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Gene: Arid4a MGI:2444354

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Gene Summary

Name:
AT-rich interaction domain 4A
Synonyms:
A630067N03Rik,  Rbbp1

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Arid4atm1a(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Arid4atm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Arid4atm1a(EUCOMM)Wtsi
forearm, WT, Male, WTSI
Arid4atm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Arid4atm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Arid4atm1a(EUCOMM)Wtsi
head, WT, Male, WTSI

View all 176 images

Arid4atm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Arid4atm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Arid4atm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Arid4a mutations

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

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

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

The table below shows human diseases predicted to be associated to Arid4a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Coxa Vara
Coxa vara OMIM:122750
Upington Disease
Flat capital femoral epiphysis, Premature epimetaphyseal fusion, Broad femoral neck, Arthralgia o... ORPHA:3408
Blount Disease, Infantile
Genu varum, Abnormality of the proximal tibial epiphysis OMIM:188700
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... OMIM:619598
Upington Disease
Flattened femoral head, Broad femoral neck, Arthralgia of the hip OMIM:191520
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling OMIM:600121
Essential Thrombocythemia
Myelofibrosis, Prolonged bleeding time, Transient ischemic attack, Abnormality of thrombocytes, M... ORPHA:3318
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ... ORPHA:86843
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Abnormal number of granulocyte precursors, Refractory anemia with ringed sider... ORPHA:75564
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology OMIM:259270
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt... OMIM:614470
Immunodeficiency 21
Megakaryocyte nucleus hypolobulation, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervica... OMIM:614172
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... OMIM:301078
Diamond-Blackfan Anemia 18
Granulocytic hypoplasia, Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... OMIM:231095
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... OMIM:133180
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Gra... OMIM:226990
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Myelodysplasia, Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neut... ORPHA:231401
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Abnormal bleeding, Macrocytic anemia, Bone marrow hypercellularity, Megak... ORPHA:86841
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Myelofibrosis, Impaired thrombin-induced platelet agg... OMIM:139090
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... ORPHA:2779
Thrombocytopenia 2
Increased megakaryocyte colony forming unit count, Leukocytosis, Bruising susceptibility, Thrombo... OMIM:188000
Dysplasia Of Head Of Femur, Meyer Type
Waddling gait, Multicentric femoral head ossification, Antalgic gait, Leukocytosis, Enlarged tons... ORPHA:168621
Primary Myelofibrosis
Bone marrow hypercellularity, Extramedullary hematopoiesis, Ecchymosis, Abnormal bleeding, Hepato... ORPHA:824
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Epistaxis, Abnormality ... OMIM:612840
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Fanconi Anemia, Complementation Group G
Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Coxopodopatellar Syndrome
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... ORPHA:1509
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Gastrointestinal hemorrhage, Prolonged bleeding time, Myelofibrosis, Increased... OMIM:187900
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Acetabular dysplasia OMIM:613618
Refractory Anemia
Normocytic anemia, Abnormal bleeding, Macrocytic anemia, Abnormal cardiac ventricular function, S... ORPHA:98826
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Trimethylaminuria
Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia OMIM:602079
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... OMIM:147891
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Myelofibrosis, Angina pectoris, Epistaxis, Portal hype... ORPHA:729
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Chronic... OMIM:618986
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Asthma, Lymphoma, Leukopenia, Monocyto... OMIM:616871
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Thrombocytopenia 6
Abnormal bleeding, Spontaneous, recurrent epistaxis, Bone marrow hypercellularity, Myelofibrosis,... OMIM:616937
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Hip dysplasi... OMIM:142669
Ataxia-Pancytopenia Syndrome
Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni... OMIM:159550
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C... OMIM:609324
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U... ORPHA:2585
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Adult Idiopathic Neutropenia
Granulocytic hypoplasia, Bone marrow hypercellularity, Abnormal neutrophil count, Abnormal bone m... ORPHA:2688
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Bone marrow arrest at the promyelocytic stage, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Myeloproliferative disorder, Restrictive cardiomyopathy OMIM:607685
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Myelodysplasia, Anemia, Increased ... OMIM:619041
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Abnormal me... ORPHA:67044
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Osteopenia, Pancytopenia, Aplastic anemia, Myelodysplasia, Crackles, Dyspnea, Mediastinal lymphad... OMIM:614742
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Bone marrow maturation arrest, Neutropenia OMIM:617014
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia, Congenital alopecia totalis ORPHA:169095
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Myelofibrosis
Myelofibrosis, Splenomegaly, Myeloproliferative disorder, Purpura OMIM:254450
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Immune Thrombocytopenia
Abnormal bleeding, Thrombocytopenia OMIM:188030
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism... ORPHA:3260
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Lymphoma, Monoclonal immuno... OMIM:153600
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acu... ORPHA:3226
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersple... ORPHA:98850
Whim Syndrome 2
Myelokathexis, Chronic neutropenia OMIM:619407
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Castleman Disease
Myelofibrosis, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Dyspnea, Jaun... ORPHA:160
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy... OMIM:607078
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Granulocytic hyperplasia, Myelodysplasia OMIM:162830
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Bone marrow maturation arrest, Neutropenia OMIM:616022
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Wt Limb-Blood Syndrome
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia OMIM:194350
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Asthma, Recurrent pneum... OMIM:617585
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Bone marrow hypercellularity, Granulocytic hyperplasia, Myeloid leukemia, Hepa... ORPHA:98849
Folate Malabsorption, Hereditary
Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia OMIM:229050
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Ataxia, Anemia ORPHA:2802
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Splenomegaly, Anemia, Choreoathetosis, Cardiomyopathy, Neutro... ORPHA:79312
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Neutropenia ORPHA:90023
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Tibial Hemimelia
Absent tibia OMIM:275220
Primary Familial Polycythemia
Abnormal bleeding, Epistaxis, Abnormal hemoglobin, Dyspnea, Cough, Polycythemia, Exertional dyspnea ORPHA:90042
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Immunodeficiency 24
Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated i... OMIM:615897
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis ORPHA:157991
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Glioma susceptibility 9
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia OMIM:616568
Hemochromatosis, Type 3
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Amenorrhea, Cardiomyopathy, Impoten... OMIM:604250
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Myelodysplasia, Pneumonia, Acu... ORPHA:486
Acute Myelomonocytic Leukemia
Abnormal bleeding, Eosinophilia, Dyspnea, Leukocytosis, Anemia, Thrombocytopenia ORPHA:517
Slc35A1-Cdg
Respiratory distress, Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Pneumo... ORPHA:238459
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal bleeding, Single lineage myelodysplasia, Anemia of inadequate pr... ORPHA:86839
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae OMIM:614038
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Rhabdoid Tumor
Renal neoplasm, Respiratory insufficiency, Lymphadenopathy, Neoplasm of the central nervous syste... ORPHA:69077
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Myelodysplasia, Abnormality of the menstrual cycle, Abnormality of ... ORPHA:721
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hepatomegaly, Anemia, Choreoathetosis, Neutropenia, Lethargy, Pancreatitis,... ORPHA:289916
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet functio... ORPHA:231393
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Acute myeloid leukemia, Myelofibrosis, Chronic myelomonocytic leukemia OMIM:616604
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Dyspnea, Sea-blue histiocyt... OMIM:607616
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Malignant eosinophil proliferation, Myeloproliferative disorder OMIM:131440
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hypoplasia of the odontoid process, Coxa vara, Short femoral neck, Corner fracture of metaphysis,... OMIM:184255
Glutathione Synthetase Deficiency
Hemolytic anemia, Ataxia, Neutropenia OMIM:266130
Amed Syndrome, Digenic
Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Thromboc... OMIM:619151
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure ORPHA:46532
Immunodeficiency 104
Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Thrombocytopenia 5
Petechiae, Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, ... OMIM:616216
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... OMIM:226900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Ataxia, Gait disturbance, Hepatomegaly ORPHA:2274
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatospl... OMIM:259710
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Osteolysis, Multiple enchondromatosis, Neoplasm, Lymphangi... ORPHA:296
Bone Marrow Failure Syndrome 6
Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co... OMIM:618849
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, ... OMIM:150550
Acute Monoblastic/Monocytic Leukemia
Bone marrow hypercellularity, Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, C... ORPHA:514
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphoma, Vasculi... OMIM:308240
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphoc... OMIM:619164
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage, Thrombocytopenia ORPHA:1980
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Refractory anemia with ringed sideroblasts, Redu... OMIM:619523
Specific Granule Deficiency 2
Osteopenia, Absent neutrophil specific granules, Bone marrow maturation arrest, Myelodysplasia, R... OMIM:617475
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Acute Promyelocytic Leukemia
Abnormal bleeding, Bone marrow hypercellularity, Pancytopenia, Purpura, Petechiae, Epistaxis, Met... ORPHA:520
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Premature graying of hair, Bone marrow hypocellularity, Leukemia, ... OMIM:614743
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Multiple linea... ORPHA:98827
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia OMIM:252270
Propionic Acidemia
Hepatomegaly, Pancytopenia, Apnea, Cerebellar hemorrhage, Tachypnea, Osteoporosis, Anemia, Cardio... OMIM:606054
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Genu varum, Patellar hypoplasia, Short femoral neck, Broad femoral neck, Ir... OMIM:609325
Transcobalamin Deficiency
Pancytopenia, Megaloblastic bone marrow, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... OMIM:250460
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia... ORPHA:822
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Hypothyroid... OMIM:301082
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Epistaxis, Macrothrombocytopenia, Anemia, Spontaneous hematomas, Menorrhagia, ... OMIM:616176
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Respiratory insufficiency, Anemia, Hypertensi... OMIM:617021
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Abnormal granulocytopoietic cell morphology, Elliptocytosis, Bon... OMIM:300835
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... OMIM:300367
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B-cell lymphoma, Absenc... OMIM:619924
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Babesiosis
Hemolytic anemia, Hepatomegaly, Myocardial infarction, Splenomegaly, Jaundice, Congestive heart f... ORPHA:108
Whim Syndrome 1
Bone marrow hypercellularity, Myelokathexis, Bronchiectasis, Neutropenia, Verrucae OMIM:193670
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Abn... ORPHA:100024
Poems Syndrome
Sclerosis of hand bone, Hypothyroidism, Polycythemia, Sclerosis of foot bone, Leukonychia, Lympha... ORPHA:2905
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... OMIM:613011
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Leukocyte inclusion bodies, Prolonged bleeding time, Megakaryocyte dysplasia, ... OMIM:155100
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Hypertension, Thrombocytopenia OMIM:189800
Malaria
Anemia, Respiratory distress, Thrombocytopenia, Gait imbalance ORPHA:673
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Abn... ORPHA:398124
Woronets Trait
Red blood cell keratocytosis OMIM:194320
N Syndrome
Cryptorchidism, Leukemia, Neoplasm OMIM:310465
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Splenomegaly, Loss of ambulation, Thrombocytopenia OMIM:615010
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Shock, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypne... ORPHA:36238
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Felty Syndrome
Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Lymphoma, Recurrent pneumonia, Osteolysis, L... ORPHA:47612
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma ORPHA:66661
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Ataxia, Respiratory insufficiency, Anemia, Leukopenia, Choreoath... ORPHA:27
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... OMIM:615513
Acute Erythroid Leukemia
Bone marrow hypercellularity, Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia w... ORPHA:318
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Jaundice, Lymphadenopathy, Pr... ORPHA:79477
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Myelodysplasia, Epista... OMIM:601399
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Nail dystrophy, T lymphocytopenia, Pneumonia, Abnormally low T cell receptor excision circle level OMIM:618806
Amegakaryocytic Thrombocytopenia, Congenital, 1
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Aregenerative Anemia
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Dyspnea, Abnormal bone marrow cell morphol... ORPHA:101096
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Wheezing, Abnormal bone mar... ORPHA:79456
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Hypoxemia, Intracranial hemorrhage, Increased hema... ORPHA:284227
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal pelvic g... ORPHA:1802
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Bradykinesia, Steppage gait, Decreased liver functio... OMIM:613280
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Coxa valga OMIM:271620
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma OMIM:619437
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Splenom... OMIM:259720
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patc... OMIM:615387
Immunodeficiency 36 With Lymphoproliferation
B-cell lymphoma, Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphatic leukemia, Incr... OMIM:616005
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnorm... ORPHA:507
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Portal hypertension, Myelodysplasia, Cryptorchidism, Anemia, Premature graying of hai... OMIM:620365
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic a... ORPHA:35858
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Exertional dyspnea OMIM:250800
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemias, Lymphoma OMIM:247640
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Neoplasm, ... ORPHA:906
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induc... OMIM:153670
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells... ORPHA:169154
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Alopecia, Decreased helper T cell proportion, Nail dystrophy OMIM:601705
Primary Erythromelalgia
Leukemia, Vasculitis, Abnormality of thrombocytes ORPHA:90026
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Respiratory di... OMIM:260400
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... OMIM:300853
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Systemic Lupus Erythematosus 17
Alopecia, Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral r... OMIM:301080
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Petechiae, Thrombocytopenia, Hypertrichosis, Abnormal lymp... ORPHA:2330
Forsythe-Wakeling Syndrome
Osteoporosis, Thrombocytopenia OMIM:613606
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Purpura, Gastrointestinal hemorrhage, Ataxia, Epistaxis, Abnorma... ORPHA:33226
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Telangiectasia of the skin, Cryptorchidism, Leukocytosis, Lymphoma, L... ORPHA:99812
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Tachypnea, Normochromic anemia, Lethargy, Neutropenia, Pulmonary arterial hyperte... OMIM:614857
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough ORPHA:330012
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Hypopi... OMIM:214500
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat... OMIM:618278
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Increased bone mineral density, Petechiae, Splenomegaly, Thrombocy... OMIM:611490
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphoma, Vasculitis, L... ORPHA:37748
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Hypothyroidism, Anisopoikilocytosis, Reticulocytopenia, Hepatosple... ORPHA:300298
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Leukopenia, Cardiomyopathy, Neutropeni... OMIM:251000
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Epi... OMIM:314050
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrh... ORPHA:98870
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Fetal Parvovirus Syndrome
Thrombocytopenia, Hypertrophic cardiomyopathy, Ascites, Anemia ORPHA:295
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, B lymphocytopenia, Recurrent sinusi... OMIM:619281
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hyp... ORPHA:88
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Perineal hemangioma, Congestive heart failure, Midfrontal capillary h... ORPHA:141179
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... ORPHA:83469
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... OMIM:263400
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Tufted Angioma
Megakaryocytopenia, Purpura, Petechiae, Thrombocytopenia, Hypertrichosis, Hyperhidrosis, Neoplasm... ORPHA:1063
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Recurrent ... OMIM:613101
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Jaundice, Sphero... ORPHA:71275
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Megakaryocytope... OMIM:619644
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Immunodeficiency 95
Respiratory distress, Respiratory failure, Lymphopenia, Recurrent viral pneumonia OMIM:619773
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Neutropenia, Chronic sinusitis, Abnormal T cell morphology OMIM:613502
Macrophage Activation Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... ORPHA:158061
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficienc... OMIM:610333
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... OMIM:112450
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Immunodeficiency 16
Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia OMIM:615593
Metaphyseal Chondrodysplasia, Schmid Type
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... OMIM:156500
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Avian Influenza
Elevated hepatic transaminase, Respiratory distress, Pneumonia, Productive cough, Nonproductive c... ORPHA:454836
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Congenital Enterovirus Infection
Respiratory distress, Abnormal bleeding, Abnormal macrophage morphology, Fetal ascites, Myocardit... ORPHA:292
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Absent... OMIM:620282
Femoral-Facial Syndrome
Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor... ORPHA:1988
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Ataxia, Thrombocytopenia, Macrothrombocytopenia, Neutropenia, Decreased pla... OMIM:603585
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Aplastic anemia, Ataxia, Myelodysplasia, Dyspnea, Osteoporosis, Hepatic necrosis, Anemi... OMIM:127550
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... ORPHA:331
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Ataxia, Neutropenia OMIM:616949
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Eosinophilia, ... OMIM:603909
Epiphyseal Dysplasia, Baumann Type
Carpal bone aplasia, Pes planus, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long finge... OMIM:610797
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Cr... ORPHA:210136
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Impaired rist... OMIM:231200
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Perineal hemangioma, Congestive heart failure, Midfrontal capillary h... ORPHA:141184
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Bronchiectasis, Decrea... OMIM:619705
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Erlenmeyer flask deformity of the femurs, Cortical sclerosis of the ilia... OMIM:611497
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias OMIM:619096
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased respo... ORPHA:811
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Thrombocytopenia, Purpura ORPHA:529
Chromosome 5Q Deletion Syndrome
Megakaryocyte nucleus hypolobulation, Myelodysplasia, Anemia of inadequate production, Refractory... OMIM:153550
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Splenomegaly, Inability to walk, Recurrent pneumonia, Congest... OMIM:617303
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Agammaglobulinemia 10, Autosomal Dominant
Recurrent sinusitis, Transient neutropenia, Absent circulating B cells OMIM:619707
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Congenital Atransferrinemia
Abnormality of the pancreas, Hypothyroidism, Anemia ORPHA:1195
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Lymphadenopathy, ... ORPHA:540
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell ... ORPHA:158048
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, M... OMIM:275350
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Lethargy, Thrombocytopenia OMIM:251110
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... OMIM:124900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-p... OMIM:304790
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Petechiae, Epistaxis, Cerebral hemorrhage, Bruising su... ORPHA:99828
Tularemia
Respiratory distress, Brain abscess, Tachycardia, Pneumonia, Abnormal nasopharyngeal adenoid morp... ORPHA:3392
Griscelli Syndrome
Hepatomegaly, Abnormal eyebrow morphology, Ataxia, Abnormality of neutrophils, Abnormal eyelash m... ORPHA:381
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Chronic hepatitis due to cryptosporidium in... ORPHA:572
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Thymoma
Aplastic anemia, Pure red cell aplasia, Neoplasm of head and neck, Cough, Dyspnea, Imbalanced hem... ORPHA:99867
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Brittle hair, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic ... OMIM:616084
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:618116
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Ataxia-Telangiectasia
Conjunctival telangiectasia, Sinusitis, Ataxia, Female hypogonadism, Abnormal hair morphology, In... OMIM:208900
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Omenn Syndrome
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thromboc... OMIM:603554
Abcd Syndrome
White eyelashes, Polycythemia, White eyebrow, Albinism OMIM:600501
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Abnormality of the tonsils, Recurrent... ORPHA:47
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Hepatoportal Sclerosis
Elevated hepatic transaminase, Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertensio... ORPHA:64743
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Sinusitis, Absence of lymph node germinal center, Recurrent pneumonia, T... ORPHA:277
Sting-Associated Vasculopathy, Infantile-Onset
Follicular hyperplasia, Raynaud phenomenon, Tachypnea, Paratracheal lymphadenopathy, Telangiectas... OMIM:615934
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Recurrent pneumonia, Bronchiectasis, H... OMIM:614868
Evans Syndrome
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Jaundice, Neutropen... ORPHA:1959
Lig4 Syndrome
Pancytopenia, Myelodysplasia, Hypothyroidism, Asthma, Cryptorchidism, Low anterior hairline, Tela... OMIM:606593
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Asc... ORPHA:858
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natural killer cell coun... OMIM:616050
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Sitosterolemia 1
Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytos... OMIM:210250
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anem... OMIM:187800
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Lethargy, Thrombocy... OMIM:243500
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Meningioma OMIM:602501
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Abnormality of the knee, Broad radial metaphysis, Protrusio acetabuli, Broad fem... ORPHA:99642
Livedoid Vasculopathy
Pancytopenia, Telangiectasia of the skin, Leukocytosis, Graves disease, Hypertension, Ischemic st... ORPHA:542643
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia... OMIM:227650
Immunodeficiency, Common Variable, 8, With Autoimmunity
Generalized lymphadenopathy, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disor... OMIM:614700
Holocarboxylase Synthetase Deficiency
Respiratory distress, Alopecia, Ataxia, Tachypnea, Lethargy, Thrombocytopenia ORPHA:79242
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Osteoporosis, Megaloblastic bone marrow, Hypertension, Abnormali... ORPHA:2169
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Letterer-Siwe Disease
Dyspnea, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia OMIM:246400
Schimke Immunoosseous Dysplasia
Waddling gait, Osteopenia, Pancytopenia, Transient ischemic attack, Bilateral cryptorchidism, Dys... OMIM:242900
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Osteoporosis, Premature graying of hair, L... OMIM:613989
Transaldolase Deficiency
Abnormal respiratory system physiology, Hepatosplenomegaly, Anemia, Telangiectasia, Cirrhosis, Th... ORPHA:101028
Mantle Cell Lymphoma
Splenomegaly, Abnormal bone marrow cell morphology, B-cell lymphoma, Lymphadenopathy ORPHA:52416
Alpha-Heavy Chain Disease
Hepatomegaly, Alopecia, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Nasu-Hakola Disease
Reduced bone mineral density, Bone cyst, Acute leukemia ORPHA:2770
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Neutrope... OMIM:600901
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... ORPHA:93333
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614727
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Lymphoma, Bronchiectasis, Decreased proportion of class-switched memory B... OMIM:619126
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Sepsis In Premature Infants
Abnormal bleeding, Hepatomegaly, Tachycardia, Petechiae, Abnormal mucociliary clearance, Splenome... ORPHA:90051
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... OMIM:259730
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:616913
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Pneumonia OMIM:247800
Von Willebrand Disease, Type 2
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:613554
Grant Syndrome
Tibial bowing, Down-sloping shoulders, Micrognathia OMIM:138930
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... ORPHA:309854
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Cyclic Neutropenia
Sinusitis, Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical lymphadenopathy, Recurrent... ORPHA:2686
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Thrombocytopenia OMIM:231000
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Tachycardia, Lymphoproliferative disorder, Splenomegaly, Jaundice, C... ORPHA:90033
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Anemia, Hypertension... OMIM:230800
Immunodeficiency 13
Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent... OMIM:615518
Relapsing Fever
Elevated hepatic transaminase, Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Leukocyto... ORPHA:91547
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Pneumonia, Abnormality of neutrophils, Abnormal... ORPHA:229717
Familial Thrombocytosis
Acute myeloid leukemia, Abnormal bleeding, Transient ischemic attack, Myelodysplasia, Splenomegal... ORPHA:71493
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Asthma, Squamous cell carcinoma, T lymphocytopenia, Squamous cell carcinoma of the vul... ORPHA:217390
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Cryptorchidism, Synophrys, Neutropenia, Anemia OMIM:618067
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Secondary am... OMIM:613313
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr... OMIM:607594
Sea-Blue Histiocytosis
Abnormal bleeding, Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue h... ORPHA:158029
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Splenomega... ORPHA:77259
Pseudo-Torch Syndrome 3
Apnea, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Respiratory insufficiency,... OMIM:618886
Fibrodysplasia Ossificans Progressiva
Alopecia, Ectopic ossification in ligament tissue, Respiratory insufficiency, Ectopic ossificatio... ORPHA:337
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hemangiomatosis, Visceral angiomatosis, Anemia, Ascites, Thrombocytopenia ORPHA:2123
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased proportion of CD4-po... OMIM:618204
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Reticulocytosis, Transient ischemic attack, Myocardial infarction, Jaundice... OMIM:274150
Chilblain Lupus
Raynaud phenomenon, Asthma, Chronic myelomonocytic leukemia ORPHA:90280
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... OMIM:601775
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia OMIM:601815
Immunodeficiency 27A
Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphade... OMIM:209950
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... ORPHA:79124
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Ataxia, Tachypnea, Respiratory failure, Gait disturbance, Loss of ambulation, Lethargy, Anemia OMIM:615838
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Glabellar hemangioma, Lymphopenia, Thrombo... OMIM:618624
Platelet Signal Processing Defect
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... OMIM:173590
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Aspergillosis
Sinusitis, Eosinophilia, Pneumonia, Hematological neoplasm, Cough, Dyspnea, Asthma, Chronic pulmo... ORPHA:1163
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Megakaryocyte dysplasia, Myelodysplasia, T... ORPHA:508542
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short iliac bones... OMIM:271530
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD3-p... ORPHA:443811
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent... ORPHA:90064
Necrotizing Enterocolitis
Shock, Apnea, Peritonitis, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Lethargy, Ascites... ORPHA:391673
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:278000
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Epistaxis, Portal hypertension, Nodular r... OMIM:619463
Congenital Erythropoietic Porphyria
Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Facial hypertrichosis, Osteopenia, Anisocyt... ORPHA:79277
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Increased laxity of ankles, Abnormal femor... ORPHA:750
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Atelis Syndrome 1
Bronchiectasis, Anemia, Leukopenia, Hypothyroidism, Thrombocytopenia OMIM:620184
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Squamous cell carcinoma, Neutropenia, Sparse hair, Hypothyroidism, P... ORPHA:221008
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Myocardial infarction, Dyspnea, Microangiopathic hemolytic anemia, Arrhythmia, T... ORPHA:54057
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... ORPHA:56304
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Telangiectasia of the skin, Mye... ORPHA:2909
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis OMIM:612126
Immunodeficiency 62
Autoimmune thrombocytopenia, Bronchiectasis, Increased proportion of transitional B cells, B lymp... OMIM:618459
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Ataxia, Cardiac arrest, L... ORPHA:20
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr... OMIM:617052
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity OMIM:605724
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... OMIM:612541
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Pneumonia, Hepatomegaly OMIM:269840
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Respiratory insufficiency, Restrictive ventilatory defect, Cough,... ORPHA:724
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Lethargy, Thrombocytopenia OMIM:251100
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... ORPHA:2639
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Lymphoma, Recurrent tonsillitis, Bronchiectasis, Lymphaden... ORPHA:397596
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... OMIM:300842
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... ORPHA:905
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Leukocytosis, Increased DLCO, Anemia... ORPHA:90060
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neopl... ORPHA:2584
Porphyria Due To Ala Dehydratase Deficiency
Abnormal erythrocyte enzyme level, Respiratory insufficiency, Myeloproliferative disorder, Diffic... ORPHA:100924
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Fanconi Anemia, Complementation Group C
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Bone mar... OMIM:227645
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia OMIM:246470
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregati... OMIM:619271
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat... ORPHA:79140
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Ataxia, Jaundice, Hepatosplenomegaly ORPHA:33574
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Extramedullary hematopoiesis, Hirsutism, Hepatosplenomegaly, Decreased calvarial ossi... ORPHA:313855
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Central hypothyroid... ORPHA:1667
Hyperlysinemia, Type I
Anemia OMIM:238700
Epiphyseal Dysplasia, Multiple, 1
Pes planus, Short metacarpal, Epiphyseal dysplasia, Avascular necrosis of the capital femoral epi... OMIM:132400
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Abnormal bleeding, Ataxia, Bone marrow maturation arrest, Congestive heart ... OMIM:616271
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Weismann-Netter Syndrome
Fibular bowing, Squared iliac bones, Anterior tibial bowing, Lateral femoral bowing OMIM:112350
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Pneumonia, Recurrent pn... OMIM:300400
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con... OMIM:302060
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Hypohidrosis, Acute leukemia, Hypogonadism, Testicular seminoma ORPHA:281090
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... OMIM:617780
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Myeloid maturation arrest OMIM:619813
Intermediate Osteopetrosis
Cortical sclerosis, Generalized osteosclerosis, Hepatosplenomegaly, Anemia, Abnormality of bone m... ORPHA:210110
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Prolonged bleeding time, Fair hair, Decreased CD4:C... OMIM:608233
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Papilloma, Cough, Ecchymosis, Abnormal bleeding, Hepatosplenomegaly, Abnorma... ORPHA:464329
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... OMIM:619846
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Increased mean corpuscular vo... OMIM:613839
Sengers Syndrome
Osteopenia, Premature ovarian insufficiency, Cardiac arrest, Sudden cardiac death, Respiratory in... OMIM:212350
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Lethargy, Respiratory insufficiency, Anemia ORPHA:28
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Chédiak-Higashi Syndrome
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... ORPHA:167
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia OMIM:614520
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia OMIM:618752
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Waddling gait, Hepatomegaly, Microcytic anemia, Dyspnea, Difficulty walking, Neutropenia, Hypothy... OMIM:251900
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Splenomegaly, Reduced bone mineral density, Leukopenia, Lymphopenia OMIM:620210
Nephronophthisis
Anemia ORPHA:655
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Respiratory insufficiency, Sparse hair, Aspiration pneumonia, Neutropenia,... OMIM:618253
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Purulent rhinitis, T lymphocytopenia, B lymphocytopenia, Pneumonia OMIM:601457
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypercellularity, Hepatocellular carcinoma, Thyroid carcinoma, Lymphocytosis, Increas... ORPHA:3261
Immunodeficiency 54
Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Respiratory insufficiency, Lymphadenopa... OMIM:609981
Schimke Immuno-Osseous Dysplasia
Non-Hodgkin lymphoma, Lymphoproliferative disorder, Transient ischemic attack, Abnormality of thy... ORPHA:1830
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... ORPHA:846
Trichothiodystrophy 3, Photosensitive
Brittle hair, Bilateral cryptorchidism, Abdominal adhesions, Neoplasm of the skin, Neutropenia, T... OMIM:616395
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Lymphoid hyperplasia, Increased B cell count OMIM:616452
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Megaloblastic anemia, Congestive heart failure, Paroxysmal atrial tachycardia, Le... ORPHA:49827
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Foot oligodactyly, Amelia OMIM:601357
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Petechiae, Elevated circulating aspartate aminotransferase co... OMIM:170100
Omenn Syndrome
Hepatomegaly, Alopecia, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphoma, Thyroiditi... ORPHA:39041
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Stuve-Wiedemann Syndrome 2
Respiratory distress, Pulmonary arterial hypertension, Congestive heart failure, Thrombocytopenia OMIM:619751
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Ataxia, Pneumonia, Pure red cell apl... OMIM:613179
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Myelodysplasia, Decreased mean platelet volume, Acute... OMIM:185050
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy, Hyperhi... ORPHA:86893
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ... OMIM:250250
Myh9-Related Disease
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Increas... ORPHA:182050
Ebola Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Dyspnea, Hepatitis, Melena, L... ORPHA:319218
Dyskeratosis Congenita, X-Linked
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Hyperhidrosis, Leukopenia, Premat... OMIM:305000
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Hemangioma-Thrombocytopenia Syndrome
Hemangioma, Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... ORPHA:1860
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Asthma, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Mitral regur... OMIM:619750
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... OMIM:193300
Immunodeficiency 23
Hemolytic anemia, Ataxia, Eosinophilia, Abscess, Allergic rhinitis, Asthma, Bronchiectasis, Hodgk... OMIM:615816
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Asthma, Recurrent pneumonia, Bronchiectasis, Neutropenia, Lymphopenia, Reduced natural killer cel... OMIM:619752
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Acanthocytosis OMIM:607236
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Sideroblastic anemia, Respiratory distress, Hepatomegaly, Respirat... OMIM:613561
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... OMIM:615122
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Sparse scalp hair, Ataxia, Anemia, Premature graying of hair, Neop... ORPHA:3322
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Asthma, Synophrys, Hepatospleno... OMIM:606003
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Respiratory insufficiency, Hepatomegaly ORPHA:139406
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Lymphadenopathy, Hypoxemia, Hy... ORPHA:79126
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:612714
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:616433
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... OMIM:617948
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Decreased liver function, Thrombocytopenia ORPHA:67048
Indolent Systemic Mastocytosis
Hepatomegaly, Hematological neoplasm, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased prop... ORPHA:98848
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Lethargy, Thrombocytopenia OMIM:277380
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Hematological neoplasm, Leukocytosis, Dilated cardiomyopath... ORPHA:3243
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Anemia OMIM:610090
Lymphoproliferative Syndrome 3
Lymphoproliferative disorder, Hodgkin lymphoma, Lymphadenopathy, Hepatosplenomegaly, Reduced natu... OMIM:618261
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Inability to walk, Stomatocytosis OMIM:608885
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Beta-Ketothiolase Deficiency
Hepatomegaly, Ataxia, Leukocytosis, Tachypnea, Hypertension, Hypotension, Cough, Thrombocytosis ORPHA:134
Abetalipoproteinemia
Ataxia, Acanthocytosis OMIM:200100
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Alopecia totalis, Myelodysplasi... ORPHA:221016
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Hyperparathyroidism, Splenomegaly, Anemia OMIM:618107
Glioma Susceptibility 3
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... OMIM:613029
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... OMIM:147750
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Pericarditis, Leukopenia OMIM:152700
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Reduced natural killer ce... OMIM:618108
Developmental Delay, Hypotonia, And Impaired Language
Cryptorchidism, Recurrent pneumonia, Ataxia, Neutropenia OMIM:620012
Familial Pseudohyperkalemia
Reticulocytosis, Hypertension, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Thr... ORPHA:85212
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... OMIM:602450
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Alopecia, Chronic pulmonary obstruction, Recurrent pneumonia, Bronch... OMIM:616576
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopeni... OMIM:235400
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Preeclampsia
Elevated hepatic transaminase, Elevated diastolic blood pressure, Hypertension, Elevated systolic... ORPHA:275555
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Thrombocytopenia ORPHA:3327
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Anemia, Dyspnea ORPHA:75563
Abetalipoproteinemia
Elevated hepatic transaminase, Reticulocytosis, Hepatomegaly, Broad-based gait, Ataxia, Abnormal ... ORPHA:14
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hypothyroidism, Pneumothorax, Choreoathetosis, Cardiomyopathy, Res... ORPHA:445038
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Fair hair, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuol... OMIM:269920
Boutonneuse Fever
Elevated hepatic transaminase, Petechiae, Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, ... ORPHA:83313
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Alopecia, Aplastic anemia, Ataxia, Cryptorchidism, Osteoporosis, Fine hair, Prematu... OMIM:613990
Diamond-Blackfan Anemia 11
Granulocytic hypoplasia, Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia OMIM:614900
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ataxia, Thiamine-responsive megaloblastic anemia, Cryptorchidism, Cardiomyo... OMIM:249270
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... ORPHA:56305
Potocki-Shaffer Syndrome
Hypertension, Nephroblastoma, Decreased skull ossification, Hypothyroidism, Anemia, Exostoses ORPHA:52022
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Myelodysplasia, Erythroid hypoplasia, Low anterior... ORPHA:124
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the pancreas, Abnormal lym... ORPHA:543
Niemann-Pick Disease, Type A
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... OMIM:257200
Hypobetalipoproteinemia, Familial, 1
Elevated circulating alanine aminotransferase concentration, Ataxia, Elevated circulating asparta... OMIM:615558
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Respiratory insufficiency, Anemia, Leukopenia, Respiratory failure, Pulmonary arter... OMIM:613845
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairli... OMIM:613224
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m... OMIM:100800
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Lymp... OMIM:618495
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Petechiae, Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Inter... OMIM:620296
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Dyspnea, Leukocytosis, Cholestasis, Ly... ORPHA:293173
Autosomal Agammaglobulinemia
Sinusitis, Neutropenia, Hepatitis, Bronchiectasis, Cough, Verrucae ORPHA:33110
Classic Hodgkin Lymphoma
Hepatomegaly, Ataxia, Splenomegaly, Lymphoma, Osteolysis, Respiratory insufficiency, Lymphadenopa... ORPHA:391
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Hip disloca... ORPHA:968
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Mirage Syndrome
Petechiae, Hypergonadotropic hypogonadism, Myelodysplasia, Cryptorchidism, Radial club hand, Anem... OMIM:617053
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... OMIM:557000
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Impotence, Ischemic stroke, Thrombocytopenia OMIM:615750
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Leukoc... ORPHA:1302
Juvenile Temporal Arteritis
Allergic rhinitis, Eosinophilia, Leukocytosis, Vasculitis, Cerebral ischemia ORPHA:26137
Sandhoff Disease
Splenomegaly, Ataxia, Congestive heart failure, Hepatomegaly ORPHA:796
Choreoacanthocytosis
Progressive choreoathetosis, Acanthocytosis OMIM:200150
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Thrombocytopenia ORPHA:290
Whim Syndrome
Bone marrow hypercellularity, Sinusitis, Pneumonia, Myelokathexis, Lymphadenitis, Recurrent pneum... ORPHA:51636
Immunodeficiency 92
Hepatomegaly, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-switched memory... OMIM:619652
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Reduced bone mine... ORPHA:172
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Myelodysplasia, Premature graying of hair, Restrictive ventilatory defect, Bone mar... OMIM:619767
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Reticulocytosis OMIM:130600
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Male infertility, Premature ovarian insufficiency, A... ORPHA:79239
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Rosaï-Dorfman Disease
Osteolysis, Anemia, Lymphadenopathy ORPHA:158014
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Hematological neoplasm, Neuroblastoma, Impaired plate... OMIM:173420
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Alopecia, Increased mean platelet volume, Impaired ADP-induced platelet aggreg... OMIM:617443
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... OMIM:608728
Ataxia-Telangiectasia
Elevated hepatic transaminase, Hypopigmentation of hair, Ataxia, Telangiectasia of the skin, Abno... ORPHA:100
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Jaundice, Hepato... OMIM:603553
Holocarboxylase Synthetase Deficiency
Alopecia, Tachypnea, Lethargy, Thrombocytopenia, Hyperventilation OMIM:253270
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... ORPHA:892
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Reticulocytopenia... OMIM:227646
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... OMIM:615952
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Gastrointestinal hemorrhage, Sple... ORPHA:79301
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Generalized lymphadenopathy, Ataxia, Splen... ORPHA:50918
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Ataxia, Thick hair, Hepatosplenome... ORPHA:263501
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... ORPHA:3002
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Dyspnea, Splenomegaly, Tachypnea, Primary hyperparathyroidism, Anemia OMIM:239200
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... OMIM:301045
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Osteosclerosi... OMIM:602080
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis OMIM:300635
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Increased bone mineral density, Craniosynostosis, Splenomegaly, Anemi... OMIM:259700
Bloom Syndrome
Neoplasm, Neoplasm of the breast, Decreased proportion of CD4-positive T cells, Male infertility,... ORPHA:125
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Apnea, Albinism, Splenomegaly, Neutropenia OMIM:617050
Bloom Syndrome
Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidism, Lymphoma, Bronchiectasis... OMIM:210900
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Bronchiectasis, Lymphadenopathy, Increased proportion of memory T cells, Hepatosplenomegaly, Incr... OMIM:618982
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Cerebral hemorrhage, Hepatosplenomegaly OMIM:301081
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Prolonged prot... OMIM:267700
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal bleeding, Hepatomegaly, Respiratory failure requiring assisted ventilation, Osteopenia, ... ORPHA:77293
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Wheezing, Recurrent pneumonia, Bronchiectasis, T... OMIM:300755
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar... OMIM:608940
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph... ORPHA:2502
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Anemia OMIM:617408
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... OMIM:620076
Poikiloderma With Neutropenia
Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Telangiectasia, Low posterior hairline, Leukop... OMIM:604173
Hemochromatosis, Type 4
Hepatomegaly, Cardiomyopathy, Impotence, Cirrhosis, Arrhythmia, Hepatic steatosis, Anemia OMIM:606069
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Intraventricular hemorrhage, Reduced number of intrahepatic bile ducts, Neu... ORPHA:79284
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card... OMIM:602390
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Prolonged prothrombin time, Neutropenia, Hyperechogenic pancreas... OMIM:617941
Reticular Dysgenesis
Anemia, Leukopenia, Aplasia/Hypoplasia of the thymus, Abnormality of neutrophils ORPHA:33355
Short Stature With Microcephaly And Distinctive Facies
Osteopenia, Sparse scalp hair, Sparse eyebrow, Anisopoikilocytosis, Anemia OMIM:615789
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocy... ORPHA:436159
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Abnormal bleeding, Thrombocytopenia OMIM:314000
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Dyspnea, Mediastinal lymphadenopathy, Bronchiectasis, T... ORPHA:169105
Stt3B-Cdg
Respiratory distress, Cryptorchidism, Thrombocytopenia ORPHA:370924
Cinca Syndrome
Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Splenomegaly, Leukocytosis... ORPHA:1451
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... OMIM:242700
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Osteopenia, Pancytopenia, Ataxia, Portal hypertension, Retinal telan... OMIM:617341
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan... ORPHA:54251
Rh-Null, Regulator Type
Hemolytic anemia, Jaundice, Stomatocytosis OMIM:268150
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Cryptorchidism, Thrombocytopenia OMIM:615597
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Petechiae, Cere... OMIM:617397
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Craniosynostosis, Splenomegaly,... ORPHA:525731
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Premature ovarian insu... ORPHA:2959
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Sinusitis, Splenomegaly, Lymphadenopathy, Anemia, Ly... OMIM:617591
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... OMIM:618048
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Highly arched eyebrow, Supernumerary nipple, Myelodysplasia, Cryptorchidism, Leukemia, Bicoronal ... OMIM:619951
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Nail dystrophy, Testicular atrophy, Thrombo... OMIM:613987
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Anhidrosis, Pneumonia, Splenomegaly, Lymphadenopathy, Neoplasm, T... ORPHA:169090
Developmental And Epileptic Encephalopathy 50
Broad-based gait, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Anemia OMIM:616457
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... OMIM:611590
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Anemia, Pulmonary embolism OMIM:614514
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Ep... OMIM:614034
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Ascites, Respiratory insufficiency, Anemia ORPHA:1046
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... OMIM:600785
Spondyloepiphyseal Dysplasia Congenita
Short femur, Micrognathia, Abnormal foot morphology, Upper limb undergrowth, Flat acetabular roof... ORPHA:94068
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia, Verrucae, Recurrent sinus... OMIM:618969
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Oropharyngeal squamous cell carcinoma, Autoimmune thromb... ORPHA:391487
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis, Generalized hirsutism ORPHA:79087
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Gastroin... ORPHA:1572
Turcot Syndrome With Polyposis
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... ORPHA:99818
Nijmegen Breakage Syndrome
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, R... ORPHA:647
Immunodeficiency 44
Lymphopenia, Elevated circulating alanine aminotransferase concentration OMIM:616636
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic neutropenia, Curly eyelashes, Sparse pubic hair, Lymphocytosis, Short eyelash... OMIM:258360
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidism, Spherocytosis, Azo... ORPHA:251066
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Abnormal bleeding, Sinusitis, Pneumonia, Lymphocytic interstitial pneumon... ORPHA:2968
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia OMIM:612562
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... OMIM:618935
Stormorken Syndrome
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Anemia, Hyp... OMIM:185070
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... OMIM:251230
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Peritonitis, Hypertension, ... ORPHA:90038
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia ORPHA:1508
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Neonatal respiratory distress, Cardiac arrest, Akinesia, Acanthocytosis, Restr... OMIM:618947
Immunodeficiency 10
Kaposi's sarcoma, Autoimmune hemolytic anemia, Hypohidrosis, Lymphadenopathy, Thrombocytopenia OMIM:612783
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, B lymphocytopenia, Chronic sinusitis, Abnormal T cell morphology OMIM:612692
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Curly hair, Sparse scalp hair, Myelofibrosis, Cryptorchidism, Hypertrophic ... OMIM:607721
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial... ORPHA:449285
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Cardiac arrest, Splenomegaly, Cough, Abnormal pattern of resp... ORPHA:77260
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Thyrocerebroretinal Syndrome
Ataxia, Thrombocytopenia OMIM:274240
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Chronic lung disease, Severe B lymphocytopenia, ... OMIM:620005
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, B lymphocytopenia OMIM:619851
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Neoplasm, Macular purpura, Hepatic fa... ORPHA:49566
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, Lymphadenopathy, T lymphocytopenia, R... OMIM:607944
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Enlarged tonsils, Anemia, Leukopenia, Elliptocytosis, Bone marrow hyp... ORPHA:2785
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Hemophagocytosis, Subcutaneous panniculitis-like T-cell lymphoma, Anemia OMIM:618398
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Pneumonia, Dyspnea, Peritonitis, Mediastinal lymphadenop... ORPHA:1546
Bacterial Toxic-Shock Syndrome
Respiratory distress, Shock, Tachycardia, Sinusitis, Abscess, Pneumonia, Myocarditis, Peritonitis... ORPHA:36234
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower... ORPHA:882
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Fusariosis
Brain abscess, Lung abscess, Sinusitis, Pneumonia, Hematological neoplasm, Productive cough, Abno... ORPHA:228119
Chylomicron Retention Disease
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Hepatic steatosis, Acanth... ORPHA:71
Cohen Syndrome
Leukopenia, Decreased response to growth hormone stimulation test, Thick eyebrow, Neutropenia OMIM:216550
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Nail dystrophy, Anemia, Sparse body hair ORPHA:79402
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Ataxia, Fluctuating splenomegaly, F... OMIM:610377
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa... ORPHA:829
Hydrops Fetalis, Nonimmune
Congestive heart failure, Anemia OMIM:236750
Beemer-Ertbruggen Syndrome
Cryptorchidism, Increased bone mineral density, Respiratory insufficiency, Thrombocytopenia ORPHA:1237
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Cholestasis, Anemia, Decreased liver function, Decreased circulatin... OMIM:608104
Proteus Syndrome
Splenomegaly, Facial hyperostosis, Mandibular hyperostosis, Multiple lipomas, Calvarial hyperosto... OMIM:176920
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Respiratory distress, Autoimmune hemolytic anemia, Hyperthyroidism... ORPHA:37042
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Osteoporosis, Respiratory insufficiency, Fine hair, Anemia, Leukopeni... OMIM:222700
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Adrenal insufficiency, Hepatic failu... ORPHA:75233
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary... OMIM:613490
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Dysmetr... OMIM:256550
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Hepati... OMIM:617872
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Os... OMIM:228000
Drug-Induced Lupus Erythematosus
Pericarditis, Petechiae, Dyspnea, Anemia, Prolonged QTc interval, Thrombocytopenia ORPHA:231111
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of t... ORPHA:44890
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Reduced systolic function, Microcytic anemia, Elevated circulatin... OMIM:618805
Stuve-Wiedemann Syndrome 1
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... OMIM:601559
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... OMIM:164900
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Recurrent pneumonia, Eosinophilia OMIM:610163
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Eosinophilia, Pneumonia, Autoimmune th... ORPHA:911
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis OMIM:604777
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Lymphoproliferative disorder, P... ORPHA:276
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Abnormality of thrombocytes, Anemia, Purpura ORPHA:3204
Braddock-Carey Syndrome 2
Megakaryocytopenia, Thrombocytopenia OMIM:619981
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Fractured radius, Decreased fibular diameter, Micrognathia, Flared metaphysis, Short... OMIM:616897
Caspase 8 Deficiency
Pneumonia, Splenomegaly, Asthma, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:607271
Congenital Disorder Of Glycosylation, Type Iic
Widow's peak, Neutrophilia, Pneumonia, Reduction of neutrophil motility OMIM:266265
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Sézary Syndrome
Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Nail ... ORPHA:3162
Slc35A2-Cdg
Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal long bone morphology, Talipes ... ORPHA:356961
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... OMIM:615438
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Brain ab... OMIM:187300
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Immunodeficiency 55
Absent natural killer cells, Myelodysplasia, Lymphadenopathy, Neutropenia, Lymphopenia OMIM:617827
Quebec Platelet Disorder
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... OMIM:601709
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Boomerang Dysplasia
Absent radius, Hypoplastic iliac body, Fibular aplasia OMIM:112310
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Congenital hypoplastic anemia, Splenomegaly, Leukoc... ORPHA:77297
Late-Onset Junctional Epidermolysis Bullosa
Hyperhidrosis, Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma,... ORPHA:79406
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Ataxia, Epiphyseal stippling ORPHA:251009
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the knee, Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphys... ORPHA:93316
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Respiratory distress, Gastrointestinal hemo... ORPHA:537
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Anemia ORPHA:2325
Fumarase Deficiency
Intrahepatic cholestasis, Cutaneous leiomyoma, Hepatic failure, Ascites, Polycythemia OMIM:606812
Lymphangiectasia, Intestinal
Abnormal hair morphology, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Shox-Related Short Stature
Micrognathia, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lower limb undergrowth... ORPHA:314795
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Metrorrhagia, Epistaxis, Albinism, Impai... OMIM:614074
Pediatric Systemic Lupus Erythematosus
Alopecia, Raynaud phenomenon, Dyspnea, Lymphadenopathy, Leukopenia, Ascites, Microangiopathic hem... ORPHA:93552
Multiple Epiphyseal Dysplasia Type 4
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double... ORPHA:93307
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Ataxia, Jaundice, Hepatosplenomegaly, Stomatocytosis ORPHA:168577
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Ataxia, Reticulocytosis OMIM:300653
Lathosterolosis
Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Hepati... ORPHA:46059
Junctional Epidermolysis Bullosa Inversa
Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Anemia ORPHA:79405
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Elevated circulating growth ... ORPHA:97280
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension, Respiratory paralysis OMIM:121300
Werner Syndrome
Myocardial infarction, Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, N... ORPHA:902
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Talipes... OMIM:607143
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Abnormal blee... ORPHA:480520
Biotinidase Deficiency
Hepatomegaly, Alopecia, Apnea, Ataxia, Splenomegaly, Tachypnea, Lethargy OMIM:253260
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Hepatomegaly ORPHA:2204
Pneumocystosis
Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug... ORPHA:723
Monosomy 22
Aplasia of the thymus, Schwannoma, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, ... ORPHA:96123
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypogonadotropic hypogonadism, Cardiomegal... OMIM:235200
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Dyspnea, Effort-induced polymorphic ventricular... ORPHA:3282
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... ORPHA:699
Eosinophilic Gastroenteritis
Allergic rhinitis, Eosinophilia, Leukocytosis, Asthma, Hematochezia, Ascites, Anemia ORPHA:2070
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Brain ab... OMIM:600376
Maternal Uniparental Disomy Of Chromosome 4
Ataxia, Acanthocytosis, Abnormal erythrocyte morphology, Dysmetria, Spastic gait ORPHA:96180
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Decreased proportion... ORPHA:169160
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Splenomegaly, Hamartomatous polyposis, Aplasia/Hypoplasia of the eyebrow,... ORPHA:2930
Blue Rubber Bleb Nevus
Iron deficiency anemia, Abnormality of the liver, Intestinal bleeding, Hemangioma, Thrombocytopen... OMIM:112200
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Sialidosis Type 2
Hepatomegaly, Ataxia, Dyspnea, Splenomegaly, Osteoporosis, Abnormal bone marrow cell morphology, ... ORPHA:87876
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Prolonged bleeding time, Pericarditi... ORPHA:809
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiecta... OMIM:616100
Immunodeficiency 22
Pericarditis, Abscess, Capillary leak, Anemia, Decreased proportion of CD4-positive helper T cell... OMIM:615758
Acute Radiation Syndrome
Abnormal bleeding, Telangiectasia, Interstitial pneumonitis, Granulocytopenia, Hypotension, Lymph... ORPHA:454831
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Prolonged bleeding following procedure, Hypothyroidism, Hepatic steatosis, Abnormal b... ORPHA:79259
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Pulmonary embolism, Microcyti... ORPHA:90308
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Asthma, Rhinitis, B lymphocytopenia, Decreased proportion of memory B cells ORPHA:70593
Pyoderma Gangrenosum
Myeloid leukemia, Myelodysplasia ORPHA:48104
Dubowitz Syndrome
Hypoparathyroidism, Sparse scalp hair, Abnormality of neutrophils, Craniosynostosis, Cryptorchidi... ORPHA:235
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Asthma, Recurrent pneumonia, Bronchie... OMIM:243700
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Hypoh... ORPHA:98813
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Hypothyroidism, Congenital, Nongoitrous, 6
Broad-based gait, Increased T3/T4 ratio, Congenital hypothyroidism, Impaired sensitivity to thyro... OMIM:614450
Bernard-Soulier Syndrome
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gastrointestinal hemorrhage, Hematemesis, Pr... ORPHA:274
Wolfram Syndrome 1
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Cardiomyopathy, Hypothyroidism, Thrombocytope... OMIM:222300
Mitochondrial Myopathy And Sideroblastic Anemia
Distichiasis, Anemia ORPHA:2598
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Respiratory insufficiency OMIM:618042
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Neo... ORPHA:760
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen... OMIM:232220
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... OMIM:613470
Overlap Myositis
Elevated hepatic transaminase, Raynaud phenomenon, Leukopenia, Hypertension, Difficulty walking, ... ORPHA:206572
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Tricuspid regur... OMIM:300972
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Osteopenia, Pancytopenia, Thin bony cortex, Portal hypertension, T... OMIM:613658
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal bleeding, Lymphopenia, Abnormal hair quantity ORPHA:1116
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Recurrent aspiration pneumonia, Thromb... OMIM:230900
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Inability to walk, Thrombocytopenia OMIM:616577
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Alopecia totalis, Normochromic anemia, Bradycardia, Cholelithiasis,... OMIM:618775
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic fibrosis... OMIM:616719
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... OMIM:616300
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Hermansky-Pudlak Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Hypopigmentation of hair, Menometrorrhagia, Epist... ORPHA:79430
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hypogonadism, Cardiomyopathy, Hepatomegaly OMIM:608540
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Osteo... ORPHA:464321
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Ataxia, Tachypnea, Dilated cardiomyopathy, Respiratory insuff... OMIM:614299
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Crackles, Cardiomegaly, Diffuse alveolar hemorrhage, Dyspnea, Heart murmur, Hepatos... ORPHA:99931
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Increased bone mineral density, Ataxia, Splenomegaly, Osteolysis, Ane... ORPHA:77261
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Nonproductive cough, Leukocytosis, Dyspnea, Hypereosinophilia, Wheezing, Asthma, Hypoxe... ORPHA:2902
Lathosterolosis
Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos... OMIM:607330
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:620010
Trichothiodystrophy
Osteopenia, Sparse scalp hair, Increased bone mineral density, Brittle hair, Craniosynostosis, Cr... ORPHA:33364
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Tarp Syndrome
Broad-based gait, Extramedullary hematopoiesis, Apnea, Abnormal hair pattern, Cryptorchidism, Thi... ORPHA:2886
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Ataxia, Portal hypertension, Raynaud phenomenon,... OMIM:615688
Infantile Myofibromatosis
Neoplasm of the pancreas, Benign neoplasm of the central nervous system, Abnormal hair morphology... ORPHA:2591
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Petechiae, Akinesia, Cardiomegaly, Splenomegaly, Hepat... OMIM:608013
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... ORPHA:1788
Vexas Syndrome
Macrocytic anemia, Megakaryocyte dysplasia, Myelodysplasia, Arteritis, Thrombocytopenia OMIM:301054
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Pericarditis, Pneumonia, Splen... ORPHA:781
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Bronchiectasis, Decreased basophil count, Decreased proportion of mem... OMIM:618394
Down Syndrome
Abnormality of the lymphatic system, Decreased fertility, Gait disturbance, Sparse hair, Hypothyr... ORPHA:870
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Dyskeratosis Congenita
Abnormality of neutrophils, White hair, Hyperhidrosis, Premature graying of hair, Neoplasm, Spars... ORPHA:1775
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Alopecia, Portal hypertension, Congenital hepatic fibrosis, Leukopen... ORPHA:974
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal bleeding, Splenomegaly, Chole... OMIM:614576
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Hepatomegaly ORPHA:79238
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Inability to walk, Vasculit... OMIM:225750
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... OMIM:206100
Sneddon Syndrome
Hypertension, Lymphopenia, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cryptorchidism, Hypertension, Gait disturbance, Anemia ORPHA:1192
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Biliary tract abnormality, Cholangitis, Neutropenia OMIM:209920
Acquired Ichthyosis
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma ORPHA:454
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Broad-based gait, Ataxia, Decreased response... OMIM:610978
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia, Anhidrosis OMIM:614979
Beckwith-Wiedemann Syndrome
Hepatomegaly, Nephroblastoma, Rhabdomyosarcoma, Cardiomegaly, Splenomegaly, Adrenocortical carcin... ORPHA:116
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Hypothyroidism, Hirsutism, Neutropenia OMIM:618005
Anti-Glomerular Basement Membrane Disease
Vasculitis, Respiratory insufficiency, Cough, Anemia, Purpura ORPHA:375
Self-Improving Dystrophic Epidermolysis Bullosa
Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Anemia ORPHA:79411
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Pantothenate Kinase-Associated Neurodegeneration
Osteopenia, Acanthocytosis, Choreoathetosis, Tip-toe gait, Gait disturbance, Loss of ambulation ORPHA:157850
Retinoblastoma
Glioma, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Lymphoma, Hyphema, Pineoblast... ORPHA:790
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Respiratory distress, Shock, Crackles, Excessive bleeding after a ... ORPHA:319213
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia OMIM:612528
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Galactosemia I
Hemolytic anemia, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ... OMIM:230400
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Respiratory failure, Osteopetrosis, Thrombocytopenia ORPHA:3240
Fanconi Anemia, Complementation Group I
Hypothyroidism, Bone marrow hypocellularity, Decreased response to growth hormone stimulation tes... OMIM:609053
Coach Syndrome 3
Portal fibrosis, Ataxia, Anemia OMIM:619113
Oslam Syndrome
Neoplasm, Anemia, Osteosarcoma OMIM:165660
Immunodeficiency, Common Variable, 6
Hepatomegaly, Purpura, Enlarged kidney, Autoimmune thrombocytopenia OMIM:613496
Galactosemia Iii
Splenomegaly, Jaundice, Hepatomegaly OMIM:230350
Legionnaires Disease
Pericarditis, Ataxia, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Respiratory insufficiency, ... ORPHA:549
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Ogden Syndrome
Apnea, Cardiomegaly, Microvesicular hepatic steatosis, Ventricular tachycardia, Iron deficiency a... OMIM:300855
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Bone cyst, Anemia ORPHA:2668
Dyskeratosis Congenita, Autosomal Recessive 8
Sparse scalp hair, Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Nail dystrophy, ... OMIM:620133
Patella Aplasia-Hypoplasia
Patellar aplasia, Patellar hypoplasia OMIM:168860
Focal Segmental Glomerulosclerosis 1
Hypertension, Pleural effusion, Ascites, Anemia OMIM:603278
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Scarring alopecia of scalp, Neonatal respiratory distress, Nail dystrophy, Anemia OMIM:226670
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia ORPHA:83601
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Tachycardia, Tricuspid regurgitation, Thick hair, Inability to walk, Conges... ORPHA:505248
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... ORPHA:93314
Wiskott-Aldrich Syndrome
Large vessel vasculitis, Iron deficiency anemia, Prolonged bleeding time, Absent microvilli on th... OMIM:301000
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Bronchiectasis, B lymphocytopenia, Rectal abscess, Recurrent sinusitis, Neut... OMIM:601495
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia ORPHA:51208
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopeni... OMIM:605432
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Hypertrophic cardiomyopathy, Anemia, Cardiomegaly OMIM:620135
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia, Ataxia, Cardiomyopathy OMIM:619046
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Elevated hepatic transaminase, Ataxia, Choreoathetosis, Arrhythmia, Neutropenia, Hypertrophic car... OMIM:615471
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor... ORPHA:447
Yellow Nail Syndrome
Renal neoplasm, Sinusitis, Biliary tract neoplasm, Dyspnea, Yellow nails, Bronchiectasis, Neoplas... ORPHA:662
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Talipes equinovarus OMIM:620306
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Pneumonia OMIM:614069
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Reduced sperm motility, Recurrent pneumonia, Restrictive ventilatory defect OMIM:602271
Pyruvate Dehydrogenase Deficiency
Ataxia, Dyspnea, Tachypnea, Osteolytic defects of the middle phalanx of the 4th toe, Choreoatheto... ORPHA:765
Osteogenesis Imperfecta, Type X
Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia, Tibial bowing, Genu ... OMIM:613848
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia, Dyspnea, Leukopenia, Palpitations, Difficulty walking, Anemia OMIM:255125
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal bleeding, Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Osteopenia, Neutrophilia, Abscess, Splenomegaly, Periostitis,... OMIM:612852
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse scalp hair, Pancytopenia, Aplastic anemia, Sparse eyelashes, Osteoporosis, Hepatic fibrosi... OMIM:224230
Mogs-Cdg
Respiratory distress, Hepatomegaly, Hypoventilation, Alopecia, Apnea, Cardiomegaly, Hirsutism, He... ORPHA:79330
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphoma, Recurrent pneumonia, Bronchiectasis... OMIM:240500
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu... ORPHA:2414
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Crackles, Dyspnea, Leukocytosis, Asthma, Wheezing, Bronchi... OMIM:620233
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Ataxia, Megaloblastic anemia, Pulmonary embolism, Jaundice, Dilated cardiom... ORPHA:79282
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Decreased liver f... OMIM:251290
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Hypophosphatasia
Craniosynostosis, Emphysema, Respiratory insufficiency, Anemia ORPHA:436
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... ORPHA:853
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Purpura, Pericarditis, B-cell lymphoma, Myocardial ... ORPHA:91139
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Leigh Syndrome
Alopecia, Ataxia, Frontal hirsutism, Congestive heart failure, Choreoathetosis, Athetosis, Respir... ORPHA:506
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Neutropenia... ORPHA:228426
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Craniosynostosis, Cryptorchidism, Hirsutism, Abnorma... OMIM:301056
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Increased pulmonary vascular resistanc... ORPHA:70591
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Congestive heart failure, Dilate... OMIM:611126
Diamond-Blackfan Anemia 1
Macrocytic anemia, Tricuspid stenosis, Myelodysplasia, Congenital hypoplastic anemia, Congestive ... OMIM:105650
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi... OMIM:615512
Fanconi Anemia, Complementation Group F
Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Anemia, Leukope... OMIM:603467
Amme Complex
Elliptocytosis OMIM:300194
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Leukopenia, Cholecystitis... ORPHA:99827
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Roifman Syndrome
Hepatomegaly, Noncompaction cardiomyopathy, Eosinophilia, Splenomegaly, Recurrent pneumonia, Prom... OMIM:616651
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc... OMIM:614946
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO, Pulmonary hemorrhage OMIM:616414
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormally ossified vertebrae, Heart block, Abnormality of the pancreas, Sparse eye... ORPHA:175
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Ataxia, Retinal telangiectasia, Osteoporosis, Fine hair, Anemia, Premature graying of... OMIM:612199
Arima Syndrome
Hepatomegaly, Ataxia, Dyspnea, Tachypnea, Hypertension, Hepatic fibrosis, Cirrhosis, Hepatic stea... OMIM:243910
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopa... ORPHA:563
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Hepatomegaly, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Los... OMIM:263700
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p... ORPHA:83471
Immunodeficiency 43
Bronchiectasis, Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Dysmetria, Athetosis, Cardiomyopathy, Thrombocytopenia OMIM:617710
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Recurrent pneumonia, Vasculitis, Decreased mean platelet volume, Lympha... OMIM:617718
Alg8-Cdg
Elevated hepatic transaminase, Ataxia, Anemia, Ascites, Thrombocytopenia ORPHA:79325
Neurofibromatosis Type 1
Abnormal hair quantity, Astrocytoma, Ataxia, Cryptorchidism, Chronic myelogenous leukemia, Multip... ORPHA:636
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Farber Disease
Elevated hepatic transaminase, Respiratory distress, Intrahepatic cholestasis with episodic jaund... ORPHA:333
Noonan Syndrome 2
Curly hair, Mitral stenosis, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Cardiomyopat... OMIM:605275
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Soft tissue sarcoma ORPHA:2023
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Progressive Osseous Heteroplasia
Ectopic ossification in muscle tissue, Sarcoma ORPHA:2762
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Leukocytosis, Cardiorespiratory arrest, Multiple myeloma, Cough, Hypot... ORPHA:188
Selective Igm Deficiency
Lymphadenitis, Decreased proportion of transitional B cells, Thyroid carcinoma, Decreased proport... ORPHA:331235
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Abnormal hair morphology, Elliptocytosis ORPHA:86818
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... OMIM:616828
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa... ORPHA:545
Immunodeficiency 87 And Autoimmunity
Hepatic steatosis, Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, ... OMIM:619573
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Dilated c... OMIM:615895
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Cardiac arrest, Splenomegaly, Cough... ORPHA:99745
Free Sialic Acid Storage Disease
Hepatomegaly, Ataxia, Splenomegaly, Reduced bone mineral density, Athetosis, Gait disturbance, As... ORPHA:834
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Sudden cardiac death, Cardiomegaly, Tachypnea, Hepatocellular necrosis, Periportal ... OMIM:201475
Diamond-Blackfan Anemia 21
Aortic regurgitation, Erythroid hypoplasia, Synophrys, Widow's peak, Anemia, Coarse hair, Horizon... OMIM:620072
Stevens-Johnson Syndrome
Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Dyspareunia, A... ORPHA:36426
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Reduced natural killer cell count OMIM:242860
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Abnormal lef... ORPHA:45452
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the pancreas, White hair, Fine hair, Reduced bone mineral density, Lymphopenia, An... ORPHA:935
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Glioma, Premature ovarian in... OMIM:251260
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs OMIM:114000
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Pulmonary embolism, Iron deficiency anemia, Budd-Chiari syndrome, Thrombocytosis, I... OMIM:226300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegal... OMIM:211600
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis, Hirsutism OMIM:612526
Zygomycosis
Sinusitis, Acute infectious pneumonia, Cough, Neutropenia, Brain abscess, Mediastinal lymphadenop... ORPHA:73263
Brucellosis
Liver abscess, Hyperhidrosis, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocytosis, L... ORPHA:1304
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Lung abscess, Dyspnea, Leukocytosis, Congestive hea... ORPHA:67
Vici Syndrome
Hypopigmentation of hair, Left ventricular hypertrophy, Albinism, Congestive heart failure, Dilat... OMIM:242840
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Absces... ORPHA:400
Retinoblastoma
Lymphoma, Vitreous hemorrhage, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Muckle-Wells Syndrome
Hepatomegaly, Splenomegaly, Vasculitis, Restrictive ventilatory defect, Anemia ORPHA:575
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... OMIM:223800
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Disseminated cutaneous warts, Abnormal lymphatic vessel morphology, Intestin... ORPHA:90362
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Highly arched eyebrow, Splenomegaly, Cryptorchidism, Hepatosple... OMIM:613563
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Highly arched eyebrow, Trichiasis, Neutropenia, Lymphopenia, Anemia OMIM:618460
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Synophrys, Lymphopenia, Premature ovarian insufficiency ORPHA:391307
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... OMIM:600802
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal hair quantity, Elevated circulating growth ho... ORPHA:2796
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Hypothyroid... OMIM:615486
Joubert Syndrome 33
Splenomegaly, Apnea, Ataxia OMIM:617767
Alveolar Echinococcosis
Liver abscess, Ataxia, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic ... ORPHA:284
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Hyperhidrosis, Lethargy, Hepatomegaly,... ORPHA:1329
Mosaic Variegated Aneuploidy Syndrome 1
Cryptorchidism, Embryonal rhabdomyosarcoma, Leukemia, Pulmonic stenosis, Nephroblastoma OMIM:257300
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg... ORPHA:59303
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Ataxia, Reticulocytosis ORPHA:713
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Recurren... ORPHA:35078
Marburg Hemorrhagic Fever
Nonproductive cough, Abnormal number of granulocyte precursors, Leukopenia, Lethargy, Abnormal ly... ORPHA:99826
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Splenomegaly, Leukocytosis, Choreoathetosis,... OMIM:615673
Hellp Syndrome
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... ORPHA:244242
Intellectual Developmental Disorder, Autosomal Dominant 54
Anhidrosis, Apnea, Ataxia, Inability to walk, Neutropenia, Sparse hair, Hyperventilation OMIM:617799
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Abnormal thymus morphol... OMIM:611926
Exercise-Induced Malignant Hyperthermia
Abnormal bleeding, Prolonged QT interval, Anhidrosis, Ataxia, Sinus tachycardia, Crackles, Tachyp... ORPHA:466650
Dermotrichic Syndrome
Nail dystrophy, Anemia, Hypohidrosis ORPHA:99688
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Cardiomyopathy, Rhinitis, Generalized hir... ORPHA:93476
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Hydrocele testis, Coarse hair, Lymphopenia OMIM:605309
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Hypertrophic cardiomyopathy, Respiratory insufficiency, Anemia ORPHA:1842
Bazex Syndrome
Yellow nails, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Anemia, Liposarcoma ORPHA:166113
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia OMIM:608232
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Ataxia, Myocardial infarction, Splenomeg... ORPHA:3452
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Spl... ORPHA:264580
17Q11 Microdeletion Syndrome
Osteopenia, Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Osteopor... ORPHA:97685
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Senior-Loken Syndrome 4
Anemia OMIM:606996
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... ORPHA:99901
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Apnea, Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Osteolysis, Acut... ORPHA:1052
Braddock-Carey Syndrome 1
Sparse hair, Curly hair, Thrombocytopenia OMIM:619980
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Melanonychia, Pancreatic adenocarcinoma, Neoplasm of the nose, Bilia... ORPHA:2869
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra... OMIM:232800
Atelosteogenesis, Type Iii
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Tombstone-shaped proximal phalanges, Flat ac... OMIM:108721
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Exertional dyspnea ORPHA:90037
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Hyperhidrosis, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrh... ORPHA:340
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Hereditary Coproporphyria
Tachycardia, Hepatocellular carcinoma, Extension of hair growth on temples to lateral eyebrow, Re... ORPHA:79273
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Generalized osteosclerosis, Anemia ORPHA:53
Fanconi Anemia, Complementation Group S
Ataxia, Low anterior hairline, Breast carcinoma, Ovarian neoplasm, Long eyelashes, Ovarian carcin... OMIM:617883
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal bleeding, Hepatic melanin-like lyso... OMIM:208085
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Bowing of the legs, Trapezoidal distal femoral condyles, Femoral bo... OMIM:307800
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Thick hair, Splenomegaly, Cirrhosis, Hepatic... OMIM:613489
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Corneal ... OMIM:617388
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia, Abnormal granulocytopoietic cell morphology OMIM:612376
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Nail dystrophy, Testicular atrophy, An... OMIM:618165
Smith-Kingsmore Syndrome
Cryptorchidism, Curly hair, Thrombocytopenia OMIM:616638
Acquired Von Willebrand Syndrome
Normocytic anemia, Refractory anemia, Aortic regurgitation, Gastrointestinal hemorrhage, Metrorrh... ORPHA:99147
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... OMIM:258315
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... OMIM:300751
Lysinuric Protein Intolerance
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Osteopenia, Bone marrow hypercell... ORPHA:470
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Shigellosis
Abscess, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Cholestasis, Hypovolemic shock, Micro... ORPHA:810
Pelvis-Shoulder Dysplasia
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... ORPHA:2839
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Asthma, Cranial hyperostosis, Imbala... ORPHA:330015
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... OMIM:609162
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Anemia OMIM:620366
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Hyp... OMIM:220110
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Alopecia, Decreased response to g... ORPHA:293978
Ivic Syndrome
Leukocytosis, Arrhythmia, Thrombocytopenia ORPHA:2307
Amyloidosis, Familial Visceral
Splenomegaly, Hypertension, Cholestasis, Hepatomegaly OMIM:105200
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, Ataxia, Fetal ascites, Bone-marrow foam cells, Splen... OMIM:607625
Lesch-Nyhan Syndrome
Anemia ORPHA:510
Hyperparathyroidism, Transient Neonatal
Short femur, Metaphyseal spurs, Femoral bowing, Short long bone, Short ribs, Fractured rib OMIM:618188
Familial Benign Copper Deficiency
Early balding, Anemia ORPHA:1551
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ... OMIM:206920
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... OMIM:617925
Herpes Simplex Virus Encephalitis
Respiratory failure requiring assisted ventilation, Leukocytosis, Neutrophilia ORPHA:1930
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair, ... OMIM:252920
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Ataxia, Fetal ascites, Bone-marrow foam cells, Sple... OMIM:257220
Zika Virus Disease
Subcutaneous hemorrhage, Thrombocytopenia ORPHA:448237
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Cardiac arrest, Dyspnea, Myoc... ORPHA:139402
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... OMIM:214900
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Gait disturbance, Decreas... ORPHA:436271
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, ... ORPHA:79240
Joubert Syndrome 7
Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Neonatal breathing dysregulation OMIM:611560
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Testicular atrophy, Portal hyper... ORPHA:465508
Noonan Syndrome 4
Abnormal bleeding, Curly hair, Sparse eyebrow, Cryptorchidism, High anterior hairline, Pulmonic s... OMIM:610733
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Abnormal bleeding, Brain neoplasm, Metrorrhagia, Pelvic mass, Jaundice,... ORPHA:370348
Orthostatic Hypotension 2
Orthostatic hypotension, Anemia OMIM:618182
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crackles, ... ORPHA:264675
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... ORPHA:85165
Psoriasis 14, Pustular
Nail dystrophy, Leukocytosis, Neutrophilia, Cholangitis OMIM:614204
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Neurofibr... ORPHA:137605
Neuroblastoma, Susceptibility To, 1
Abdominal mass, Ataxia, Ganglioneuroblastoma, Hypertension, Neuroblastoma, Ganglioneuroma, Anemia OMIM:256700
Atypical Rett Syndrome
Sudden episodic apnea, Episodic tachypnea, Inability to walk, Gait ataxia, Gait disturbance, Loss... ORPHA:3095
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Anemia ORPHA:99927
3-Methylglutaconic Aciduria, Type Viii
Apnea, Jaundice, Hypopnea, Respiratory failure, Bradycardia, Neutropenia, Respiratory arrest OMIM:617248
Cohen Syndrome
Thick hair, Abnormal eyelash morphology, Cryptorchidism, Low anterior hairline, Long eyelashes, N... ORPHA:193
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Ellis Van Creveld Syndrome
Abnormal hair quantity, Abnormal hair morphology, Cryptorchidism, Acute leukemia, Abnormal bone m... ORPHA:289
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Nonproductive cough, Xerostomia, Leukopenia, Raynaud... ORPHA:289390
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Cough, Emphysema, Hypot... ORPHA:797
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Acute Lung Injury
Respiratory distress, Shock, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea,... ORPHA:178320
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Hepatomegaly, Generalized lymphadenopathy, Pneumonia, Hematemesis... OMIM:615846
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly, Dyspnea, Pneumothorax, Mediastinal lymphadenopathy, Bronchiectasis, H... OMIM:612387
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Ataxia, Splenomegaly, Gait disturbance, Sea-blue histiocytosis, Thin bony cortex OMIM:230600
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Cryptorchidism, Giant platelets, Anemia, Left ventricular hypertrophy, Cholesteatoma,... OMIM:611209
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Glycogen Storage Disease Ic
Hepatomegaly, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hypertension, Hepatoce... OMIM:232240
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Prolonged QT interval, Tachyca... ORPHA:26793
Pyknoachondrogenesis
Micromelia, Short iliac bones, Abnormal iliac wing morphology, Short long bone, Short ribs, Aplas... ORPHA:3003
Hatipoglu Immunodeficiency Syndrome
Anhidrosis, Pancytopenia, Cryptorchidism, Asthma, Anemia, Premature graying of hair, Fair hair, P... OMIM:620331
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... OMIM:611881
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Hypopigmentation of hair, Brittle hair, Increased mean platel... ORPHA:84064
Gaucher Disease
Abnormal bleeding, Hepatomegaly, Pancytopenia, Osteopenia, Ataxia, Increased bone mineral density... ORPHA:355
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Nai... ORPHA:31150
Spondyloepimetaphyseal Dysplasia, Shohat Type
Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Limb undergrowth, Narr... OMIM:602557
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure ORPHA:75234
Juvenile Xanthogranuloma
Hyphema, Myeloproliferative disorder ORPHA:158000
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Macrocytic anemia, Alopecia, Hypergonadotropic hypogonadism, Autoimmune thrombocytope... ORPHA:227990
Wilson Disease
Acute hepatic failure, Hemolytic anemia, Hepatomegaly, Hypoparathyroidism, Elevated circulating a... OMIM:277900
Cardiocranial Syndrome, Pfeiffer Type
Episodic tachypnea, Sagittal craniosynostosis, Cryptorchidism, Abnormal hair whorl, Sparse hair ORPHA:2872
Dubowitz Syndrome
Sparse scalp hair, Aplastic anemia, Cryptorchidism, Lymphoma, Acute lymphoblastic leukemia, Neuro... OMIM:223370
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Micrognathia, Abnormality of the lower limb, Abnormal fi... ORPHA:3035
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Gastrointestinal stroma tumor, Mediastinal lymphadenopa... ORPHA:139411
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Delayed epiphyseal ossification, Tachypnea, Hypertension, Pulmonary arterial hypert... OMIM:613320
Reni Syndrome
Ataxia, Cryptorchidism, Adrenal insufficiency, Hypogonadism, Lymphopenia, Hypothyroidism OMIM:617575
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Neonatal respiratory distress, Hepatomegaly, Decreased heart ... OMIM:619005
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Ataxia, Cryptorchidism, Dilated cardiomyopathy, Dysmetria, Dysdiadochokinesis, ... OMIM:616541
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Arterial rupture, Coarse hair, Bruising susceptibility, Thrombocytopenia OMIM:612394
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Enchondroma, Neonatal alloimmune thrombocytopenia, Cardiomegaly, R... ORPHA:51
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, B-cell lymphoma, Pneumonia, Follicular hyperplasia, Osteom... OMIM:619381
Chronic Granulomatous Disease
Hepatomegaly, Sinusitis, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lym... ORPHA:379
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... ORPHA:100075
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Congenital hypothyroidism, Delayed ossification of carpal bones, Neutropenia, Laryngo... OMIM:271510
Muckle-Wells Syndrome
Leukocytosis OMIM:191900
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Thrombocytopenia ORPHA:96181
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Tachycardia, Cardiac shunt, Cardiomegaly, Congestive heart failure, Tachypnea, Left... ORPHA:860
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Copper Deficiency, Familial Benign
Curly hair, Early balding, Anemia OMIM:121270
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Anemia, Cardiomegaly OMIM:618838
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Macrocytic anemia, Alopecia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyro... ORPHA:227982
Recon Progeroid Syndrome
Thrombocytopenia, Absent lower eyelashes, Hirsutism, Anemia OMIM:620370
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis OMIM:120100
Primary Sclerosing Cholangitis
Acute hepatic failure, Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fib... ORPHA:171
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Vasculitis, Lymphadenopathy, Increased proportion of CD4-positive T c... OMIM:617099
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Acanthocytosis, Choreoathetosis, Bradykinesia, Gait disturbance OMIM:234200
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Ataxia, Splenomegaly, Dyspnea, Lymphoma, Lymphadenopathy, Small vessel vasculitis, ... ORPHA:36412
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Acromelic Frontonasal Dysostosis
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... OMIM:603671
Thrombocytopenia 3
Thrombocytopenia, Petechiae, Epistaxis, Decreased mean platelet volume OMIM:273900
Atelis Syndrome 2
Dyspnea, Dysmetria, Supravalvar pulmonary stenosis, Anemia, Vitreous hemorrhage, Pulmonic stenosi... OMIM:620185
Coronary Arterial Fistula
Orthopnea, Abnormal EKG, Continuous heart murmur, Elevated jugular venous pressure, Tachycardia, ... ORPHA:2041
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Lumbar hypertrichosis, Cryptorchidism, Abnormal hair whorl... ORPHA:163956
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Ataxia, Hypergonadotropic hypogonadism, Loss of ambulation, Hypertrophic cardiomyop... OMIM:607426
Scrub Typhus
Abnormal bleeding, Dyspnea, Splenomegaly, Myocarditis, Lymphadenopathy, Hyperhidrosis, Restrictiv... ORPHA:83317
Cowden Syndrome 1
Hyperthyroidism, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Carcinoma, Hamartomat... OMIM:158350
Pfapa Syndrome
Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:42642
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair, Dense calvaria... OMIM:252900
Fanconi Anemia, Complementation Group B
Hypogonadism, Hypergonadotropic hypogonadism, Aplastic anemia, Thrombocytopenia OMIM:300514
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... OMIM:263520
Recessive Dystrophic Epidermolysis Bullosa Inversa
Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Anemia ORPHA:79409
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Gastrointestinal hemorrhage, Primary testicular failure, Petechia... ORPHA:85450
Glycogen Storage Disease Ixb
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Fanconi Anemia, Complementation Group P
Cryptorchidism, Pancytopenia, Anemia, Squamous cell carcinoma OMIM:613951
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Synophrys, Elliptocytosis, Anemia OMIM:300990
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Dilated cardiomyopathy, Mitral regu... ORPHA:261250
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Neonatal respiratory distress, Ataxia, Abnormal T cell subset distribution, Low poste... ORPHA:221139
Noonan Syndrome 1
Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Male infer... OMIM:163950
Rift Valley Fever
Elevated hepatic transaminase, Abnormal bleeding, Hematemesis, Jaundice, Hepatitis, Retinal hemor... ORPHA:319251
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Unsteady gait, Gait ataxia, Normochromic anemia, Pleural effusion, Thrombocytopenia OMIM:254900
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Delayed ossification of carpal bones, Eosinophilia, Hepatic cysts OMIM:617425
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Prolonged QTc... ORPHA:90065
Gm1-Gangliosidosis, Type I
Hepatomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Dilated cardiomyopa... OMIM:230500
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Postural hypotension with compensatory t... ORPHA:85443
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Apnea, Episodic tachypnea, Hyperhidrosis, Aspiration pneumonia, Loss of ambulation ORPHA:79264
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Sagittal craniosynostosis, Cryptorchidism, Pulmonic stenosis, L... OMIM:609942
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Anisocytosis OMIM:604273
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Portal hypertension, Reduced forced expiratory volume in one second, ... OMIM:613385
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Craniosynostosis, Decreased proportion of CD8-positive T cells, Inability to walk, ... ORPHA:508533
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Citrullinemia Type I
Lethargy, Hepatic failure, Tachypnea, Ataxia ORPHA:247525
Catel-Manzke Syndrome
Short humerus, Short metacarpal, Short femur, Micrognathia, Short toe, Genu valgum, Hyperphalangy... OMIM:616145
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia OMIM:613092
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Genu valgum OMIM:617798
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Micrognathia, Tibial bowing, Hypoplastic iliac wing, Short tibia, Small proximal tibial epiphyses... ORPHA:96334
Solitary Rectal Ulcer Syndrome
Hematochezia, Anemia ORPHA:209964
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Lymphoma, Leukonychia, Chylo... ORPHA:2526
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Pericarditis, ... OMIM:619487
Aredyld Syndrome
Hepatomegaly, Craniofacial hyperostosis, Splenomegaly, Refractory anemia with ringed sideroblasts... ORPHA:1133
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Micrognathia, Delayed epiphyseal ossification, Preaxial polydactyly, Knee flexion con... OMIM:210710
Chime Syndrome
Sparse hair, Fine hair, Osteolysis, Acute leukemia ORPHA:3474
Aceruloplasminemia
Ataxia, Anemia OMIM:604290
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Ataxia, Splenomegaly, Micronodular cirrhosis, Truncal ataxia, Aspiration pneumonia,... OMIM:301072
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Ataxia, Micronodular cirrhosis, Abnormal g... ORPHA:98907
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Systemic Lupus Erythematosus
Hemolytic anemia, Alopecia, Raynaud phenomenon, Lymphadenopathy, Leukopenia, Hypertension, Thromb... ORPHA:536
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Nail dystrophy OMIM:615190
Thrombocytopenia 1
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Bruising susceptibility... OMIM:313900
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cho... OMIM:607765
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Neonatal asphyxia, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Ch... ORPHA:440713
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Primary amenorrhea, Hypoplasia of the o... ORPHA:66628
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Pleu... OMIM:249100
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Vasculitis, Craniofacial osteosclerosis, Osteolysis, Hyperostosis, Anemia ORPHA:324964
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Broad-based gait, Elevated circulating aspartate aminotransferase concentration, Hi... OMIM:280000
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Coarse hair, Dense calvaria... OMIM:252930
Methionine Malabsorption Syndrome
Tachypnea, White hair OMIM:250900
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Schinzel-Giedion Syndrome
Respiratory distress, Sacrococcygeal teratoma, Streak ovary, Nephroblastoma, Ependymoma, Annular ... ORPHA:798
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... ORPHA:70587
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Broad-based gait, Abnormality of the spleen, Sple... ORPHA:2072
Kenny-Caffey Syndrome, Type 1
Decreased skull ossification, Congenital hypoparathyroidism, Calvarial osteosclerosis, Anemia OMIM:244460
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Ren... OMIM:260920
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Primary amenorrhea, Hypoplasia of the o... ORPHA:179494
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Tachypnea, Reduced left ventricular ejection fract... OMIM:616501
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hypopigmentation of hair, Osteopetrosis, Hepatomegaly OMIM:618541
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Anemia OMIM:246450
Yellow Fever
Abnormal bleeding, Shock, Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminot... ORPHA:99829
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Osteopetros... OMIM:612301
Rubinstein-Taybi Syndrome 1
Accessory spleen, Respiratory distress, Thick eyebrow, Broad eyebrow, Highly arched eyebrow, Fron... OMIM:180849
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Anemia, Radial dysplasia OMIM:617244
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Tachypnea, Hyperhidrosis, Respiratory failure, Inspiratory stridor, Ventilator dependence with in... OMIM:604320
Camurati-Engelmann Disease
Waddling gait, Hepatomegaly, Ataxia, Splenomegaly, Craniofacial osteosclerosis, Leukopenia, Corti... ORPHA:1328
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Alopecia, Pneumonia, Enlarged polycystic ovaries, Lymphoma, Hirsutism, Biliary ... ORPHA:2298
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... OMIM:602347
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:619183
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Highly arched eyebrow, Inability to walk, Thrombocytopenia, Sacral hypertrichosis, Broad eyebrow ORPHA:457351
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal lymphad... ORPHA:91359
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Broad eyebrow, Neutrophilia, Ataxia, Microcytic anemia, Leukocytosis, Recurrent pne... ORPHA:99843
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Asthma, Cholestasis, Reduced bone mineral density, Portal fibro... OMIM:619377
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Dysmenorrhea, Splenomegaly, Congestive heart failure, Secondary amenorrhea, Primary... ORPHA:79083
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... OMIM:307200
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Portal hypertension, Congestiv... ORPHA:367
Joubert Syndrome 9
Hepatic fibrosis, Apnea, Episodic tachypnea OMIM:612285
Hemochromatosis, Type 5
Anemia, Elevated hepatic iron concentration OMIM:615517
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Thrombocytopenia, Anemia OMIM:619743
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Xerostomia, Hamartomatous polyposis, Hematochezia, Nail dystrophy, Anemia OMIM:175500
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Dyspnea, Congestive heart failure, Myocarditis, Lymphadenopathy, Card... ORPHA:3386
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:619525
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Poland Syndrome
Retinal hamartoma, Cryptorchidism, Acute leukemia, Low posterior hairline, Reduced bone mineral d... ORPHA:2911
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Decreased circulating cortisol level, Decreased liver function, Anemia OMIM:618835
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hypo... OMIM:301500
Goodpasture Syndrome
Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Pulmonary hemorrhage, Cough,... OMIM:233450
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Dysmetria, Athetosis, Cardiomyopathy, Difficulty walking, Thrombocytopenia ORPHA:572798
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Decreased circulating cortisol level, Decreased liver function, Anemia OMIM:618839
Choreoacanthocytosis
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Abno... ORPHA:2388
Joubert Syndrome 3
Central apnea, Ataxia, Episodic tachypnea, Highly arched eyebrow, Neonatal breathing dysregulation OMIM:608629
Takenouchi-Kosaki Syndrome
Ataxia, Increased mean platelet volume, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Sy... OMIM:616737
Hereditary Chronic Pancreatitis
Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Jaundice ORPHA:676
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Re... ORPHA:542323
Alg12-Cdg
Elevated hepatic transaminase, Cryptorchidism, Recurrent pneumonia, Low posterior hairline, Prolo... ORPHA:79324
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... ORPHA:2257
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Tachycardia, Hypertensive crisis, Pulmonary embolism, Leukocytosis... ORPHA:94093
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Respiratory insufficiency, Heart murmur, Anemia, Intracranial... ORPHA:163979
Liver Disease, Severe Congenital
Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymp... OMIM:619991
Galactokinase Deficiency
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Neonatal asphyxia,... ORPHA:79237
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... ORPHA:958
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension, Decreased circulating cortisol level, Anemia OMIM:611489
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, ... OMIM:620040
Vipoma
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Neoplasm of the ... ORPHA:97282
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Splenomegaly, Hepatomegaly OMIM:306000
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... OMIM:276700
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc... OMIM:210720
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Hypochromic microcytic anemia OMIM:619423
Acute Liver Failure
Elevated hepatic transaminase, Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Ataxia, Jau... ORPHA:90062
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenop... ORPHA:91138
Deeah Syndrome
Decreased hemoglobin concentration, Neonatal respiratory distress, Hepatomegaly, Decreased respon... OMIM:619004
Terminal Osseous Dysplasia
Abnormal hand bone ossification, Fibroma, Abnormal foot bone ossification, Abnormal bone structure OMIM:300244
Noonan Syndrome 14
Aortic regurgitation, Curly hair, Sparse eyebrow, Cryptorchidism, Hyperhidrosis, Low posterior ha... OMIM:619745
Leptospirosis
Respiratory distress, Hepatomegaly, Pericarditis, First degree atrioventricular block, Jaundice, ... ORPHA:509
Fish-Eye Disease
Splenomegaly, Angina pectoris, Lymphadenopathy, Hepatomegaly ORPHA:79292
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Low anterior hairline, Limb ataxia, Gait atax... OMIM:248500
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... OMIM:607626
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglo... ORPHA:90041
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Peritonitis, Pleural effusion, Fibrosarcom... ORPHA:314478
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Apnea, Craniosynostosis, Abnormality of hair texture, Splenomegaly, Lymphadenopathy... ORPHA:667
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... OMIM:300106
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Raynaud phenomenon, Spl... OMIM:613471
Anterior Cutaneous Nerve Entrapment Syndrome
Leukocytosis, Hyperhidrosis ORPHA:51890
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Dysmenorrhea, Splenomegaly, Congestive heart failure, Secondary amenorrhea, General... ORPHA:2348
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia ORPHA:3405
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Right ventricular failure, Increased pulmonary vascular resistance, Nonproductive c... ORPHA:60025
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Hypoplastic nipples, Anemia, Nail dystrophy ORPHA:261323
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism... ORPHA:83617
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... ORPHA:2879
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr... OMIM:619418
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... OMIM:233710
Occipital Horn Syndrome
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... ORPHA:198
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... OMIM:306400
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Dyspnea, Splenomegaly, Vacuolated lymphocytes, Cardiomyopathy, Low... ORPHA:565612
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Pleural effusion ORPHA:85414
Cardiomyopathy, Dilated, 2H
Reduced left ventricular ejection fraction, Tachypnea, Cardiorespiratory arrest OMIM:620203
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... OMIM:233690
Camurati-Engelmann Disease
Waddling gait, Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long ... OMIM:131300
Erdheim-Chester Disease
Increased bone mineral density, Ataxia, Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, ... ORPHA:35687
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea OMIM:620085
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Hypertension, Diffuse leiomyomatosis, Thrombocytopenia OMIM:301050
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Ataxi... OMIM:212065
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Chole... OMIM:618641
Wolfram Syndrome
Central apnea, Gastrointestinal hemorrhage, Ataxia, Abnormal mesentery morphology, Respiratory in... ORPHA:3463
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Tachycardia, Intermittent hype... ORPHA:348
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated hepatic transaminase, Decreased liver function, Episodic tachypnea OMIM:615160
Budd-Chiari Syndrome
Elevated hepatic transaminase, Acute hepatic failure, Hepatomegaly, Gastrointestinal hemorrhage, ... ORPHA:131
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Congestive heart failure, Leukocytosis, Lymphopenia ORPHA:247353
Diamond-Blackfan Anemia 10
Respiratory distress, Macrocytic anemia, Reticulocytopenia, Steroid-responsive anemia, Anemia OMIM:613309
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Splenomegaly, Hypogonadism, Lethargy, Alopecia of scalp, Decreased testicul... OMIM:201100
Tangier Disease
Hepatomegaly, Myocardial infarction, Splenomegaly, Nail dystrophy, Left ventricular hypertrophy OMIM:205400
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Mitral stenosis OMIM:231005
Stiff-Person Syndrome
Hypertension, Tachycardia, Anemia, Hyperhidrosis OMIM:184850
Hereditary Orotic Aciduria
Splenomegaly, Anemia ORPHA:30
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:602782
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Hypertensive crisis, Pneumonia, Dyspnea, Leukocytosis, Myocardit... ORPHA:544482
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Nail dystrophy, Anemia, Squamous cell carcinoma OMIM:226600
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Omodysplasia 2
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... OMIM:164745
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Curly hair, Brittle hair, Increased mean platelet volume, Spl... OMIM:222470
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Dilated cardiomyopathy, Anemia OMIM:608068
Cushing Disease
Sparse scalp hair, Purpura, Myocardial infarction, Pituitary corticotropic cell adenoma, Leukocyt... ORPHA:96253
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... OMIM:301074
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Elevated circulating growth ... ORPHA:97283
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Respiratory distress, Respiratory failure requiring assisted venti... ORPHA:95455
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Cogan Syndrome
Aortic regurgitation, Leukocytosis, Vasculitis, Large vessel vasculitis, Thrombocytosis, Anemia ORPHA:1467
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Apnea, Ataxia, Portal hypertension, Abnormal pattern... ORPHA:1454
Nk-Cell Enteropathy
Hematochezia, Increased T cell count, Lymphoproliferative disorder ORPHA:263665
Desmoid Tumor
Gastrointestinal hemorrhage, Osteolysis, Desmoid tumors, Neoplasm of the skin, Fibroma ORPHA:873
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Generalized hirsutism, Sarcoma ORPHA:626
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Cavernous hemangioma, Pulmonic stenosis, Pul... OMIM:616028
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He... OMIM:235555
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... OMIM:232300
Opsismodysplasia
Splenomegaly, Abnormally ossified vertebrae, Respiratory insufficiency, Hepatomegaly ORPHA:2746
Campomelic Dysplasia
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... ORPHA:140
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Splenomegaly, Abnormal ... OMIM:216360
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Bone-marrow foam cells, Hypersplen... ORPHA:275761
Tetanus
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia ORPHA:3299
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Tapered finger OMIM:618367
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure ORPHA:664
Colchicine Poisoning
Respiratory distress, Alopecia, Congestive heart failure, Leukocytosis, Myocarditis, Hypovolemia,... ORPHA:31824
Renal Hypoplasia, Bilateral
Neonatal respiratory distress, Cryptorchidism, Hypertension, Lethargy, Anemia ORPHA:97362
Aspartylglucosaminuria
Hepatomegaly, Vacuolated lymphocytes, Mitral regurgitation, Neutropenia, Macroorchidism OMIM:208400
Cousin Syndrome
Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, Micrognathia, 4-5 toe syndactyly, Humerorad... OMIM:260660
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Dyspnea, Retrograde ejaculation, Rhinitis, Orthostatic syn... ORPHA:230
Pyomyositis
Recurrent cutaneous abscess formation, Leukocytosis, Sudden cardiac death, Testicular teratoma ORPHA:764
Senior-Boichis Syndrome
Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con... ORPHA:84081
Down Syndrome
Hypothyroidism, Myeloproliferative disorder, Acute megakaryocytic leukemia OMIM:190685
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Myelodysplasia, Thrombocytopenia, Cryptorchidism, Red... ORPHA:84
Adams-Oliver Syndrome 6
Splenomegaly, Tricuspid regurgitation, Hepatic fibrosis, Portal hypertension OMIM:616589
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Gastrointestinal hemorrhage, Spi... ORPHA:2137
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Iron deficiency anemia, Abnormality of the liver, ... ORPHA:97214
Urachal Cyst
Abdominal mass, Abscess, Leukocytosis, Peritonitis, Neoplasm ORPHA:488
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Decreased proportion of class-switched memory B cells, Arteritis, Prolonged neonata... OMIM:233600
Sandifer Syndrome
Hematemesis, Anemia ORPHA:71272
8Q24.3 Microdeletion Syndrome
Microretrognathia, Pes planus, Long toe, Congenital hip dislocation, Short femur, Rocker bottom f... ORPHA:508488
Tick-Borne Encephalitis
Elevated hepatic transaminase, Leukopenia, Leukocytosis, Thrombocytopenia ORPHA:297
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Polydactyly ORPHA:17
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Patchy osteosclerosis, Diaphyseal cortical sclerosis, Histiocytoma, Premature graying... OMIM:112250
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C... ORPHA:137675
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... OMIM:208500
Lymphatic Malformation 7
Respiratory distress, Chylothorax, Pleural effusion, Ascites, Anemia OMIM:617300
Fucosidosis
Hepatomegaly, Anhidrosis, Thick eyebrow, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Brui... OMIM:230000
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly, Mitral regurgitation, Pulmonary arterial hypert... OMIM:607015
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Parotitis, Sparse axillary hair, Cardiomegaly, Micro... OMIM:256040
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Cryptorchidism, Hypohidrosis, Hypertension, ... ORPHA:90321
Cocaine Intoxication
Respiratory distress, Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infar... ORPHA:90068
Hennekam Syndrome
Benign neoplasm of the central nervous system, Sparse axillary hair, Craniosynostosis, Splenomega... ORPHA:2136
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Tachycardia, Atrial fibrillat... OMIM:613327
Malt Lymphoma
B-cell lymphoma, Mediastinal lymphadenopathy, Hyperhidrosis, Lymphadenopathy, Anemia ORPHA:52417
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hypertrophic cardi... OMIM:615415
Familial Tumoral Calcinosis
Hepatomegaly, Splenomegaly, Hyperhidrosis, Hyperostosis, Neoplasm of the skin ORPHA:53715
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic endoc... ORPHA:99889
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Hematochezia, Anemia ORPHA:329971
Joubert Syndrome With Oculorenal Defect
Highly arched eyebrow, Tachypnea, Apnea, Ataxia ORPHA:2318
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Dyspnea, Mediastinal lymph... OMIM:181000
Multiple Myeloma
Osteopenia, Splenomegaly, Lymphadenopathy, Pleural effusion, Anemia ORPHA:29073
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Facial capillary hemangioma, Pancreatic cysts, Leukocytosis, Prolonged bleeding fol... OMIM:274000
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Nephroblastoma, Transient neutropenia, Chronic neutropenia, Enlarged kidney ORPHA:500095
Hepatoerythropoietic Porphyria
Abnormal bleeding, Hemolytic anemia, Facial hypertrichosis, Osteopenia, Scarring alopecia of scal... ORPHA:95159
Thauvin-Robinet-Faivre Syndrome
Nephroblastoma, Transient neutropenia OMIM:617107
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardio... ORPHA:555874
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... OMIM:200980
Renal Nutcracker Syndrome
Dyspareunia, Orthostatic hypotension, Tachycardia, Dysmenorrhea, Syncope, Infertility, Anemia ORPHA:71273
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Endometrial carcinoma, Abnormal bleeding, Juvenile colonic polyposis, Desmoid ... ORPHA:157794
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Interstitial emphysema, Bronchiectasis, Dysmetria, Lymphopenia OMIM:619708
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... OMIM:610921
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Tachypnea, Hepatitis, Progressive cerebellar ataxia,... ORPHA:415
Secondary Intestinal Lymphangiectasia
B-cell lymphoma, Right ventricular failure, Lymphoma, Chylous ascites, Intestinal bleeding, Cirrh... ORPHA:90363
Incontinentia Pigmenti
Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Retinal hemorrhage, Fine hair, Coarse... OMIM:308300
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... ORPHA:217563
Joubert Syndrome
Apnea, Episodic tachypnea, Ataxia, Highly arched eyebrow, Gait disturbance, Abnormal pattern of r... ORPHA:475
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Ataxia, Cardiomegaly, Hyperhidrosis, Hepatosplenomegaly, H... OMIM:268800
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Apnea, Supernumerary nipple, Tachypnea, Early ossification of capi... ORPHA:397715
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Tachypnea, Heart murmur, Pulmonic stenosis, Aplasia/Hypoplasia o... ORPHA:3426
Scheie Syndrome
Aortic regurgitation, Splenomegaly, Rhinitis, Hepatomegaly ORPHA:93474
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Dysmenorrhea, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Ac... ORPHA:280365
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Arteriosclerosis, Severe Juvenile
Hypertension, Myocardial infarction, Anemia OMIM:208060
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatomegaly, Portal hypertension, Sagittal craniosynostosis, Pancreatic cysts, Splen... OMIM:610199
Nephronophthisis 11
Hepatic fibrosis, Anemia OMIM:613550
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Ele... OMIM:269700
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... OMIM:300770
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Vasculitis, Lymphadenopathy, Bru... ORPHA:32960
Nephronophthisis 1
Hypertension, Anemia OMIM:256100
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Congestive heart failure,... ORPHA:31826
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Thrombocytosis, Leukocytosis, Hypochromic anemia OMIM:618213
Cholera
Tachycardia, Tachypnea, Hypovolemic shock, Aspiration pneumonia, Hypotension, Lethargy, Hypervent... ORPHA:173
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... ORPHA:139507
Orofaciodigital Syndrome Type 6
Ataxia, Episodic tachypnea, Apnea, Hamartoma of tongue, Bilateral cryptorchidism, Highly arched e... ORPHA:2754
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia ORPHA:1827
Scorpion Envenomation
Bundle branch block, Acute pancreatitis, Tachycardia, Ataxia, Elevated circulating aspartate amin... ORPHA:466677
Serotonin Syndrome
Tachycardia, Tachypnea, Hyperhidrosis, Hypertension, Hypotension, Hepatic failure ORPHA:43116
Nephronophthisis 4
Anemia OMIM:606966
Juvenile Polyposis Syndrome
Hematochezia, Duodenal adenocarcinoma, Anemia OMIM:174900
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Hyperostosis, Hemangioma, Subcutaneous lipoma, Exostoses ORPHA:2969
Cornelia De Lange Syndrome 1
Pneumonia, Curly eyelashes, Highly arched eyebrow, Cryptorchidism, Synophrys, Hirsutism, Low post... OMIM:122470
Dermatomyositis
Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia, Telangie... ORPHA:221
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... OMIM:265120
Liposarcoma
Sarcoma ORPHA:69078
Jacobsen Syndrome
Abnormal eyelash morphology, Cryptorchidism, Annular pancreas, Thrombocytopenia OMIM:147791
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Short femur, Micrognathia, Hypoplastic ilia, Long fingers, Slender long ... OMIM:264090
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Increased bone mineral density, Thickened cortex of long bones, Anemia OMIM:127000
Degcags Syndrome
Osteopenia, Synophrys, Low anterior hairline, Premature graying of hair, Leukopenia, Iron deficie... OMIM:619488
Mucolipidosis Type Ii
Aortic regurgitation, Respiratory failure requiring assisted ventilation, Dry hair, Abnormal atri... ORPHA:576
Roberts Syndrome
Craniosynostosis, Cryptorchidism, Sparse hair, Midface capillary hemangioma, Thrombocytopenia ORPHA:3103
Joubert Syndrome 1
Central apnea, Ataxia, Episodic tachypnea, Highly arched eyebrow, Hepatic fibrosis, Neonatal brea... OMIM:213300
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Synophrys, Bone cyst, Osteolysis, Hypogonadism, Gait disturbance, Anemia ORPHA:3042
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Hypertension, Per... OMIM:263200
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Gastrointestinal hemorrhage, Jaun... ORPHA:247598
Pyruvate Carboxylase Deficiency
Hepatomegaly, Ataxia, Tachypnea, Tip-toe gait, Abnormal pattern of respiration ORPHA:3008
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Ataxia, Akinesia, Inability t... ORPHA:86309
Microsporidiosis
Brain abscess, Sinusitis, Cholangitis, Pneumonia, Abnormality of the spleen, Peritonitis, Lymphad... ORPHA:2552
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... ORPHA:247806
Sotos Syndrome
Sacrococcygeal teratoma, Astrocytoma, Craniosynostosis, Small cell lung carcinoma, Cryptorchidism... ORPHA:821
Sponastrime Dysplasia
Delayed epiphyseal ossification, Recurrent pneumonia, Ivory epiphyses of the phalanges of the han... ORPHA:93357
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly ORPHA:33577
Gardner Syndrome
Neoplasm of the pancreas, Astrocytoma, Brain neoplasm, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Congenital hypoparathyroidism, Decreased skull ossifi... ORPHA:93325
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Highly arched eyebrow, Increased mean platelet volume, Sparse eyebrow, Synophrys, Abnormality of ... ORPHA:487796
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Waddling gait, Cavernous hemangioma of the face, Recurrent pneumonia, Caver... ORPHA:99646
Cystic Fibrosis
Male infertility, Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vi... OMIM:219700
Leukocyte Adhesion Deficiency, Type I
Leukocytosis, Rectal abscess OMIM:116920
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hamartomatous polyposis, Hematoch... OMIM:175050
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Oculocerebrorenal Syndrome Of Lowe
Benign neoplasm of the central nervous system, Sparse scalp hair, Hyperparathyroidism, Osteomalac... ORPHA:534
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy, Jaundice, Tachypnea OMIM:615751
Hydrolethalus Syndrome 1
Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha... OMIM:236680
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Jaundice, Anemia of inadequate production, Congenital hypoplastic anemia OMIM:105600
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Hypoparathyroidism, Hypertensive crisis, Hyperthyroidism, Abnormalit... ORPHA:567
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Lipoma, Splenomegaly, Nephroblastoma, Cranial hyperostosis OMIM:612918
Digeorge Syndrome
Splenomegaly, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Hypothyroidism, Anemia,... OMIM:188400
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Ataxia, Splenomegaly, Hypohi... ORPHA:163746
Cowden Syndrome
Neoplasm of the central nervous system, Hamartomatous polyposis, Neoplasm, Papilloma, Conjunctiva... ORPHA:201
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Familial Adenomatous Polyposis
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Jacobsen Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the eyebrow, Aortic valve stenosis, Bone marrow hypocellula... ORPHA:2308
Kawasaki Disease
Pericarditis, Abnormality of nail color, Congestive heart failure, Cervical lymphadenopathy, Leuk... ORPHA:2331
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Cardiomegaly, Tachypnea, Abnormal heart valve physiology, Hypo... ORPHA:3384
Japanese Encephalitis
Respiratory distress, Neutrophilia, Choreoathetosis, Respiratory paralysis, Abnormal pattern of r... ORPHA:79139
Isotretinoin-Like Syndrome
Aortic valve stenosis, Lymphopenia ORPHA:2306
Osteogenesis Imperfecta
Aortic regurgitation, Osteopenia, Neonatal respiratory distress, Ataxia, Cerebral hemorrhage, Vis... ORPHA:666
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Hepatic fibrosis, Polysplenia, Ascites, Enla... OMIM:200995
Aortic Arch Interruption
Respiratory distress, Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substa... ORPHA:2299
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Dec... OMIM:608594
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Short femur, Camptodactyly of finger, Hypoplastic ilia, Long fingers, 2-... ORPHA:3455
Joubert Syndrome 2
Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608091
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Dyspnea, Splenomegaly, Xerostomia, Large vessel va... ORPHA:90340
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Niemann-Pick Disease Type C
Hepatomegaly, Ataxia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Respiratory ... ORPHA:646
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Hypercapnia, High-output congestive heart failure, Tachypnea, Ventricular ... ORPHA:423
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Tuberous Sclerosis 2
Wolff-Parkinson-White syndrome, Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymo... OMIM:613254
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Xerostomia, Thyroiditis, Lymphadenopathy, Thrombocytopenia ORPHA:79078
Senior-Loken Syndrome 1
Anemia OMIM:266900
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Brain abscess, Juvenile gastrointestinal polyposis, Spontaneous, recurr... ORPHA:2929
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... OMIM:304120
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Leukocytosis, Hypoplasia of the ovary, Hepatic steatosis, Decreased testicular size OMIM:619321
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Tricuspid regurgitation, Elevated hemogl... OMIM:619127
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ataxia, Highly arched eyebrow, Microvesicular hepatic steatosis, Tachypnea, Low anterior hairline... OMIM:220111
Ectodermal Dysplasia And Immunodeficiency 2
Anhidrosis, Hepatomegaly, Sparse scalp hair, Splenomegaly, Hypohidrosis, Aplasia of the sweat gla... OMIM:612132
Meige Disease
Angiosarcoma, Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center ORPHA:90186
Tuberous Sclerosis Complex
Respiratory distress, Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocyt... ORPHA:805
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Tachypnea, Hypertension, Cryptorchidism OMIM:613834
Hyperlipoproteinemia, Type Id
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly OMIM:615947
Milroy Disease
Angiosarcoma, Hydrocele testis, Neoplasm of the skin ORPHA:79452
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cel... ORPHA:276152
Joubert Syndrome 21
Apnea, Ataxia, Dyspnea, Splenomegaly, Respiratory failure, Chronic sinusitis OMIM:615636
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Shortened QT interval, Fibroma, ... ORPHA:99880
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Lower limb dysmetria, Schwannoma, Bone cyst, Ossifying fibroma, Hypertrophic cardiomyo... ORPHA:363700
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Bifid femur, Aplasia/hypoplasia of the femur, Clinodactyly of th... ORPHA:2769
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Shortened QT interval, Fibroma, ... ORPHA:143
Double Outlet Left Ventricle
Cardiomegaly, Cryptorchidism, Tachypnea, Abnormal right ventricular function, Systolic heart murmur ORPHA:3427
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Brachydactyly, Abnormal distal phalanx morphology of finger, Micromelia, Micrognathia, Aplastic c... ORPHA:2636
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph... ORPHA:1018
Lymphedema-Distichiasis Syndrome
Fibrosarcoma, Distichiasis, Arrhythmia ORPHA:33001
Basal Cell Nevus Syndrome 2
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma OMIM:620343
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short... OMIM:218330
Orofaciodigital Syndrome Type 4
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... ORPHA:2753
Plague
Respiratory distress, Hepatomegaly, Abnormal bleeding, Tachycardia, Hematemesis, Splenomegaly, Ly... ORPHA:707
Kinsship Syndrome
Pes planus, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyly, Mesomelia... OMIM:619297
Joubert Syndrome 5
Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation OMIM:610188
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopathia striata, Fibular hypoplasia... OMIM:300373
Aicardi Syndrome
Recurrent pneumonia, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemang... OMIM:304050
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo... OMIM:214800
Attenuated Familial Adenomatous Polyposis
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma ORPHA:220460
Alström Syndrome
Respiratory distress, Decreased response to growth hormone stimulation test, Hypoplasia of the Le... ORPHA:64

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 Arid4a

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 Arid4a.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Arid4atm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Arid4atm1a(EUCOMM)Wtsi PMC6459510

Order Mouse and ES Cells

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
Arid4atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Arid4atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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