification...	ORPHA:157
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co...	ORPHA:97283
Chronic Hiccup	Weight loss	ORPHA:396
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Secondary microcephaly, Hypoplasia of the corpus callosum, Cerebral atrophy	ORPHA:397951
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased serum insulin-like growth factor 1, Rhizomelia, Allergic rhinitis, Eczema, Asthma, Hydr...	OMIM:618162
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas...	OMIM:275000
Joubert Syndrome 2	Central apnea, Neonatal breathing dysregulation, Encephalocele, Agenesis of cerebellar vermis, At...	OMIM:608091
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con...	OMIM:611783
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Cerebral calcification, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic ...	OMIM:617281
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Lower limb dysmetria, Short stature, Micrognathia, Hydrocephalus, Abnormality of the s...	ORPHA:363700
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss	ORPHA:99978
Joubert Syndrome 14	Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus...	OMIM:614424
Alpha-Mannosidosis, Infantile Form	Cerebellar atrophy, Mandibular prognathia, Pancytopenia, Communicating hydrocephalus, Ataxia, Pne...	ORPHA:309282
Cutis Laxa, Autosomal Recessive, Type Iib	Microcephaly, Hydrocephalus, Malar flattening, Failure to thrive, Agenesis of corpus callosum, In...	OMIM:612940
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Hepatomegaly, Short stature, Pneumonia, Carious teeth, Splenomegaly, H...	OMIM:253200
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal basal ganglia MRI signal intensity, Hepatomegaly, Portal hypertension, Microcephaly, Spl...	ORPHA:309854
Immunodeficiency 58	Recurrent cutaneous abscess formation, Short stature, Eczema, Allergic rhinitis, Seborrheic derma...	OMIM:618131
Idiopathic Bronchiectasis	Crackles, Productive cough, Cachexia, Dyspnea, Wheezing, Abnormal respiratory system physiology, ...	ORPHA:60033
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Apnea, Hydrocephalus, Abnormality of the hyp...	ORPHA:220493
Immunodeficiency 56	Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori...	OMIM:615207
Pettigrew Syndrome	Mandibular prognathia, Ventriculomegaly, Cerebellar vermis hypoplasia, Cerebral calcification, Mi...	OMIM:304340
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Neonatal respiratory distress, Cerebellar vermis hypoplasia, Cerebral calcification...	ORPHA:228308
Trisomy 1Q	Microretrognathia, Cryptorchidism, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus callo...	ORPHA:261344
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Cachexia, Micrognathia, Microcephaly, Respiratory insufficiency, Respiratory ...	OMIM:618186
African Trypanosomiasis	Impaired proprioception, Choreoathetosis, Conjunctivitis, Iritis, Hepatomegaly, Abnormality of th...	ORPHA:3385
Jacobsen Syndrome	Microcephaly, Micrognathia, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Intrauterine growth...	OMIM:147791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Respiratory insufficienc...	OMIM:253800
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Cryptorchidism, Hydrocephalus, Retrognathia, Secondary microcephaly, Lissencephaly, Intrauterine ...	OMIM:612938
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Polymicrogyria, Megalencephaly	ORPHA:83473
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Asplenia, Pulmonary arterial hypertension, Annular panc...	ORPHA:210122
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Natal tooth, Splenomegaly, Hydrocephalus, Anencephaly, Respiratory insufficiency, P...	OMIM:269860
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia, Short stature, Subglottic stenosis, Laryngomalacia	OMIM:619657
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Agyria, Type II lissencephaly, Micrognathia, Microceph...	OMIM:236670
Fg Syndrome Type 1	Short stature, Micrognathia, Abnormal cerebellum morphology, Cryptorchidism, Hydrocephalus, Aplas...	ORPHA:93932
1Q44 Microdeletion Syndrome	Short stature, Microcephaly, Micrognathia, Hydrocephalus, Growth delay, Agenesis of corpus callos...	ORPHA:238769
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Micrognathia, Partial agenesis of the corpus callosum, Chiari type I ma...	OMIM:270400
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cerebral calcification, Ataxia, Short stature, Cachexia, Microcephaly, Ventriculomegaly	ORPHA:1933
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Cryptorchidism, Hydrocephalus, Short stature	ORPHA:2701
Ileal Neuroendocrine Tumor	Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Iron deficiency anemia, Small intestine c...	ORPHA:100078
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Ataxia, Noncommunicating hydrocephalus, Micrognathia	OMIM:619320
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con...	OMIM:617907
Cystic Fibrosis	Sinusitis, Reduced forced expiratory volume in one second, Asthma, Pneumothorax, Bronchiectasis, ...	ORPHA:586
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Hepatomegaly, Asplenia, Aqueductal stenosis, Myelomeningocele, Hydrocephalu...	OMIM:306955
Wolf-Hirschhorn Syndrome	Accessory spleen, Small for gestational age, Absent septum pellucidum, Short stature, Micrognathi...	OMIM:194190
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Bronchospasm, Atypical pulmonar...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Bronchospasm, Atypical pulmonar...	ORPHA:100082
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, Short stature, Microcephaly	OMIM:300558
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Microcephaly, Leukocytosis, Hydrocephalus, Abdominal obesity, Hypoplasia of the ov...	OMIM:619321
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus ...	OMIM:616801
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Short stature, Microcephaly, Cryptorchidism, Hydrocephalus, Respiratory insuf...	ORPHA:163979
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Cereb...	ORPHA:1647
Neurooculorenal Syndrome	Subglottic stenosis, Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Decreased circula...	OMIM:620305
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator...	ORPHA:79127
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive, Respiratory insufficiency, Micrognathia	ORPHA:1895
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Cerebellar atrophy, Ventriculomegaly, Increased mean platelet volume, Microcephaly, Abnormality o...	ORPHA:487796
Choanal Atresia	Subglottic stenosis, Respiratory distress, Upper airway obstruction, Laryngomalacia, Tracheomalac...	ORPHA:137914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar dysplasia, Encephalocele, Ventriculomegaly, Microcephaly, Partial absence of cerebella...	OMIM:613150
Crouzon Syndrome	Hypoplasia of the maxilla, Hydrocephalus, Respiratory insufficiency, Chiari malformation, Conjunc...	ORPHA:207
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Ventriculomegaly, Agyria, Type II lissencephaly, Partial agenesis of the corpus ca...	OMIM:614643
Choreoacanthocytosis	Impaired vibratory sensation, Hepatomegaly, Caudate atrophy, Temporomandibular joint crepitus, Ac...	ORPHA:2388
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Disproportionate short-trunk short stature, Hydrocephalus, Small for gestational age, Microcephaly	OMIM:613330
Isolated Succinate-Coq Reductase Deficiency	Severe short stature, Ataxia, Proportionate short stature, Weight loss, Intrauterine growth retar...	ORPHA:3208
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Chiari malformation, Aplasia/Hypoplasia of the cerebellum, Failure to thrive, Poly...	ORPHA:60040
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Micrognathia, Hypoplasia of the pons, Microcephaly, Partial agenesis of th...	OMIM:619512
Meckel Syndrome, Type 3	Hepatomegaly, Occipital encephalocele, Malformation of the hepatic ductal plate, Hydrocephalus, B...	OMIM:607361
Papillary Tumor Of The Pineal Region	Episodic ataxia, Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Glutaric Acidemia I	Hepatomegaly, Hydrocephalus, Choreoathetosis, Lateral ventricle dilatation, Failure to thrive	OMIM:231670
Hajdu-Cheney Syndrome	Hepatomegaly, Short stature, Micrognathia, Absent frontal sinuses, Splenomegaly, Hydrocephalus, A...	ORPHA:955
Orofaciodigital Syndrome I	Microretrognathia, Short stature, Abnormal cortical gyration, Microcephaly, Pancreatic cysts, Car...	OMIM:311200
Marshall-Smith Syndrome	Apnea, Bilateral cryptorchidism, Aspiration pneumonia, Pachygyria, Agenesis of corpus callosum, R...	OMIM:602535
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Cerebellar hypoplasia, Hyp...	OMIM:613001
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Brain abscess, Central apnea, Severe short stature, Rhizomelia, Megalenceph...	OMIM:616482
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Communicating hydrocephalus, Hyperparathyroidism, Ovarian cyst, Splenic cys...	OMIM:618188
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Short stature, Cachexia, Microcephaly, Micrognathia, Hypoplasia of the corpus callosum, Hyperesth...	ORPHA:371364
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Micrognathia, Hydrocep...	OMIM:220210
Hydrolethalus Syndrome 1	Accessory spleen, Absent septum pellucidum, Abnormal cortical gyration, Laryngeal hypoplasia, Mic...	OMIM:236680
Gorlin Syndrome	Mandibular prognathia, Cerebral calcification, Hypogonadotropic hypogonadism, Carious teeth, Cryp...	ORPHA:377
Endocrine-Cerebroosteodysplasia	Natal tooth, Absent septum pellucidum, Adrenal hypoplasia, Laryngeal hypoplasia, Micrognathia, Fo...	OMIM:612651
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Micrognathia, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Lissenc...	OMIM:617822
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Apnea, Episodic tachypnea, Hydrocephalus, Ap...	ORPHA:475
Alexander Disease	Cerebral calcification, Ataxia, Diabetes mellitus, Megalencephaly, Precocious puberty, Hypothyroi...	ORPHA:58
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate	ORPHA:2736
Thanatophoric Dysplasia Type 2	Encephalocele, Short stature, Hydrocephalus, Respiratory insufficiency, Holoprosencephaly, Ventri...	ORPHA:93274
Mucolipidosis Type Ii	Respiratory failure requiring assisted ventilation, Short stature, Postnatal growth retardation, ...	ORPHA:576
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Short stature, Anterior pituitary hypoplasia, Micrognathia, Microcephaly, ...	OMIM:151050
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Absent septum pellucidum, Hypoplasia of the max...	ORPHA:87
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Ventriculomegaly, Short stature, Spina bifida, Microg...	ORPHA:84
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Ataxia, Cachexia, Hepatic steatosis, Exertional dyspnea	ORPHA:42
Genitopalatocardiac Syndrome	Microcephaly, Micrognathia, Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gal...	ORPHA:2075
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Tetrasomy 5P	Respiratory distress, Pericallosal lipoma, Micrognathia, Postnatal growth retardation, Hydrocepha...	ORPHA:3309
Chromosome 6Pter-P24 Deletion Syndrome	Malar flattening, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Respiratory insufficiency	ORPHA:157973
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Cockayne Syndrome	Cerebral calcification, Basal ganglia calcification, Progressive gait ataxia, Hepatomegaly, Ataxi...	ORPHA:191
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Cachexia	ORPHA:1144
Truncus Arteriosus	Adrenocortical abnormality, Intrauterine growth retardation, Tachypnea, Hypoplasia of the thymus	ORPHA:3384
Thanatophoric Dysplasia	Hydrocephalus, Respiratory insufficiency, Disproportionate short-limb short stature, Intrauterine...	ORPHA:2655
Inflammatory Bowel Disease (Crohn Disease) 1	Ulcerative colitis, Weight loss, Growth delay, Inflammation of the large intestine, Recurrent aph...	OMIM:266600
Rhombencephalosynapsis	Microretrognathia, Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cereb...	ORPHA:59315
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Probst bundles, Hydrocephalus, Growth delay, Lateral ventricle dilatation, ...	OMIM:612863
47,Xyy Syndrome	Macroorchidism, Cryptorchidism, Asthma, Increased circulating gonadotropin level, Hydrocephalus, ...	ORPHA:8
Nephronophthisis 18	Tubulointerstitial nephritis, Hydrocephalus, Portal fibrosis, Cholestasis	OMIM:615862
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Abnormal dental enamel morphology, Hydrocephalus, Obesity, Malar flattening	ORPHA:2180
Feingold Syndrome 1	Accessory spleen, Micrognathia, Asplenia, Microcephaly, Polysplenia, Annular pancreas	OMIM:164280
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Short stature, Cachexia, Microcephaly, Recurrent p...	ORPHA:647
Acute Adrenal Insufficiency	Normocytic anemia, Decreased circulating cortisol level, Adrenal hypoplasia, Primary adrenal insu...	ORPHA:95409
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Apnea, Hydrocephalus, Tachypnea, Aplasia/Hyp...	ORPHA:2318
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Bresek Syndrome	Microcephaly, Cryptorchidism, Hydrocephalus, Growth delay, Intrauterine growth retardation, Decre...	ORPHA:85284
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Microcephaly, Short stature, Respiratory insuffic...	ORPHA:702
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Failure to thrive, Pachygyria, Polymicrogyria	ORPHA:2328
Tetraamelia Syndrome 1	Asplenia, Adrenal gland agenesis, Hydrocephalus, Micrognathia	OMIM:273395
Malignant Peritoneal Mesothelioma	Dyspnea, Peritonitis, Weight loss	ORPHA:168811
Pseudoaminopterin Syndrome	Short stature, Micrognathia, Asplenia, Cryptorchidism, Hydrocephalus	ORPHA:221120
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Hydrocephalus, Growth delay, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:77298
Mucopolysaccharidosis Type 3	Hepatomegaly, Craniofacial hyperostosis, Ataxia, Adenoiditis, Splenomegaly, Hydrocephalus, Recurr...	ORPHA:581
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Acne, Absent septum pellucidum, Megalencephaly,...	OMIM:101200
Hereditary Central Diabetes Insipidus	Growth delay, Diabetes insipidus, Weight loss	ORPHA:30925
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss, Growth delay, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Exocrine ...	ORPHA:309031
Histiocytoid Cardiomyopathy	Hepatomegaly, Hydrocephalus, Tachypnea, Polycystic ovaries, Cough, Laryngeal web, Cerebellar malf...	ORPHA:137675
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Wei...	ORPHA:49041
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Megalencephaly, Hydrocephalus, Thick corpus callosum, Hypoplasia of the corpus callosum, Pachygyr...	OMIM:603387
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Mild postnatal growt...	OMIM:101800
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Simplified gyral pattern, Cerebellar hemisphere hypoplasia, Emphysema,...	ORPHA:500150
Classic Pantothenate Kinase-Associated Neurodegeneration	Eye of the tiger anomaly of globus pallidus, Weight loss, Aspiration pneumonia, Cough	ORPHA:216866
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Pallidal degeneration, Ataxia, T2 hypointense basal ganglia, Abnorma...	ORPHA:25
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Pseudotrisomy 13 Syndrome	Encephalocele, Adrenal hypoplasia, Microcephaly, Cryptorchidism, Hydrocephalus, Cerebellar hypopl...	OMIM:264480
Zttk Syndrome	Absent gallbladder, Failure to thrive, Short stature, Hypoplasia of the maxilla, Dysplastic corpu...	OMIM:617140
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,...	OMIM:615219
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Carious teeth, Dysplastic corpus callosum, Dental malocclusion, Retrognathia, Ventriculomegaly	ORPHA:363444
Hermansky-Pudlak Syndrome	Epistaxis, Abnormal dental enamel morphology, Dyspnea, Weight loss, Neutropenia	ORPHA:79430
Hemangioblastoma	Dysesthesia, Cerebellar edema, Hydrocephalus, Cerebellar hemangioblastoma	ORPHA:252054
Myopathy, Centronuclear, X-Linked	Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Cryptorchidism...	OMIM:310400
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla...	ORPHA:97261
Desmosterolosis	Rhizomelia, Microcephaly, Micrognathia, Partial agenesis of the corpus callosum, Hydrocephalus, A...	OMIM:602398
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth...	OMIM:613239
Central Diabetes Insipidus	Failure to thrive, Diabetes insipidus, Weight loss	ORPHA:178029
3C Syndrome	Ventriculomegaly, Short stature, Adrenal hypoplasia, Micrognathia, Postnatal growth retardation, ...	ORPHA:7
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr...	ORPHA:91348
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Infantile Krabbe Disease	Respiratory distress, Diffuse cerebral atrophy, Hypointensity of cerebral white matter on MRI, Ca...	ORPHA:206436
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Micrognathia, Cryptorchidism, Hydrocephalus, Abnormality of the larynx, Ag...	ORPHA:3301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Respiratory failure, Hypopla...	OMIM:616538
Vitamin K Antagonist Embryofetopathy	Intrauterine growth retardation, Myelomeningocele, Hydrocephalus, Respiratory insufficiency	ORPHA:1914
Secondary Short Bowel Syndrome	Enterocolitis, Cholestasis, Weight loss, Central hypothyroidism, Growth delay, Primary hypothyroi...	ORPHA:95427
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Hypogonadism, Obesity	OMIM:601794
Tenorio Syndrome	Mandibular prognathia, Hypoinsulinemia, Apnea, Hydrocephalus, Recurrent pneumonia, Keratoconjunct...	OMIM:616260
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus	OMIM:300886
Craniopharyngioma	Enlarged pituitary gland, Cerebral calcification, Hypogonadotropic hypogonadism, Neoplasm of the ...	ORPHA:54595
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Pain insensitivity, Short stature, Decreased response to growth hormone st...	OMIM:616007
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Cerebellar vermis hypoplasia, Asplenia, Large basal ganglia, Chiari type I...	ORPHA:261537
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ataxia, Apnea, Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Abnormal p...	ORPHA:395
Hirschsprung Disease	Neoplasm of the thyroid gland, Failure to thrive in infancy, Short stature, Weight loss	ORPHA:388
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve...	OMIM:615287
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Holoprosencephaly 14	Cerebellar atrophy, Ventriculomegaly, Absent septum pellucidum, Microcephaly, Alobar holoprosence...	OMIM:619895
Heterotaxy, Visceral, 5, Autosomal	Cerebellar atrophy, Asplenia, Cerebral atrophy, Abdominal situs inversus, Cerebellar hypoplasia, ...	OMIM:270100
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebellar atrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Cerebral atrophy, Cerebellar hyp...	OMIM:618590
Polymyositis	Hepatomegaly, Pericarditis, Respiratory insufficiency, Weight loss, Arthritis, Cough, Exertional ...	ORPHA:732
Metatropic Dysplasia	Hydrocephalus, Severe short stature	ORPHA:2635
Optic Pathway Glioma	Precocious puberty, Hydrocephalus, Growth delay	ORPHA:2086
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Micrognathia, Hydrocephalus, Cerebellar hypoplasia, Intrauterine growt...	ORPHA:163966
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Peho Syndrome	Cerebellar atrophy, Microcephaly, Hydrocephalus, Porencephalic cyst, Malar flattening, Cerebral c...	ORPHA:2836
X-Linked Creatine Transporter Deficiency	Ataxia, Short stature, Cachexia, Microcephaly, Chorea, Athetosis, Malar flattening	ORPHA:52503
Gerstmann-Straussler Disease	Cerebellar atrophy, Neurofibrillary tangles, Limb ataxia, Gait ataxia, Weight loss, Truncal ataxia	OMIM:137440
Silver-Russell Syndrome	Failure to thrive in infancy, Short stature, Cachexia, Micrognathia, Precocious puberty, Cryptorc...	ORPHA:813
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Amelocerebrohypohidrotic Syndrome	Abnormality of dental color, Short stature, Abnormal dental enamel morphology, Hydrocephalus, Yel...	ORPHA:1946
1Q21.1 Microdeletion Syndrome	Short stature, Microcephaly, Cryptorchidism, Hydrocephalus, Intrauterine growth retardation, Fail...	ORPHA:250989
Malignant Atrophic Papulosis	Pain insensitivity, Peritonitis, Weight loss, Respiratory failure, Ischemic stroke, Arteritis, Pl...	ORPHA:679
Houge-Janssens Syndrome 1	Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly, Gait ataxia	OMIM:616355
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Neonatal respiratory distress, Micrognathia, Asplenia, Pulmonary lymphangiectasia, Choroid plexus...	OMIM:265380
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Natal tooth, Absent nipple, Aplasia of the thymus, Short stature, Micrognathia, Carious teeth, Co...	OMIM:620186
19Q13.11 Microdeletion Syndrome	Cachexia, Microcephaly, Supernumerary nipple, Cryptorchidism, Retrognathia, Growth delay, Intraut...	ORPHA:217346
15Q Overgrowth Syndrome	Mandibular prognathia, Microretrognathia, Malar flattening, Micrognathia, Hydrocephalus, Pulmonar...	ORPHA:314585
Lynch Syndrome	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Weight loss, Ovarian neop...	ORPHA:144
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Type I diabetes mellitus, Weight loss, Cachexia, Micrognathia	ORPHA:1979
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Hyperthyroidism, Weight loss	OMIM:188580
Trisomy 17P	Short stature, Microcephaly, Micrognathia, Hydrocephalus, Growth delay, Malar flattening, Intraut...	ORPHA:261290
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Posterior fossa cyst at the fourth ventricle, Mi...	ORPHA:2356
Holoprosencephaly 9	Short stature, Hypoplasia of the premaxilla, Abnormal cortical gyration, Microcephaly, Hypoplasia...	OMIM:610829
Cystinosis, Nephropathic	Hepatomegaly, Cerebral calcification, Failure to thrive in infancy, Diabetes mellitus, Short stat...	OMIM:219800
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo...	ORPHA:913
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, W...	ORPHA:91500
Muscle-Eye-Brain Disease	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Asthma, Weight loss, Arthritis, Ke...	OMIM:617321
Marden-Walker Syndrome	Failure to thrive, Severe short stature, Absent septum pellucidum, Micrognathia, Microcephaly, Hy...	ORPHA:2461
Cog1-Cdg	Cerebellar vermis hypoplasia, Rhizomelia, Micrognathia, Postnatal growth retardation, Temporal co...	ORPHA:263508
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Mowat-Wilson Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Asplenia, Large basal ganglia, Agenesis of c...	ORPHA:2152
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Weight loss, Ovarian neop...	ORPHA:440437
Hypercalcemia, Infantile, 1	Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss	OMIM:143880
8P23.1 Microdeletion Syndrome	Short stature, Microcephaly, Micrognathia, Cryptorchidism, Obesity, Weight loss, Growth delay, In...	ORPHA:251071
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Microlissenc...	OMIM:210710
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Natal tooth, Hydrocephalus, Chiari malformation, Malar flattening, Agenesis...	OMIM:123790
Rett Syndrome	Intermittent hyperventilation, Apnea, Cachexia, Short stature, Gait ataxia, Secondary microcephal...	OMIM:312750
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Cerebellar vermis hypoplasia, Asplenia, Large basal ganglia, Chiari type I...	ORPHA:261552
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Paranasal sinus hypoplasia, Apnea, Laryngeal web, Short stature, Micrognathia, Parti...	OMIM:300373
Dural Sinus Malformation	Somatic sensory dysfunction, Ataxia, Abnormal cerebellum morphology, Myelopathy, Hydrocephalus, H...	ORPHA:97339
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Abnorm...	ORPHA:97278
Cerebral Visual Impairment	Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Ischemic stroke, Abnormal...	ORPHA:447788
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Pineal cyst, Chiari type I malformation, H...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Pineal cyst, Chiari type I malformation, H...	ORPHA:363958
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Ataxia, Impaired distal proprioception, Hypoesthesia, Impaired distal vibration sensation, Dysmet...	OMIM:607459
Fatal Familial Insomnia	Cerebral cortex with spongiform changes, Ataxia, Apnea, Weight loss	OMIM:600072
Wild Type Attr Amyloidosis	Hepatomegaly, Pleural effusion, Weight loss	ORPHA:330001
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Paraganglioma, Weight loss	ORPHA:94080
Perry Syndrome	Central hypoventilation, Weight loss	ORPHA:178509
Congenital Tufting Enteropathy	Weight loss, Arthritis, Cholestatic liver disease, Punctate keratitis, Failure to thrive	ORPHA:92050
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Abnormality of the pancreas, Cryptorchidism, Hydrocephalus, Hypoplasia of t...	ORPHA:1555
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Absent septum pellucidum, Micrognathia, Dysplastic corpus callosum, Cryptorchidism,...	OMIM:618820
Osteogenesis Imperfecta	Abnormality of dental color, Micrognathia, Osteoarthritis, Neonatal respiratory distress, Ataxia,...	ORPHA:666
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of the premaxilla, Adrenal hypoplasia, Microcephaly, Micrognathia, Cryp...	ORPHA:2166
Thanatophoric Dysplasia, Type I	Neonatal respiratory distress, Hydrocephalus, Disproportionate short-limb short stature, Temporal...	OMIM:187600
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ataxia, Dysplastic corpus callosum, Cryptorchidism, Thick corpus callosum, Pineal cyst, Cerebella...	OMIM:300967
Trisomy 8P	Microcephaly, Cryptorchidism, Hydrocephalus, Recurrent upper respiratory tract infections, Aplasi...	ORPHA:264450
Pancreatoblastoma	Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Short stature, Cachexia	ORPHA:1389
Distal Triplication 15Q	Large for gestational age, Micrognathia, Hydrocephalus, Hydrocele testis, Intrauterine growth ret...	ORPHA:314588
Short Syndrome	Diabetes mellitus, Severe short stature, Abnormal dental enamel morphology, Abnormal zygomatic bo...	ORPHA:3163
7Q11.23 Microduplication Syndrome	Short stature, Tracheomalacia, Micrognathia, Cryptorchidism, Hydrocephalus, Dental malocclusion, ...	ORPHA:96121
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle...	OMIM:613154
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ataxia, Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Dysplastic...	ORPHA:466791
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Severe short stature, Microcephaly, Micrognathia, Cryptorchidism, Hydrocephalus, R...	ORPHA:1865
Meckel Syndrome, Type 6	Absent gallbladder, Occipital encephalocele, Hydrocephalus, Anencephaly, Cystic liver disease, Bi...	OMIM:612284
Kabuki Syndrome 1	Hemolytic anemia, Short stature, Premature thelarche, Micrognathia, Autoimmune thrombocytopenia, ...	OMIM:147920
Alobar Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Short s...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Short s...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Short s...	ORPHA:93924
Semilobar Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Short s...	ORPHA:220386
Lhermitte-Duclos Disease	Ataxia, Enlarged cerebellum, Hydrocephalus, Ovarian neoplasm, Polymicrogyria, Neoplasm of the thy...	ORPHA:65285
Juvenile Amyotrophic Lateral Sclerosis	Ataxia, Cachexia, Microcephaly, Abnormal cerebellum morphology, Chorea	ORPHA:300605
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Bullous Pemphigoid	Diabetes mellitus, Psoriasiform dermatitis, Eczema, Weight loss	ORPHA:703
Trisomy 18	Microretrognathia, Short stature, Cachexia, Microcephaly, Spina bifida, Cryptorchidism, Anencepha...	ORPHA:3380
Lateral Meningocele Syndrome	Short stature, Micrognathia, Cryptorchidism, Hydrocephalus, Meningocele, Chiari type I malformati...	OMIM:130720
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Cachexia, Micrognathia	ORPHA:1438
Keutel Syndrome	Sinusitis, Cartilaginous ossification of larynx, Cerebral calcification, Recurrent otitis media, ...	OMIM:245150
Lymphangioleiomyomatosis	Dyspnea, Hydrocephalus, Abnormality of the lymphatic system, Pneumothorax, Lymphadenopathy, Restr...	ORPHA:538
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Tetrasomy 12P	Delayed eruption of teeth, Short stature, Cachexia	ORPHA:884
Juvenile Polyposis Of Infancy	Refractory anemia, Cachexia, Short stature, Anemia	ORPHA:79076
Cole-Carpenter Syndrome 2	Microretrognathia, Short stature, Postnatal growth retardation, Hydrocephalus, Dentinogenesis imp...	OMIM:616294
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Myocarditis, Respiratory insufficiency, Weight loss...	ORPHA:221
Costello Syndrome	Short stature, Micrognathia, Enlarged cerebellum, Pneumothorax, Hydrocephalus, Respiratory insuff...	OMIM:218040
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Hydrocephalus, Athetosis, Malar flattening, Cerebral cortical atrophy	OMIM:239300
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Pelvis-Shoulder Dysplasia	Short stature, Spina bifida, Micrognathia, Mesomelic/rhizomelic limb shortening, Hydrocephalus, N...	ORPHA:2839
Achondroplasia	Rhizomelia, Hydrocephalus, Disproportionate short stature, Obesity, Hypoxemia, Restrictive ventil...	ORPHA:15
Aymé-Gripp Syndrome	Pericarditis, Short stature, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Breast ...	ORPHA:1272
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Mild short stature, Hyposegmentation of neutrophil nuclei, Rhizomelia, Disproportionate short-lim...	OMIM:618019
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Acrodermatitis Enteropathica	Short stature, Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis, C...	ORPHA:37
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Erythroderma	ORPHA:312
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Mandibular prognathia, Communicating hydrocephalus, Megalencephaly, Large for...	OMIM:617011
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Ataxia, Cachexia, Microcephaly, Short stature, Hydrocephalus	ORPHA:220295
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Neoplasm of the liver, Hypoinsulinemia, Weight loss	ORPHA:2126
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Chiari type I malformation, Agenesis of co...	ORPHA:3455
Czeizel-Losonci Syndrome	Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, Hypoplastic nipples, Spina bifida oc...	ORPHA:2437
Spondylocostal Dysostosis 4, Autosomal Recessive	Short stature, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Mye...	OMIM:613686
Holoprosencephaly 7	Hypoplasia of the premaxilla, Microcephaly, Alobar holoprosencephaly, Partial agenesis of the cor...	OMIM:610828
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Hepatomegaly, Short stature, Splenomegaly, Recurrent upper respirato...	ORPHA:580
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short stature, Overweight, Dilated third ventricle, Hydrocephalus, Chiari type I malformation, La...	OMIM:619575
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Microcephaly, Megalencephaly, Hydrocephalus, Hydrocele ...	OMIM:613603
Perry Syndrome	Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Respiratory arrest	OMIM:168605
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Hydrocephalus, Short stature, Intrauterine growth retardation	OMIM:300863
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Cerebral white matter atrophy, Failure to thrive, Short stature, Abnormal g...	ORPHA:99646
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Weight loss	OMIM:191390
Glossopharyngeal Neuralgia	Chiari type I malformation, Dysesthesia, Mandibular pain, Weight loss	ORPHA:221098
Tetrasomy 15Q26	Microretrognathia, Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Monosomy 9Q22.3	Delayed eruption of teeth, Ovarian fibroma, Large for gestational age, Hydrocephalus, Chiari malf...	ORPHA:77301
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Opitz-Kaveggia Syndrome	Short stature, Micrognathia, Cryptorchidism, Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:305450
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Failure to thrive, Apnea, Micrognathia, Hypoplasia of the maxilla, M...	ORPHA:2462
Plasminogen Deficiency, Type I	Ventriculomegaly, Hydrocephalus, Recurrent upper respiratory tract infections, Conjunctivitis, Ce...	OMIM:217090
Oxoglutaric Aciduria	Abnormal salivary gland morphology, Ataxia, Hydrocephalus, Short stature	ORPHA:31
Polyarteritis Nodosa	Pericarditis, Weight loss	ORPHA:767
Neurofibromatosis Type 1	Ataxia, Short stature, Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, H...	ORPHA:636
Thanatophoric Dysplasia Type 1	Hydrocephalus, Lethal short-limbed short stature, Ventriculomegaly, Respiratory insufficiency	ORPHA:1860
Oromandibular Dystonia	Respiratory distress, Abnormality of the temporomandibular joint, Abnormal mandible morphology, W...	ORPHA:93958
Pfeiffer Syndrome Type 2	Respiratory distress, Aqueductal stenosis, Hydrocephalus, Chiari malformation, Laryngomalacia, Tr...	ORPHA:93259
Otopalatodigital Syndrome Type 2	Encephalocele, Micrognathia, Myelomeningocele, Hypoplastic frontal sinuses, Hydrocephalus, Cerebe...	ORPHA:90652
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid...	ORPHA:143
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Hypothyroidism, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Liposarcoma	Paresthesia, Weight loss	ORPHA:69078
Crouzon Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Keratitis, Hydrocephalus, Conjunctivitis, Dysge...	OMIM:123500
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Mandibular prognathia, Communicating hydrocephalus, Megalencephaly, Large for gestational age, Di...	ORPHA:457359
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Hypointensity of cerebral white matter on MRI, Cachexia, Hypoesthesia, Leukoencephalopathy, Dista...	OMIM:603041
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Hemolytic anemia, Schizencephaly, Cortical dysplasia, Porencephalic cyst, Hyd...	OMIM:175780
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi...	ORPHA:424
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd...	ORPHA:91350
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Short stature, Cryptorchidism, Hydrocephalus, Hypoplasia of the zyg...	ORPHA:1340
Achondroplasia	Respiratory distress, Rhizomelia, Megalencephaly, Hydrocephalus, Upper airway obstruction, Recurr...	OMIM:100800
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Short stature, Bilateral cryptorchidism, Hydrocephalus, Hypogonadism, Anemia	ORPHA:3042
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Postnatal growth retardation, Hydr...	OMIM:605627
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Severe short stature, Micrognathia, Hydrocephalus, Malar flattening, Neonatal shor...	OMIM:224400
Medulloblastoma	Ataxia, Cerebellar calcifications, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Cereb...	ORPHA:616
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Failure to thrive, Severe short stature, Abnormal dental enamel morphology,...	ORPHA:2556
Chronic Graft Versus Host Disease	Pancytopenia, Fasciitis, Dyspnea, Wheezing, Pneumothorax, Urinary bladder inflammation, Bronchiec...	ORPHA:99921
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, P...	ORPHA:60025
Ventriculomegaly With Defects Of The Radius And Kidney	Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly	OMIM:602200
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia, Micrognathia	ORPHA:2774
Shprintzen-Goldberg Craniosynostosis Syndrome	Microcephaly, Hypoplasia of the maxilla, Micrognathia, Cryptorchidism, Hydrocephalus, Dental malo...	OMIM:182212
Mohr Syndrome	Short stature, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Porencephalic cyst, Agenes...	OMIM:252100
Cap Polyposis	Atrophic gastritis, Weight loss	ORPHA:160148
Pfeiffer Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Hydrocephalus, Chiari malformation	OMIM:101600
Isolated Permanent Neonatal Diabetes Mellitus	Ataxia, Neonatal insulin-dependent diabetes mellitus, Weight loss, Pancreatic hypoplasia, Intraut...	ORPHA:99885
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Hepatomegaly, Neonatal respiratory distress, Cerebellar vermis hypoplasia,...	OMIM:312870
Fontaine Progeroid Syndrome	Mandibular prognathia, Failure to thrive, Cerebellar vermis hypoplasia, Small for gestational age...	OMIM:612289
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Short stature, Micrognathia, Hydrocephalus, Dentinogenesis imperfecta	OMIM:112240
Proteus Syndrome	Thymus hyperplasia, Abnormal dental enamel morphology, Cachexia, Pulmonary embolism, Neoplasm of ...	ORPHA:744
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly	OMIM:614195
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypoplasia of the maxilla, Hydrocephalus, Cryptorchidism	OMIM:601499
Oculopharyngodistal Myopathy 1	Respiratory distress, Ataxia, Hypercapnia, Reduced forced vital capacity, Respiratory insufficien...	OMIM:164310
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Severe short stature, Absent septum pellucidum, Abnormal dental enamel mor...	ORPHA:2658
Muenke Syndrome	Malar flattening, Hydrocephalus	ORPHA:53271
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Respiratory failure, Ataxia, Short stature	ORPHA:1861
Osteosarcoma	Weight loss	ORPHA:668
X-Linked Intellectual Disability, Cabezas Type	Short stature, Cachexia, Microcephaly, Obesity, Hypogonadism, Decreased testicular size	ORPHA:85293
Goodpasture Syndrome	Glomerulonephritis, Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory def...	OMIM:233450
Mend Syndrome	Short stature, Micrognathia, Cryptorchidism, Hydrocephalus, Hypoplasia of the corpus callosum, Fa...	ORPHA:401973
White-Kernohan Syndrome	Dysplastic corpus callosum, Obesity, Recurrent otitis media, Retrognathia, Hypothyroidism	OMIM:619426
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Aqueductal stenosis, Hepatic fibrosis, Intrahepatic bile duct dila...	OMIM:619534
Chromosome 17P13.1 Deletion Syndrome	Diffuse cerebral atrophy, Spina bifida, Microcephaly, Hydrocephalus, Hydrocele testis	OMIM:613776
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight l...	ORPHA:276621
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
Fraser Syndrome 1	Subglottic stenosis, Laryngeal stenosis, Encephalocele, Abnormal cortical gyration, Microcephaly,...	OMIM:219000
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Familial Gestational Hyperthyroidism	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:99819
Xfe Progeroid Syndrome	Severe short stature, Cachexia, Microcephaly, Enamel hypoplasia, Failure to thrive, Ventriculomegaly	OMIM:610965
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho...	ORPHA:249
Raine Syndrome	Mandibular prognathia, Natal tooth, Cerebral calcification, Short stature, Micrognathia, Microcep...	OMIM:259775
Tuberous Sclerosis Complex	Respiratory distress, Pancreatic endocrine tumor, Cortical dysplasia, Pituitary adenoma, Parathyr...	ORPHA:805
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus, Keratoconjunctivitis sicca, Intrauterine growth ret...	OMIM:616914
Capillary Malformation-Arteriovenous Malformation	Chylothorax, Hydrocephalus, Abnormality of the lymphatic system, Epistaxis	ORPHA:137667
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Respiratory failure, Hydrocephalus, Respiratory insufficiency	OMIM:276950
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplasia of the corpus callosum, Agenesis of co...	ORPHA:457284
Fryns-Smeets-Thiry Syndrome	Microcephaly, Short stature, Cachexia, Micrognathia	ORPHA:2058
Mycophenolate Mofetil Embryopathy	Tracheomalacia, Hydrocephalus, Agenesis of corpus callosum, Micrognathia	ORPHA:268249
Autoimmune Pulmonary Alveolar Proteinosis	Abnormality of the upper respiratory tract, Crackles, Dyspnea, Weight loss, Hypoxemia, Restrictiv...	ORPHA:747
Yunis-Varon Syndrome	Short stature, Micrognathia, Abnormality of dental structure, Cryptorchidism, Hydrocephalus, Post...	ORPHA:3472
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Failure to thrive, Osteomyelitis, Ataxia, Microcephaly, Overweight, Jaundice, Hydrocephalus, Obes...	OMIM:619475
Peters-Plus Syndrome	Rhizomelia, Bilobate gallbladder, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Cryptorc...	OMIM:261540
Tropical Endomyocardial Fibrosis	Hepatomegaly, Orthopnea, Eosinophilia, Cachexia, Splenomegaly, Dyspnea, Pulmonary venous hyperten...	ORPHA:75565
Acrofacial Dysostosis 1, Nager Type	Subglottic stenosis, Short stature, Laryngeal hypoplasia, Micrognathia, Trismus, Microcephaly, Aq...	OMIM:154400
Rheumatoid Arthritis	Rheumatoid arthritis, Weight loss	OMIM:180300
Witteveen-Kolk Syndrome	Microretrognathia, Small for gestational age, Eczema, Decreased response to growth hormone stimul...	OMIM:613406
Arachnoiditis	Hydrocephalus, Paresthesia	ORPHA:137817
Velocardiofacial Syndrome	Hypoparathyroidism, Short stature, Impaired T cell function, Microcephaly, Cryptorchidism, Retrog...	OMIM:192430
Linear Skin Defects With Multiple Congenital Anomalies 1	Short stature, Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of c...	OMIM:309801
Parkinson Disease 4, Autosomal Dominant	Lewy bodies, Weight loss	OMIM:605543
Hajdu-Cheney Syndrome	Short stature, Micrognathia, Absent frontal sinuses, Cryptorchidism, Hydrocephalus, Dental malocc...	OMIM:102500
Kabuki Syndrome	Short stature, Microcephaly, Precocious puberty, Cryptorchidism, Hydrocephalus, Obesity, Failure ...	ORPHA:2322
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus, Respiratory insufficiency, Micrognathia	OMIM:620351
Hec Syndrome	Communicating hydrocephalus, Abnormality of the pharynx, Vaginal hydrocele, Respiratory insuffici...	ORPHA:2119
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Ventriculomegaly, Micrognathia	OMIM:617866
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypo...	OMIM:619841
Tetrasomy 9P	Absent gallbladder, Myositis, Pericarditis, Abnormal dental enamel morphology, Micrognathia, Cryp...	ORPHA:3310
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the corpus callosum, Occi...	OMIM:616546
Schwartz-Jampel Syndrome	Apnea, Short stature, Cachexia, Micrognathia, Microcephaly, Trismus, Supernumerary tooth, Dental ...	ORPHA:800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Ventriculomegaly, Micrognathia, Microcephaly, Hydrocephalus, Aplasia/Hypopl...	OMIM:253280
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Microretrognathia, Rhizomelia, Short stature, Micrognathia, Hydrocephalus	OMIM:245600
Laurin-Sandrow Syndrome	Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2378
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Micrognathia, Carious teeth, Postnatal growth reta...	ORPHA:536467
Thakker-Donnai Syndrome	Communicating hydrocephalus, Intrauterine growth retardation, Agenesis of corpus callosum	ORPHA:1780
Baller-Gerold Syndrome	Severe short stature, Short stature, Anomalous splenoportal venous system, Micrognathia, Hydrocep...	OMIM:218600
Sturge-Weber Syndrome	Cerebral calcification, Pulmonary embolism, Hydrocephalus, Chiari malformation, Cerebral cortical...	ORPHA:3205
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Micrognathia, Microcephaly, Cryptorchidism, Hydrocephalus, Frontal encephalocel...	OMIM:268300
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight l...	ORPHA:29072
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Vacterl With Hydrocephalus	Spina bifida, Micrognathia, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Intrauterine grow...	ORPHA:3412
Knobloch Syndrome	Lymphangioma, Occipital encephalocele, Hydrocephalus	ORPHA:1571
Mend Syndrome	Microretrognathia, Short stature, Micrognathia, Cryptorchidism, Hydrocephalus, Failure to thrive,...	OMIM:300960
Cousin Syndrome	Rhizomelia, Micrognathia, Hydrocephalus, Disproportionate short stature, Hydranencephaly	OMIM:260660
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Cole-Carpenter Syndrome	Delayed eruption of teeth, Communicating hydrocephalus, Short stature, Abnormal dental enamel mor...	ORPHA:2050
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Keratitis, Dyspnea, Weight loss, Aspiration pneumonia, Cough, Failure to thrive	ORPHA:1018
Iniencephaly	Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys...	ORPHA:63259
Juvenile Dermatomyositis	Myositis, Pericarditis, Skin rash, Dyspnea, Weight loss, Restrictive ventilatory defect, Arthriti...	ORPHA:93672
Fetal Akinesia Deformation Sequence 1	Small for gestational age, Absent septum pellucidum, Micrognathia, Cryptorchidism, Hydrocephalus,...	OMIM:208150
Focal Dermal Hypoplasia	Delayed eruption of teeth, Short stature, Supernumerary nipple, Microcephaly, Cryptorchidism, Hyd...	OMIM:305600
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus, Laryngeal atresia	OMIM:314390
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Ovarian fibroma, Spina bifida, Hydrocephalus, Ovarian carcinoma, Calcifica...	OMIM:109400
Basal Cell Nevus Syndrome 2	Hydrocephalus, Calcification of falx cerebri	OMIM:620343
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Micrognathia, Carious t...	OMIM:114290
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Chromosome 1P36 Deletion Syndrome, Distal	Microcephaly, Cryptorchidism, Polymicrogyria, Hypothyroidism, Hydrocephalus, Obesity, Leukoenceph...	OMIM:607872
Reactive Arthritis	Pericarditis, Osteomyelitis, Pustule, Respiratory insufficiency, Enthesitis, Weight loss, Arthrit...	ORPHA:29207
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Seckel Syndrome	Short stature, Abnormal dental enamel morphology, Cachexia, Microcephaly, Micrognathia, Intrauter...	ORPHA:808
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Malar flattening, Hydrocephalus, Upper airway obstruction	OMIM:207410
Hereditary Late-Onset Parkinson Disease	Lewy bodies, Cerebral cortical atrophy, Weight loss	ORPHA:411602
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature adrenarche, Acne, Hypogonadotropic hypogonadism, ...	ORPHA:90794
Congenital Fiber-Type Disproportion Myopathy	Hypercapnia, Micrognathia, Respiratory insufficiency due to muscle weakness, Weight loss, Hypoxem...	ORPHA:2020
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Short stature, Micrognathia	ORPHA:1064
Microphthalmia With Limb Anomalies	Short stature, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla, Cryptorchid...	ORPHA:1106
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Abnormality of T cell physiology, Diabetes mellitus, Psoriasiform dermatitis,...	ORPHA:2237
Acquired Central Diabetes Insipidus	Diabetes insipidus, Weight loss	ORPHA:95626
Peters Plus Syndrome	Short stature, Rhizomelia, Microcephaly, Micrognathia, Cryptorchidism, Hydrocephalus, Postnatal g...	ORPHA:709
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Short stature, Cachexia, Micrognathia, Thyroid carcinoma, Hashimo...	ORPHA:109
Thyrotoxic Periodic Paralysis	Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi...	ORPHA:79102
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Progeroid Short Stature With Pigmented Nevi	Diabetes mellitus, Small for gestational age, Allergic rhinitis, Impaired T cell function, Short ...	OMIM:176690
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Micrognathia	OMIM:243440
Neurofibromatosis, Type I	Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Pheochromocytoma, Parathyroid ad...	OMIM:162200
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Coffin-Siris Syndrome 12	Short stature, Microcephaly, Micrognathia, Cryptorchidism, Hypothyroidism, Noncommunicating hydro...	OMIM:619325
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Absent nipple	OMIM:104350
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormality of the liv...	ORPHA:2369
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Microcephaly, Micrognathia, Cryptorchidism, Hydrocephalus	ORPHA:261337
17Q11 Microdeletion Syndrome	Short stature, Precocious puberty, Glomus jugular tumor, Abnormality of the sphenoid sinus, Eleva...	ORPHA:97685
Full Nf2-Related Schwannomatosis	Somatic sensory dysfunction, Myelopathy, Abnormal cerebellum morphology, Hydrocephalus, Hyperesth...	ORPHA:637
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Nelson Syndrome	Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre...	ORPHA:199244
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Rectal abscess	OMIM:600145
Alström Syndrome	Respiratory distress, Abnormality of dental color, Decreased response to growth hormone stimulati...	ORPHA:64
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Female hypogonadism, Decreased serum leptin, Persistence of primary te...	ORPHA:740
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Chiari malformation, Occipi...	ORPHA:268810
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Abnormality of the pharynx, Cachexia	ORPHA:3217
Marfan Syndrome	Arthralgia/arthritis, Spontaneous pneumothorax, Cachexia, Micrognathia, Abnormal zygomatic bone m...	ORPHA:558
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Abnormal paranasal sinus morphology, Abnormal facial skeleton ...	ORPHA:141099
Carney-Stratakis Syndrome	Paraganglioma, Weight loss	ORPHA:97286
Hypoplasminogenemia	Cervicitis, Hydrocephalus, Periodontitis, Abnormality of the ovary, Dandy-Walker malformation	ORPHA:722
Stickler Syndrome	Slender build, Abnormal dental enamel morphology, Cachexia, Micrognathia, Hypoplasia of the maxil...	ORPHA:828
Loeys-Dietz Syndrome 1	Eosinophilic infiltration of the esophagus, Micrognathia, Hydrocephalus, Chiari malformation, Mal...	OMIM:609192
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Pleural effusion, Apnea, Hydrocephalus	OMIM:261740
Fraser Syndrome 3	Hydrocephalus, Micrognathia	OMIM:617667
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Otopalatodigital Syndrome, Type Ii	Short stature, Spina bifida, Micrognathia, Postnatal growth retardation, Cryptorchidism, Hydrocep...	OMIM:304120
Norrie Disease	Diabetes mellitus, Cachexia, Microcephaly, Cryptorchidism, Delayed puberty, Aplasia/Hypoplasia of...	ORPHA:649
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of the thyroid gland, Short stature, Cachexia	ORPHA:1969
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Loeys-Dietz Syndrome 2	Spontaneous pneumothorax, Eosinophilic infiltration of the esophagus, Micrognathia, Hydrocephalus...	OMIM:610168
Oeis Complex	Cryptorchidism, Myelomeningocele, Chiari malformation, Hydrocephalus	OMIM:258040
Townes-Brocks Syndrome 1	Small for gestational age, Microcephaly, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Hypoth...	OMIM:107480
Split Cord Malformation	Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Chiari...	ORPHA:573278
Craniofacial Microsomia 1	Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Chiari malformat...	OMIM:164210
Primary Fanconi Renotubular Syndrome	Growth delay, Weight loss	ORPHA:3337
Exstrophy-Epispadias Complex	Cryptorchidism, Hydrocephalus, Spina bifida, Microcephaly	ORPHA:322

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pfdn1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pfdn1.

No publications found that use IMPC mice or data for Pfdn1.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Pfdn1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Pfdn1^em1(IMPC)J	Exon Deletion	Mice
Pfdn1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pfdn1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pfdn1 MGI:1914449

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Morphology Embryo E18.5

Eye Morphology

Electroretinography 3

Combined SHIRPA and Dysmorphology

Gross Morphology Placenta E18.5

Auditory Brain Stem Response

Human diseases caused by Pfdn1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data