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Gene: Arid4a MGI:2444354

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Gene Summary

Name:
AT rich interactive domain 4A (RBP1-like)
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

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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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
Hypoplastic pelvis, Short femur OMIM:619545
Coxa Vara
Coxa vara OMIM:122750
Upington Disease
Broad femoral neck, Premature epimetaphyseal fusion, Flat capital femoral epiphysis, Arthralgia o... ORPHA:3408
Blount Disease, Infantile
Genu varum, Abnormality of the proximal tibial epiphysis OMIM:188700
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Wide distal femoral metaphysis, Rhizomelia, Hip dysplasia, Short femur, Hypop... OMIM:619598
Upington Disease
Flattened femoral head, Broad femoral neck, Arthralgia of the hip OMIM:191520
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short humerus, Rhizomelia, Short femur OMIM:600121
Essential Thrombocythemia
Abnormality of thrombocytes, Myelodysplasia, Transient ischemic attack, Increased megakaryocyte c... ORPHA:3318
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Acute myelomonocytic leukemia, Abnormal megakaryocyte morphology, Lymphoc... ORPHA:86843
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Myelodysplasia, Bone marrow hypocellularity, Hepatomegaly, Hypochromic an... ORPHA:75564
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopeni... OMIM:614470
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, My... OMIM:614172
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Myelofibrosis, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis,... OMIM:301078
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Granulocytic hypoplasia, Steroid-responsive anemia OMIM:618310
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing OMIM:246570
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Bone m... OMIM:231095
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Refractory anemia with ringe... OMIM:133180
Acromesomelic Dysplasia 2C
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... OMIM:201250
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology OMIM:259270
Immunodeficiency 32B
Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Sinusitis, Eosinophilia, Hepatomegaly, Impai... OMIM:226990
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormal megakaryocyte morphology, Abnormality of neutrophil ... ORPHA:86841
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Myelodysplasia, Abnormal bleeding, Bruising susceptibility, HbH hemoglobin, Dyspnea,... ORPHA:231401
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Anisopoikilocytosis, Myelofibrosis, Thrombocytopenia, Splenomegaly OMIM:617441
Gray Platelet Syndrome
Abnormal number of alpha granules, Abnormal bleeding, Bruising susceptibility, Myelofibrosis, Epi... OMIM:139090
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Abnormal pelvic girdle bone morphology, Osteopathia striata... ORPHA:2779
Thrombocytopenia 2
Bruising susceptibility, Thrombocytopenia, Increased megakaryocyte colony forming unit count, Leu... OMIM:188000
Dysplasia Of Head Of Femur, Meyer Type
Antalgic gait, Delayed femoral head ossification, Enlarged tonsils, Leukocytosis, Multicentric fe... ORPHA:168621
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, S... OMIM:118651
Primary Myelofibrosis
Hepatosplenomegaly, Hepatomegaly, Hematological neoplasm, Thrombocytopenia, Splenomegaly, Purpura... ORPHA:824
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... OMIM:200700
Leukocyte Adhesion Deficiency, Type Iii
Abnormality of thrombocytes, Abnormal lymph node morphology, Anemia, Petechiae, Abnormal bleeding... OMIM:612840
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Fanconi Anemia, Complementation Group G
Anemia, Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia OMIM:614082
Coxopodopatellar Syndrome
Abnormality of the knee, Hip dysplasia, Abnormal pelvic girdle bone morphology, Abnormal epiphysi... ORPHA:1509
Metaphyseal Anadysplasia 2
Genu varum, Metaphyseal irregularity, Short femoral neck, Bowing of the legs, Micromelia, Metaphy... OMIM:613073
Bleeding Disorder, Platelet-Type, 17
Petechiae, Impaired epinephrine-induced platelet aggregation, Abnormal bleeding, Bruising suscept... OMIM:187900
Refractory Anemia
Abnormal cardiac ventricular function, Neutropenia, Myelodysplasia, Normocytic anemia, Single lin... ORPHA:98826
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Genu valgum, Coxa valga, Hip dysplasia, Acetabular dysplasia, Talipes equinovarus OMIM:613618
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Myelodysplasia, Acute lymphoblastic leukemia, Hepatocellular carcinoma, E... ORPHA:158057
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Radial bowing, Micrognathi... OMIM:249700
Mesomelic Dysplasia, Savarirayan Type
Short tibia, Abnormal foot morphology, Hip dislocation, Dislocated radial head, Talipes equinoval... OMIM:605274
Trimethylaminuria
Anemia, Hypertension, Tachycardia, Recurrent pneumonia, Neutropenia, Splenomegaly OMIM:602079
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar hypoplasia, Patellar aplasia, Coxa vara, Patellar dislocation, Micrognathia, Flat capita... OMIM:147891
Blount Disease
Abnormal tibial metaphysis morphology, Abnormality of the knee, Abnormality of the proximal tibia... ORPHA:2768
Polycythemia Vera
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Incr... OMIM:263300
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Polycythemia Vera
Respiratory insufficiency, Pulmonary embolism, Myelodysplasia, Intermittent claudication, Angina ... ORPHA:729
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Lymphoma, Leukopenia, Acute myeloid leukemia, Myelodysplasia, Asthma, Bone marrow hypocellularity... OMIM:616871
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Thrombocytopenia 6
Spontaneous, recurrent epistaxis, Abnormal bleeding, Myelofibrosis, Bone marrow hypercellularity,... OMIM:616937
Beukes Hip Dysplasia
Broad femoral neck, Avascular necrosis of the capital femoral epiphysis, Hip dysplasia, Flat capi... OMIM:142669
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Ataxia, Dysmetria, Unsteady gait, Thrombocyt... OMIM:159550
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Broad femoral neck, Genu valgum, Flat distal femoral epiphysis, Short femoral neck, Coxa vara, Ep... OMIM:609324
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Abnormal platelet function, Gait d... ORPHA:2585
Adult Idiopathic Neutropenia
Monocytopenia, Granulocytic hypoplasia, Lymphopenia, Bone marrow hypercellularity, Abnormal neutr... ORPHA:2688
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Myeloproliferative disorder, Hepatomegaly, Eosinophilia, Splenomegaly OMIM:607685
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Anemia, Myeloid leukemia, Cirrhosis, Premature graying of hair, Myelodysplasia, Pancytopenia, Cra... OMIM:614742
Neutropenia, Severe Congenital, X-Linked
Bone marrow arrest at the promyelocytic stage, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Myelodysplasia, Pancytopenia, Bone marrow hypocellularity, Increa... OMIM:619041
Acheiropody
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... OMIM:200500
Beta-Thalassemia Intermedia
Hypothyroidism, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyr... ORPHA:231222
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Congenital alopecia totalis, T lymphocytopenia ORPHA:169095
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Myelofibrosis
Purpura, Splenomegaly, Myelofibrosis, Myeloproliferative disorder OMIM:254450
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia, Abnormal bleeding OMIM:188030
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Idiopathic Hypereosinophilic Syndrome
Myelodysplasia, Supraventricular arrhythmia, Elevated hepatic transaminase, Generalized lymphaden... ORPHA:3260
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma, Monoclonal immunoglobulin M... OMIM:153600
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Lymphopenia, Verrucae OMIM:614868
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... OMIM:603552
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time, L... ORPHA:3226
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Abnormal megakaryocyte morphology, Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombo... ORPHA:67044
Aggressive Systemic Mastocytosis
Hypotension, Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Osteolysis, Osteoporosis, L... ORPHA:98850
Whim Syndrome 2
Chronic neutropenia, Myelokathexis OMIM:619407
Castleman Disease
Anemia, Restrictive cardiomyopathy, Jaundice, Generalized lymphadenopathy, Myelofibrosis, Decreas... ORPHA:160
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... OMIM:601376
Lethal Faciocardiomelic Dysplasia
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... ORPHA:1972
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Epiphyseal Dysplasia, Multiple, 5
Broad femoral neck, Metaphyseal irregularity, Genu valgum, Coxa vara, Short metacarpal, Short fem... OMIM:607078
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly, Granulocytic hyperplasia, Myelodysplasia OMIM:162830
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Epiphyseal Dysplasia, Multiple, 7
Genu varum, Advanced ossification of carpal bones, Short femoral neck, Flat acetabular roof, Epip... OMIM:617719
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia, Bone marrow maturation arrest OMIM:616022
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Acute myeloid leukemia, Chronic myelomonocytic leukemia, Myelodysplasia, Eosinophili... ORPHA:98849
Folate Malabsorption, Hereditary
Leukopenia, Neutropenia, Ataxia, Thrombocytopenia, Athetosis, Folate-responsive megaloblastic anemia OMIM:229050
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... OMIM:127300
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Ataxia ORPHA:2802
Dyschondrosteosis And Nephritis
Short tibia, Radial bowing, Ulnar bowing, Short forearm OMIM:127350
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Neutropenia ORPHA:90023
Laurin-Sandrow Syndrome
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... OMIM:135750
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Choreoathetosis, Pancreatitis, Respiratory distress, Hepatomegaly, Lethargy, Thrombocytop... ORPHA:79312
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... ORPHA:240
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Tibial Hemimelia
Absent tibia OMIM:275220
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... OMIM:615897
Primary Familial Polycythemia
Exertional dyspnea, Abnormal bleeding, Polycythemia, Epistaxis, Dyspnea, Cough, Abnormal hemoglobin ORPHA:90042
Generalized Eruptive Histiocytosis
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia ORPHA:157991
Hemochromatosis, Type 3
Anemia, Cirrhosis, Impotence, Elevated hepatic transaminase, Purpura, Lymphopenia, Hypogonadotrop... OMIM:604250
Acute Myelomonocytic Leukemia
Anemia, Abnormal bleeding, Dyspnea, Leukocytosis, Eosinophilia, Thrombocytopenia ORPHA:517
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly OMIM:228250
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... ORPHA:988
Glioma Susceptibility 9
Astrocytoma, Renal neoplasm, Glioma, Leukemia, Neoplasm of the lung OMIM:616568
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegal... OMIM:615234
Erythrocytosis, Familial, 1
Increased red blood cell mass, Exertional dyspnea, Cerebral hemorrhage, Increased hematocrit, Hyp... OMIM:133100
Eosinophilia, Familial
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia OMIM:131400
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Rhinitis, Myelodysplasia, Acute lymphoblastic leukemia, Lymphopenia, Hema... ORPHA:486
Slc35A1-Cdg
Pulmonary hemorrhage, Abnormal megakaryocyte morphology, Subcutaneous hemorrhage, Abnormal bleedi... ORPHA:238459
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Retinal hemorrhage, Exertional dyspnea, Single lineage myelodysplasia, Ab... ORPHA:86839
Wt Limb-Blood Syndrome
Thrombocytopenia, Leukemia, Pancytopenia, Hypoplastic anemia OMIM:194350
Gray Platelet Syndrome
Abnormality of thrombocytes, Myelodysplasia, Abnormal bleeding, Abnormality of the menstrual cycl... ORPHA:721
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Decreased CD4:CD8 ratio, Myelodysplasia, Pancytopenia, Leukemia, Verrucae OMIM:614038
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Abnormal bleeding, Thrombocytopenia, Abnormal hemoglobin, Spl... ORPHA:231393
Rhabdoid Tumor
Respiratory insufficiency, Anemia, Neoplasm of the central nervous system, Sarcoma, Neoplasm of t... ORPHA:69077
Myeloproliferative Disorder, Chronic, With Eosinophilia
Malignant eosinophil proliferation, Eosinophilia, Myeloproliferative disorder OMIM:131440
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Dyspnea, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, ... OMIM:607616
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Acute myeloid leukemia, Myelofibrosis, Chronic myelomonocytic leukemia OMIM:616604
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Choreoathetosis, Respiratory distress, Hepatomegaly, Lethargy, Thrombocytopenia, Neutrope... ORPHA:289916
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification ORPHA:3319
Glutathione Synthetase Deficiency
Neutropenia, Hemolytic anemia, Ataxia OMIM:266130
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Short femoral neck, Coxa vara, Corner fracture of metaphysi... OMIM:184255
Mesomelic Dysplasia, Savarirayan Type
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... ORPHA:85170
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Anemia, Myelodysplasia, Bone marrow hypocellularity, Thromboc... OMIM:619151
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Abnormal bone structure, Hepatomegaly, Splenomegaly ORPHA:46532
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Short lower limbs, Femoral bowing, Flared metaphysis, Flatt... ORPHA:93356
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Epiphyseal Dysplasia, Multiple, 4
Short metacarpal, Double-layered patella, Hip dysplasia, Flat capital femoral epiphysis, Epiphyse... OMIM:226900
Osteopetrosis, Autosomal Recessive 2
Anemia, Osteopetrosis, Pancytopenia, Hepatosplenomegaly, Decreased osteoclast count, Diaphyseal s... OMIM:259710
Ollier Disease
Anemia, Chondrosarcoma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Hemangioma, Os... ORPHA:296
Immunodeficiency 104
T lymphocytopenia, Lymphadenopathy, Hepatomegaly, Pneumonia, Splenomegaly OMIM:608971
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Anemia, Exertional dyspnea, Lymphocytosis, Cervical lymphadenopathy, Bone... ORPHA:514
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Gait disturbance, Splenomegaly, Ataxia, Hepatomegaly ORPHA:2274
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia, Bruising susceptibility OMIM:614200
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... ORPHA:3202
Bone Marrow Failure Syndrome 6
Hypothyroidism, Anemia, Recurrent sinusitis, Lymphopenia, Persistence of hemoglobin F, Squamous c... OMIM:618849
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Abnormality of the liver, Hepatomegaly, Subcutaneous hemorrhage ORPHA:1980
Lymphoproliferative Syndrome, X-Linked, 1
Lymphoma, Hepatic failure, Burkitt lymphoma, Fulminant hepatitis, Lymphocytosis, Pancytopenia, Ly... OMIM:308240
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Splenome... OMIM:619164
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Bronchiectasis, Recurrent pneumonia, Lymphadenopathy, Abnormal CD4:CD8 ratio, ... OMIM:150550
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Refractory anemia with ringed sideroblasts, Hypochromic microcytic an... OMIM:619523
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Pancyt... OMIM:619824
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:616435
Acute Promyelocytic Leukemia
Leukopenia, Anemia, Exertional dyspnea, Petechiae, Productive cough, Purpura, Abnormal bleeding, ... ORPHA:520
Specific Granule Deficiency 2
Anemia, Bone marrow maturation arrest, Myelodysplasia, Absent neutrophil specific granules, Recur... OMIM:617475
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... OMIM:619217
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Bronchiectasis, Coombs-positive hemolytic anemia, De... OMIM:617514
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Cirrhosis, Myeloid leukemia, Premature graying of hair, Pancytopenia, Bone marrow hypocellularity... OMIM:614743
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Myelodysplasia, Bone marrow hypocellularity, Leukocytosis, Multiple linea... ORPHA:98827
Propionic Acidemia
Cerebellar hemorrhage, Anemia, Neutropenia, Pancytopenia, Tachypnea, Apnea, Osteoporosis, Hepatom... OMIM:606054
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cel... OMIM:613673
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Myelodysplasia, Increased mean corpuscular volume OMIM:252270
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Megaloblastic bone marrow, Thrombocytopenia, Neutropenia ORPHA:859
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Broad femoral neck, Patellar hypoplasia, Short femoral neck, Epiphyseal dysplasia, Ir... OMIM:609325
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Jaund... OMIM:616689
Bleeding Disorder, Platelet-Type, 19
Anemia, Abnormal bleeding, Macrothrombocytopenia, Epistaxis, Menorrhagia, Thrombocytopenia, Spont... OMIM:616176
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolyti... ORPHA:822
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Metaphyseal striations, ... OMIM:250460
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, Nodular regenerative hyperplasia of liver,... OMIM:301082
Whim Syndrome 1
Verrucae, Bronchiectasis, Myelokathexis, Bone marrow hypercellularity, Neutropenia, Abnormality o... OMIM:193670
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Preeclampsia/Eclampsia 1
Thrombocytopenia, Elevated hepatic transaminase, Hypertension OMIM:189800
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... OMIM:300835
Babesiosis
Respiratory insufficiency, Leukopenia, Hepatic failure, Hyperhidrosis, Hemolytic anemia, Jaundice... ORPHA:108
Sea-Blue Histiocyte Disease
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E... OMIM:269600
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Osteopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:610539
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis OMIM:603529
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Bruising susceptibility, Poikilocytosis, Epistaxis, Congenital thrombocytopenia, Anemi... OMIM:300367
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... OMIM:224120
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Neutropenia, Acute lymphoblastic leukemia, Myelodysplasia OMIM:610738
Bone Marrow Failure Syndrome 2
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:615715
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Mu-Heavy Chain Disease
Anemia, Splenomegaly, Abnormal B cell count, Osteolysis, Lymphadenopathy, Hepatomegaly, Osteoporo... ORPHA:100024
Thrombocytopenia 5
Anemia, Petechiae, Bruising susceptibility, Epistaxis, Thrombocytopenia, Neutropenia OMIM:616216
Poems Syndrome
Hypothyroidism, Leukonychia, Sclerosis of foot bone, Primary adrenal insufficiency, Pleural effus... ORPHA:2905
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired epinephrine-induced platel... OMIM:155100
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Beta-Thalassemia Major
Hypothyroidism, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyr... ORPHA:231214
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Pleural effusion, Autoimmune hemol... OMIM:613011
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Loss of ambulation, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:615010
Malaria
Anemia, Thrombocytopenia, Gait imbalance, Respiratory distress ORPHA:673
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anis... OMIM:300908
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Neonatal Lupus Erythematosus
Anemia, Hepatic failure, Abnormality of the liver, Neutropenia, Hemolytic anemia, Elevated hepati... ORPHA:398124
Staphylococcal Necrotizing Pneumonia
Hypotension, Leukopenia, Pneumothorax, Pleural empyema, Neutrophilia, Hypoxemia, Respiratory dist... ORPHA:36238
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Short femoral neck, Coxa vara, Rhizomelia, Flared iliac wing, Proximal femoral metaph... OMIM:183849
Felty Syndrome
Lymphoma, Anemia, Rhinitis, Pericarditis, Osteolysis, Recurrent pneumonia, Lymphadenopathy, Sinus... ORPHA:47612
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Mast Cell Sarcoma
Sarcoma, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Dominant Beta-Thalassemia
Hypothyroidism, Adrenal insufficiency, Extramedullary hematopoiesis, Hepatocellular carcinoma, He... ORPHA:231226
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Neutropenia, Absent circulating B cells OMIM:613501
Sickle Cell Disease
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Priapism, Splenic infarction, Jaund... OMIM:603903
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Acute Erythroid Leukemia
Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypercellularity, Bone marrow... ORPHA:318
Li-Fraumeni Syndrome
Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s... ORPHA:524
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Lymphoma, Acute myeloid leukemia, Abnormal alpha granule content, Myelodysplasia, Bruising suscep... OMIM:601399
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... OMIM:113310
Amegakaryocytic Thrombocytopenia, Congenital
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia, Megakaryocytopenia OMIM:604498
Vitamin B12-Unresponsive Methylmalonic Acidemia
Respiratory insufficiency, Leukopenia, Anemia, Choreoathetosis, Ataxia, Macrocytic anemia, Hepato... ORPHA:27
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Facial papilloma, Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Autoimmun... OMIM:619220
Griscelli Syndrome Type 2
Petechiae, Premature graying of hair, Jaundice, Pancytopenia, Hypopigmentation of hair, Lymphaden... ORPHA:79477
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Nail dystrophy, Pneumonia, T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Hypertension OMIM:166990
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Bronchiectasis, Increased proportion of transitional B cells, Lymphadenopathy,... OMIM:615513
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Abnormal bleeding, Erythroid hypo... ORPHA:101096
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Leishmaniasis
Leukopenia, Anemia, Rhinitis, Abnormal macrophage morphology, Elevated hepatic transaminase, Abno... ORPHA:507
Tempi Syndrome
Telangiectasia, Increased hematocrit, Hypoxemia, Intracranial hemorrhage, Polycythemia, Hemangiom... ORPHA:284227
Beta-Thalassemia
Respiratory insufficiency, Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelit... ORPHA:848
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Bron... OMIM:616005
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Coxa valga, Short greater sciatic notch OMIM:271620
Diffuse Cutaneous Mastocytosis
Hypotension, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly, Myeloprolife... ORPHA:79456
Hypermanganesemia With Dystonia 1
Cirrhosis, Elevated hepatic transaminase, Polycythemia, Steppage gait, Hepatomegaly, Decreased li... OMIM:613280
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Wiskott-Aldrich Syndrome
Sudden cardiac death, Hypoplasia of the thymus, Neoplasm, Prolonged bleeding time, Hematemesis, T... ORPHA:906
Ghosal Hematodiaphyseal Dysplasia
Abnormal pelvic girdle bone morphology, Abnormality of tibia morphology, Abnormality of femur mor... ORPHA:1802
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Osteopetrosis, Autosomal Recessive 5
Anemia, Hepatic failure, Respiratory failure, Osteopetrosis, Increased bone mineral density, Panc... OMIM:259720
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
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
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Patchy alopecia, N... OMIM:615387
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Dumbbell-shaped long bone, Rhizomelia, Micrognathia, Micromelia, Short femur, Femoral bowing, Bra... ORPHA:440354
Acheiropodia
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... ORPHA:931
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Exertional dyspnea OMIM:250800
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... OMIM:153670
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Lymphoma, T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia OMIM:247640
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Anisopoikilocytosis, Abnormal bleeding, Abnormal hemoglobin concentration, ... ORPHA:35858
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreas... ORPHA:169154
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... OMIM:612576
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly OMIM:618963
Mastocytosis
Hypotension, Respiratory insufficiency, Asthma, Sarcoma, Telangiectasia of the skin, Mastocytosis... ORPHA:98292
N Syndrome
Neoplasm, Leukemia OMIM:310465
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Primary Erythromelalgia
Abnormality of thrombocytes, Leukemia, Vasculitis ORPHA:90026
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Irregular ossification at anterior rib ends, Myelodysplasia, Elev... OMIM:260400
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Nail dystrophy, T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency 84
B-cell lymphoma, Splenomegaly, B lymphocytopenia, Perianal abscess OMIM:619437
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... OMIM:119100
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia OMIM:598500
Kasabach-Merritt Syndrome
Leukopenia, Anemia, Hyperhidrosis, Petechiae, Microangiopathic hemolytic anemia, Tufted angioma, ... ORPHA:2330
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoma, Decreased CD4:CD8 ratio, Bronchiectasis, Recurrent sinusitis, Decreased proportion of C... OMIM:300853
Chediak-Higashi Syndrome
Leukopenia, Anemia, Spontaneous, recurrent epistaxis, Jaundice, Gait disturbance, Ataxia, Bruisin... OMIM:214500
Forsythe-Wakeling Syndrome
Thrombocytopenia, Osteoporosis OMIM:613606
Waldenström Macroglobulinemia
Lymphoma, Retinal hemorrhage, Respiratory insufficiency, Leukemia, Normocytic anemia, Purpura, Co... ORPHA:33226
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Thrombocytopenia, Osteopetrosis, Splenomegaly OMIM:615085
Erythrocytosis, Familial, 4
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:611783
Systemic Lupus Erythematosus 17
Leukopenia, Alopecia, Raynaud phenomenon, Lymphopenia, Autoimmune thrombocytopenia, Hypertensive ... OMIM:301080
Osteopetrosis, Autosomal Recessive 4
Anemia, Petechiae, Increased bone mineral density, Reticulocytosis, Hepatomegaly, Thrombocytopeni... OMIM:611490
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory insufficiency, Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular nec... OMIM:618278
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Leukopenia, Neutropenia, Respiratory distress, Hepatomegaly, Thrombocytope... OMIM:251000
Eiken Syndrome
Short phalanx of finger, Short toe, Metaphyseal irregularity, Broad foot, Abnormal fingertip morp... ORPHA:79106
Schnitzler Syndrome
Lymphoma, Anemia, Increased bone mineral density, Lymphadenopathy, Leukocytosis, Hepatomegaly, Sp... ORPHA:37748
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Post-partum hemorrhage, Elevated hepatic transaminase, Poikilocytosis, Abnormal erythrocy... ORPHA:98870
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Recurrent sinusitis, Recurrent pneumonia, Thrombocytosis, Leukoc... OMIM:619281
Idiopathic Aplastic Anemia
Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Ecchymosis, Epistaxis, Gingival blee... ORPHA:88
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Petechiae, Reticulocytosis, Bruising susceptibility, Epistaxis, I... OMIM:314050
Non-Involuting Congenital Hemangioma
Tufted angioma, Congestive heart failure, Midfrontal capillary hemangioma, Hemangioma, Perineal h... ORPHA:141179
Hereditary Elliptocytosis
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaundice, Reticulo... ORPHA:288
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Anemia, Dysplastic erythropoesis, Reticulocytopenia, Hypogonadism, Adrenal insuff... ORPHA:300298
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume OMIM:620044
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Dyspnea, Hemolytic anemia ORPHA:228312
Fetal Parvovirus Syndrome
Ascites, Anemia, Thrombocytopenia, Hypertrophic cardiomyopathy ORPHA:295
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Split hand ORPHA:1118
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly OMIM:610329
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Syndactyly OMIM:300484
Lig4 Syndrome
Lymphoma, Hypothyroidism, Telangiectasia of the skin, Pancytopenia, Lymphadenopathy, Leukocytosis... ORPHA:99812
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Recurrent sinusitis, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytope... OMIM:613101
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Neutropenia, Thrombocytopenia, Lethargy, Normochromic anemia, Ta... OMIM:614857
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Increased red blood cell mass, Cerebral hemorrhage,... OMIM:263400
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Dohle Bodies And Leukemia
Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia OMIM:223350
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... ORPHA:3203
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Elevated circulating alanine aminotransferase concent... ORPHA:158061
Immunodeficiency 95
Respiratory failure, Respiratory distress, Lymphopenia, Recurrent viral pneumonia OMIM:619773
Immunodeficiency 91 And Hyperinflammation
Pulmonary hemorrhage, Neutrophilia, Elevated hepatic transaminase, Hepatosplenomegaly, Pleural ef... OMIM:619644
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Ataxia, Arrhythmia OMIM:616949
Rh Deficiency Syndrome
Stomatocytosis, Hemolytic anemia, Jaundice, Hypoxemia, Reticulocytosis, Hepatosplenomegaly, Tachy... ORPHA:71275
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... ORPHA:2756
Tufted Angioma
Hyperhidrosis, Anemia, Petechiae, Hemangioma of the lip, Purpura, Neoplasm of the skin, Facial he... ORPHA:1063
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Alpha-Heavy Chain Disease
Lymphoma, Alopecia, Anemia, Premature ovarian insufficiency, Lymphadenopathy, Hepatomegaly, Ascit... ORPHA:100025
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Neutropenia, Chronic sinusitis OMIM:613502
Aicardi-Goutieres Syndrome 4
Respiratory insufficiency, Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, Hepat... OMIM:610333
Congenital Enterovirus Infection
Hypotension, Leukopenia, Anemia, Hepatic failure, Myocarditis, Abnormal macrophage morphology, He... ORPHA:292
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Cirrhosis, Alopecia, Squamous cell carcinoma of the skin, Premature graying o... OMIM:127550
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Post-partum hemorrhage, Impaired ADP-indu... OMIM:619130
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Metaphyseal irregularity, Genu valgum, Metaphyseal sclerosis, Proximal femoral metaph... OMIM:156500
Acromesomelic Dysplasia 2B
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Short metacarpal, Patellar ... OMIM:228900
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia, Kaposi's sarcoma OMIM:615593
Weismann-Netter Syndrome
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... ORPHA:3344
Immunodeficiency 19
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology OMIM:615617
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Avian Influenza
Leukopenia, Pneumothorax, Productive cough, Hepatitis, Elevated hepatic transaminase, Congestive ... ORPHA:454836
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme OMIM:619096
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Hip dysplasia, Preaxial foot polydactyly, Micrognathi... ORPHA:1988
Congenital Factor Xiii Deficiency
Hepatic failure, Myeloid leukemia, Cerebral hemorrhage, Subcutaneous hemorrhage, Post-partum hemo... ORPHA:331
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Gamma-Heavy Chain Disease
Neoplasm of the tongue, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Osteoly... ORPHA:100026
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Subcutaneous hemorrhage, Ataxia, Macrot... OMIM:603585
Congenital Bile Acid Synthesis Defect Type 2
Hepatic failure, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Rickets, Giant cell ... ORPHA:79303
Rapidly Involuting Congenital Hemangioma
Tufted angioma, Congestive heart failure, Midfrontal capillary hemangioma, Hemangioma, Perineal h... ORPHA:141184
Bernard-Soulier Syndrome
Abnormal bleeding, Purpura, Epistaxis, Impaired ristocetin-induced platelet aggregation, Thromboc... OMIM:231200
Langer Mesomelic Dysplasia
Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, Short femoral neck, Abnor... ORPHA:2632
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
B lymphocytopenia, Bronchiectasis, Wolff-Parkinson-White syndrome, Absent circulating B cells, Hy... OMIM:619705
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Myelodysplasia, Impaired neutrophil chemotaxis, Elevated hepatic transami... ORPHA:811
Desmoplastic Small Round Cell Tumor
Anemia, Neoplasm of the central nervous system, Neoplasm of the lung, Sarcoma, Neoplasm of the pa... ORPHA:83469
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Nodular regenerative hyperplasia of liver, Abnormal breath sound, Elevated hepatic transaminase, ... ORPHA:210136
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:617243
Epiphyseal Dysplasia, Baumann Type
Metaphyseal irregularity, Genu valgum, Aplasia of metacarpal bones, Narrow pelvis bone, Clinodact... OMIM:610797
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia OMIM:612527
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Increased B cell count, Petechiae, Coombs-positive hemolyt... OMIM:603909
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly OMIM:608898
Osteopetrosis, Autosomal Recessive 6
Cortical sclerosis of the iliac wing, Dense metaphyseal bands, Erlenmeyer flask deformity of the ... OMIM:611497
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Short metacarpal, Short hallux, Short distal phalanx of finger, Hallux varus, S... OMIM:112450
Chromosome 5Q Deletion Syndrome
Myelodysplasia, Erythroid hypoplasia, Refractory macrocytic anemia, Megakaryocyte nucleus hypolob... OMIM:153550
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Thrombocytopenia, Purpura ORPHA:529
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly OMIM:185000
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Recurrent sinusitis, Absent circulating B cells OMIM:619707
Thymoma
Neoplasm of the gastrointestinal tract, Leukemia, Neoplasm of head and neck, Imbalanced hemoglobi... ORPHA:99867
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Inability to walk, Enlarged kidney, Synophrys, Long eyelashes, Congestive hea... OMIM:617303
Transcobalamin Ii Deficiency
Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Ataxia, Megaloblastic bone marrow, Macrocy... OMIM:275350
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Post-partum hemorrhage, Impaired platelet aggregation, Thrombocytopenia, Menorrhagia, Macrothromb... OMIM:124900
Li-Fraumeni Syndrome
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... OMIM:151623
Congenital Atransferrinemia
Hypothyroidism, Anemia, Abnormality of the pancreas ORPHA:1195
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Respiratory insufficiency, Sideroblastic anemia, Hypertension, Arrhythmia, Decreased liver functi... OMIM:617021
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Petechiae, Jaundice, Elevated hepatic transaminase, Purpura, Bruising susceptibility, Ecc... ORPHA:540
Dengue Fever
Hypotension, Leukopenia, Petechiae, Cerebral hemorrhage, Bruising susceptibility, Epistaxis, Card... ORPHA:99828
Spherocytosis, Type 2
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Hepatoportal Sclerosis
Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism... ORPHA:64743
Griscelli Syndrome
Leukopenia, Abnormal eyebrow morphology, Premature graying of hair, Hepatitis, Jaundice, Ataxia, ... ORPHA:381
Methylmalonic Aciduria, Cblb Type
Anemia, Neutropenia, Respiratory distress, Pancytopenia, Hepatomegaly, Thrombocytopenia, Lethargy OMIM:251110
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Elevated hepatic... ORPHA:158048
Tularemia
Anemia, Brain abscess, Cutaneous abscess, Respiratory distress, Abnormal nasopharyngeal adenoid m... ORPHA:3392
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Brittle hair, Sideroblastic anemia, Ataxia, Hypochromic microcytic anemia, Sch... OMIM:616084
Immunodeficiency By Defective Expression Of Mhc Class Ii
Gait ataxia, Rhinitis, T lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, S... ORPHA:572
Bone Marrow Failure Syndrome 4
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:618116
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hypothyroidism, Anemia, Alopecia, Hepatitis, Coombs-positive hemolytic anemia, Autoimmune thrombo... OMIM:304790
X-Linked Agammaglobulinemia
Alopecia, Anemia, Hepatitis, Abnormality of the lymphatic system, Recurrent cutaneous abscess for... ORPHA:47
Mantle Cell Lymphoma
Abnormality of bone marrow cell morphology, Lymphadenopathy, Splenomegaly, B-cell lymphoma ORPHA:52416
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Telangiectasia, Raynaud phenomenon, Lymphopenia, Follicular hyperplasia, Thro... OMIM:615934
Omenn Syndrome
Alopecia, Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphade... OMIM:603554
Abcd Syndrome
Albinism, White eyelashes, White eyebrow, Polycythemia OMIM:600501
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Spherocytosis, Type 4
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:612653
Ataxia-Telangiectasia
Female hypogonadism, Lymphoma, Abnormal spermatogenesis, Hypoplasia of the thymus, T lymphocytope... OMIM:208900
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Pancytopenia, Diffuse alveolar hemorrhage, Thrombocyto... OMIM:616050
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Met... ORPHA:174
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Holocarboxylase Synthetase Deficiency
Alopecia, Respiratory distress, Ataxia, Thrombocytopenia, Lethargy, Tachypnea ORPHA:79242
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, ... ORPHA:277
Evans Syndrome
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Syncope, Bruising susc... ORPHA:1959
Congenital Toxoplasmosis
Anemia, Ascites, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Hepatomegaly, Cardiome... ORPHA:858
Sitosterolemia 1
Stomatocytosis, Anemia, Abnormal bleeding, Reticulocytosis, Impaired platelet aggregation, Episod... OMIM:210250
Letterer-Siwe Disease
Anemia, Jaundice, Hepatosplenomegaly, Dyspnea, Thrombocytopenia, Neutropenia OMIM:246400
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Meningioma, Leukemia OMIM:602501
Bleeding Disorder, Platelet-Type, 16
Anemia, Petechiae, Abnormal bleeding, Impaired platelet aggregation, Macrothrombocytopenia, Giant... OMIM:187800
Spherocytosis, Type 1
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis OMIM:182900
Transaldolase Deficiency
Cirrhosis, Anemia, Telangiectasia, Abnormal respiratory system physiology, Hepatosplenomegaly, Th... ORPHA:101028
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Hepatic fibrosis, Premature graying of hair, Dilated cardiomyopathy, Pancytopenia, Wh... OMIM:613989
Isovaleric Acidemia
Cerebellar hemorrhage, Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, L... OMIM:243500
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Protrusio acetabuli, Broad femoral neck, Broad radial metaphysis, Hip contractur... ORPHA:99642
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Exertional dyspnea, Jaundice, Congestive heart failure, Autoimmune he... ORPHA:90033
Methylmalonic Aciduria, Cbla Type
Anemia, Neutropenia, Respiratory distress, Pancytopenia, Hepatomegaly, Thrombocytopenia, Lethargy OMIM:251100
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphoma, Chronic neutropenia, Hypothyroidism, B lymphocytopenia, Bronchiectasis, Asthma, Thyroid... OMIM:614700
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Squamous cell carcinoma of the vulva, B lymphocytopenia, Asthma, Squamous cell... ORPHA:217390
Pelviscapular Dysplasia
Mesomelic leg shortening, Hypoplastic ilia, Humeroradial synostosis, Short femur, Congenital hip ... ORPHA:93333
Livedoid Vasculopathy
Macular purpura, Anemia, Ischemic stroke, Polycythemia, Pancytopenia, Ecchymosis, Hypertension, G... ORPHA:542643
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Thrombocytopenia, Menorrhagia, Bruising susceptibility OMIM:616913
Nasu-Hakola Disease
Reduced bone mineral density, Acute leukemia, Bone cyst ORPHA:2770
Von Willebrand Disease, Type 2
Epistaxis, Thrombocytopenia, Menorrhagia, Bruising susceptibility OMIM:613554
Methylcobalamin Deficiency Type Cble
Abnormality of the liver, Neutropenia, Hypertension, Pancytopenia, Megaloblastic bone marrow, Mac... ORPHA:2169
Gaucher Disease, Type Iii
Ataxia, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:231000
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Pneumonia, Lymphopenia OMIM:247800
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Osteopetrosis, Autosomal Recessive 3
Anemia, Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Cranial hyperosto... OMIM:259730
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... OMIM:614727
Fanconi Anemia, Complementation Group A
Anemia, Reticulocytopenia, Pancytopenia, Bruising susceptibility, Male infertility, Hypergonadotr... OMIM:227650
Grant Syndrome
Micrognathia, Down-sloping shoulders, Tibial bowing OMIM:138930
Hemochromatosis, Type 2B
Hepatic fibrosis, Anemia, Cirrhosis, Hypogonadism, Secondary amenorrhea, Elevated hepatic transam... OMIM:613313
Fanconi Anemia, Complementation Group E
Anemia, Reticulocytopenia, Pancytopenia, Bruising susceptibility, Hypergonadotropic hypogonadism,... OMIM:600901
Relapsing Fever
Hypotension, Leukopenia, Anemia, Jaundice, Neutrophilia, Elevated hepatic transaminase, Abnormal ... ORPHA:91547
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Cyclic Neutropenia
Perianal abscess, Peritonitis, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Cyclic n... ORPHA:2686
Familial Thrombocytosis
Pulmonary arterial hypertension, Acute myeloid leukemia, Hyperhidrosis, Cerebral ischemia, Myelod... ORPHA:71493
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut... OMIM:619375
Sepsis In Premature Infants
Hypotension, Anemia, Petechiae, Jaundice, Nasal flaring, Purpura, Abnormal bleeding, Abnormal res... ORPHA:90051
Gaucher Disease, Type I
Pulmonary arterial hypertension, Anemia, Hypersplenism, Multiple myeloma, Hypertension, Pancytope... OMIM:230800
Isolated Agammaglobulinemia
Anemia, Abnormality of the lymphatic system, Abnormality of neutrophils, Recurrent cutaneous absc... ORPHA:229717
Diamond-Blackfan Anemia 11
Anemia, Anemia of inadequate production, Neutropenia, Bone marrow hypocellularity OMIM:614900
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... ORPHA:443167
Immunodeficiency 75 With Lymphoproliferation
Lymphoma, Bronchiectasis, Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia, Decreased ... OMIM:619126
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Diffuse Neonatal Hemangiomatosis
Anemia, Visceral angiomatosis, Thrombocytopenia, Hemangiomatosis, Hepatomegaly, Ascites ORPHA:2123
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Recurren... OMIM:607594
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Petechiae, Abnormal bleeding, Hepatomegaly, Mediastinal lymphadenopathy, ... ORPHA:158029
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Triphalangeal thumb, 11 pairs of ribs, Micrognathia, Clinodactyly, Oligodactyly, Ove... OMIM:201170
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Elevated circulating alanine aminotransferase concentration, Alopecia, Re... OMIM:615559
Schimke Immunoosseous Dysplasia
Pulmonary arterial hypertension, Anemia, Abnormal T cell morphology, Cerebral ischemia, Transient... OMIM:242900
3-Methylglutaconic Aciduria, Type Viia
Anemia, Neutropenia, Anisopoikilocytosis OMIM:619835
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Sickle Cell Anemia
Hemolytic anemia, Hypoxemia, Reticulocytosis, Persistence of hemoglobin F, Pigment gallstones, Ch... ORPHA:232
Pseudo-Torch Syndrome 3
Respiratory insufficiency, Lymphadenitis, Anemia, Cerebral hemorrhage, Hypertension, Apnea, Leuko... OMIM:618886
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Bronchiectasis, Recurrent sinusiti... OMIM:615518
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Sengers Syndrome
Respiratory insufficiency, Hypertrophic cardiomyopathy, Thrombocytopenia OMIM:212350
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Cutaneous abscess, Decreased p... OMIM:618204
Thrombotic Thrombocytopenic Purpura, Hereditary
Prolonged neonatal jaundice, Transient ischemic attack, Jaundice, Microangiopathic hemolytic anem... OMIM:274150
Gaucher Disease Type 1
Pulmonary arterial hypertension, Leukopenia, Anemia, Cirrhosis, Hypersplenism, Increased bone min... ORPHA:77259
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter... ORPHA:231154
Chilblain Lupus
Asthma, Raynaud phenomenon, Chronic myelomonocytic leukemia ORPHA:90280
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Abnormal bronchus physiology, Lymphadenopathy, Pneumonia, Thrombocyto... OMIM:209950
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Schistocytosis, Hypersegmentation of neutrophil nuclei, Folate-respons... OMIM:601775
Cyanosis, Transient Neonatal
Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia OMIM:613977
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Colon cancer, Adenomatous colonic polyposis OMIM:246470
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Petechiae, Hepatocellular carcinoma, Elevated hepatic ... OMIM:619463
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Myelodysplasia, Noncompaction cardiomyo... ORPHA:508542
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of the liver, Dysdiadochokinesis, Truncal ataxia, Jaundice, Gait disturbance, Polycyt... ORPHA:309854
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, Pulmonary hemorrhage, T lymphocytopenia, Recurrent as... ORPHA:79124
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia OMIM:205950
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired epinephrine-induced platel... OMIM:173590
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Anemia, Gait disturbance, Ataxia, Loss of ambulation, Respiratory failure, Lethargy, Tachypnea OMIM:615838
Immunodeficiency 64 With Lymphoproliferation
Bronchiectasis, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Hepato... OMIM:618534
Aspergillosis
Bronchiectasis, Hepatitis, Asthma, Intracranial hemorrhage, Chronic pulmonary obstruction, Pleura... ORPHA:1163
Necrotizing Enterocolitis
Hypotension, Neutropenia, Peritonitis, Shock, Apnea, Thrombocytopenia, Leukocytosis, Ascites, Let... ORPHA:391673
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Glabellar hemangioma, Lymphopenia, Suprava... OMIM:618624
Lysosomal Acid Lipase Deficiency
Leukopenia, Anemia, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration... OMIM:278000
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Myocardial infarction, Abnormality of venous physiology, Leukocytos... ORPHA:90064
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Pgm3-Cdg
T lymphocytopenia, Bronchiectasis, Bone marrow hypocellularity, Eosinophilia, Decreased proportio... ORPHA:443811
Hepatocellular Carcinoma
Hypotension, Anemia, Abnormality of the liver, Liver abscess, Hepatic necrosis, Jaundice, Elevate... ORPHA:88673
Giant platelet syndrome with thrombocytopenia
Bruising susceptibility, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Prolonge... OMIM:137560
Developmental And Epileptic Encephalopathy 66
Synophrys, Anemia, Neutropenia, Broad-based gait OMIM:618067
Congenital Erythropoietic Porphyria
Leukopenia, Hemolytic anemia, Squamous cell carcinoma, Abnormal bleeding, Erythroid hyperplasia, ... ORPHA:79277
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Pseudoachondroplasia
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Del... ORPHA:750
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Broad femoral neck, Genu valgum, Pseudoepiphyses, Tapered finger, Metaphyseal irregularity, Short... OMIM:601668
Rothmund-Thomson Syndrome
Sparse eyebrow, Anemia, Myelodysplasia, Abnormal trabecular bone morphology, Infertility, Squamou... ORPHA:2909
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Myocardial infarction, Dyspnea, Arrhythmia, T... ORPHA:54057
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Leukopenia, Anemia, Cardiac arrest, Jaundice, Elevated hepatic transaminase, Dilated... ORPHA:20
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Choreoathetosis, Reticulocytosis, Ataxia, Splenomegaly OMIM:612126
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia, Dilated cardiomyopathy OMIM:611283
Rothmund-Thomson Syndrome Type 1
Hypothyroidism, Anemia, Telangiectasia, Aplasia/Hypoplasia of the eyebrow, Hypogonadism, Myelodys... ORPHA:221008
Immunodeficiency 62
Bronchiectasis, Increased proportion of transitional B cells, B lymphocytopenia, Autoimmune throm... OMIM:618459
Wilson Disease
Anemia, Cirrhosis, Hepatitis, Jaundice, Elevated hepatic transaminase, Abnormality of the menstru... ORPHA:905
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias OMIM:605724
Hyperlysinemia, Type I
Anemia OMIM:238700
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Cutaneous Neuroendocrine Carcinoma
Squamous cell carcinoma of the skin, Lymphoid leukemia, Neoplasm of the outer ear, Multiple myelo... ORPHA:79140
Fgfr2-Related Bent Bone Dysplasia
Coronal craniosynostosis, Hepatosplenomegaly, Incomplete ossification of pubis, Hirsutism, Osteop... ORPHA:313855
Immunodeficiency 48
Absence of CD8-positive T cells, Pneumonia, Splenomegaly, Hepatomegaly OMIM:269840
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Giant platelets OMIM:608404
Fibular Aplasia-Complex Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... ORPHA:2639
Classic Mycosis Fungoides
Lymphoma, Alopecia, Neoplasm of the skin, Lymphadenopathy, Hepatomegaly, Cutaneous T-cell lymphom... ORPHA:2584
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal eosinophil morphology, Restrictive ventilatory defect, Cough,... ORPHA:724
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Diffuse Alveolar Hemorrhage
Anemia, Hypoxemia, Airway obstruction, Restrictive ventilatory defect, Dyspnea, Leukocytosis, Pul... ORPHA:90060
Osteosclerosis With Ichthyosis And Fractures
Tibial bowing, Cortical thickening of long bone diaphyses, Femoral bowing OMIM:166740
Kyphomelic Dysplasia
Short metacarpal, Radial bowing, Micrognathia, Flat acetabular roof, Ulnar bowing, Short femur, F... OMIM:211350
Wolcott-Rallison Syndrome
Central hypothyroidism, Hypothyroidism, Abnormality of the liver, Exocrine pancreatic insufficien... ORPHA:1667
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Jaundice, Ataxia, Reticulocytosis, Hepatosplenomegaly ORPHA:33574
Barth Syndrome
Fair hair, Gait disturbance, Congestive heart failure, Increased left ventricular end-diastolic v... OMIM:302060
Atelosteogenesis Type Ii
Short phalanx of finger, Micrognathia, Camptodactyly, Short femur, Metatarsus adductus, Increased... ORPHA:56304
Fanconi Anemia, Complementation Group C
Anemia, Reticulocytopenia, Pancytopenia, Bruising susceptibility, Hypergonadotropic hypogonadism,... OMIM:227645
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Pulmonary arterial hypertension, Leukopenia, Anemia, Respiratory insufficiency, Hypoplasia of the... OMIM:612541
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Bone marrow maturation arrest, Choreoathetosis, Abnormal bleeding, Congestive heart f... OMIM:616271
Intermediate Osteopetrosis
Anemia, Generalized osteosclerosis, Hepatosplenomegaly, Cortical sclerosis, Osteosclerosis of the... ORPHA:210110
Hodgkin Lymphoma
Lymphoma, Hyperhidrosis, Ataxia, Lymphadenopathy, Neoplasm, Dyspnea, Hepatomegaly, Cough, Splenom... ORPHA:98293
Weismann-Netter Syndrome
Lateral femoral bowing, Squared iliac bones, Anterior tibial bowing, Fibular bowing OMIM:112350
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... OMIM:169400
Porphyria Due To Ala Dehydratase Deficiency
Respiratory insufficiency, Ventilator dependence with inability to wean, Abnormal erythrocyte enz... ORPHA:100924
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Fai... OMIM:608233
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Pleural effusion, Osteolysis, Thrombocytopenia, Splenomegaly, Papilloma, Enla... ORPHA:464329
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Lymphopenia, Pancytopenia, Recurrent pneumonia, Thrombocytosis, Macrocytic ... OMIM:617780
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Orofaciodigital Syndrome Iv
Short tibia, Toe syndactyly, Foot polydactyly, Micrognathia, Short finger, Hand polydactyly, Clin... OMIM:258860
Mcleod Syndrome
Elevated circulating alanine aminotransferase concentration, Dilated cardiomyopathy, Elevated cir... OMIM:300842
Syndromic Recessive X-Linked Ichthyosis
Hypohidrosis, Acute leukemia, Testicular seminoma, Hypogonadism ORPHA:281090
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L... OMIM:619846
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Neoplasm of the skin... ORPHA:3261
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Neutropenia, Elevated hepatic transaminase OMIM:618752
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... ORPHA:166016
Chédiak-Higashi Syndrome
Inability to walk, Elevated hepatic transaminase, Large clumps of pigment irregularly distributed... ORPHA:167
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Paroxysmal atrial tachycardia, Cardiac arrest, Congestive heart failure, Th... ORPHA:49827
Nephronophthisis
Anemia ORPHA:655
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia OMIM:614520
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Myeloid maturation arrest OMIM:619813
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Hepatitis, Sclerosing cholangitis, Enlarged tonsils, Hypoxemia, Hepa... OMIM:308230
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia OMIM:301083
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Hyperhidrosis, Breast carcinoma, Abnormality of bone marrow cell morphology, Lymphadeno... ORPHA:86893
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Jaundice, Ataxia, Pancytopenia, Hepatomegaly, Increased mean corpuscular vo... OMIM:613839
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hypothyroidism, Dyspnea, Difficulty walking, Hepatomegaly, Neutropenia, Microcytic anemia, Waddli... OMIM:251900
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Elevated hepatic transaminase, Abnormal B cell... ORPHA:331206
Schimke Immuno-Osseous Dysplasia
Pulmonary arterial hypertension, Anemia, Ischemic stroke, Abnormality of thyroid physiology, Cere... ORPHA:1830
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Purulent rhinitis, Pneumonia, T lymphocytopenia, B lymphocytopenia OMIM:601457
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Amelia, Foot oligodactyly, Short femur OMIM:601357
Mitochondrial Complex I Deficiency, Nuclear Type 33
Respiratory insufficiency, Aspiration pneumonia, Bronchiectasis, Apnea, Loss of ambulation, Neutr... OMIM:618253
Alpha-Thalassemia
Anemia, Hemolytic anemia, Myelodysplasia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemog... ORPHA:846
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Immunodeficiency 54
Respiratory insufficiency, Reduced natural killer cell count, Adrenocorticotropic hormone excess,... OMIM:609981
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... ORPHA:85188
Vitamin B12-Responsive Methylmalonic Acidemia
Respiratory insufficiency, Anemia, Lethargy, Hepatomegaly ORPHA:28
Ebola Hemorrhagic Fever
Leukopenia, Hepatitis, Abnormal bleeding, Lymphopenia, Acute pancreatitis, Dyspnea, Cough, Gastro... ORPHA:319218
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Elevated hepatic transaminase, Bruising susceptibility, Myocard... ORPHA:182050
Prolidase Deficiency
Anemia, Prolonged neonatal jaundice, Petechiae, Asthma, Elevated circulating aspartate aminotrans... OMIM:170100
Purine Nucleoside Phosphorylase Deficiency
Lymphoma, Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Cerebral v... OMIM:613179
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Thrombocytopenia, Congestive heart failure, Respiratory distress OMIM:619751
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Micromelia, Short femur, Femoral bowing, Abnormal sacroiliac joint morphology, ... ORPHA:1860
Omenn Syndrome
Lymphoma, Hypothyroidism, Anemia, Alopecia, Aplasia/Hypoplasia of the eyebrow, Thyroiditis, Lymph... ORPHA:39041
Cartilage-Hair Hypoplasia
Lymphoma, Sparse eyebrow, Anemia, Fair hair, Basal cell carcinoma, Sparse facial hair, Lymphopeni... OMIM:250250
Elliptocytosis 1
Elliptocytosis, Splenomegaly, Hemolytic anemia, Jaundice OMIM:611804
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Developmental And Epileptic Encephalopathy 50
Anemia, Anisopoikilocytosis, Schistocytosis, Broad-based gait, Acanthocytosis OMIM:616457
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia, Hemangioma OMIM:141000
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Bronchiectasis, Asthma, Cutaneous abscess, Lymphopenia, Recurr... OMIM:619752
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Hypothyroidism, Asthma, Hepatosplenomegaly, Recurrent pneumonia, Lymphadenopathy, Mitral... OMIM:619750
Lymphoproliferative Syndrome 2
Lymphoma, Pancytopenia, Hepatosplenomegaly, Recurrent pneumonia, Lymphadenopathy, Lymphoprolifera... OMIM:615122
Hoyeraal-Hreidarsson Syndrome
Anemia, Sparse scalp hair, Premature graying of hair, Generalized hypopigmentation of hair, Ataxi... ORPHA:3322
Transaldolase Deficiency
Anemia, Hepatic fibrosis, Cirrhosis, Telangiectasia, Asthma, Synophrys, Pancytopenia, Hepatosplen... OMIM:606003
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Fumarase Deficiency
Hepatic failure, Polycythemia, Cholestasis, Cutaneous leiomyoma OMIM:606812
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Storage Pool Platelet Disease
Myelodysplasia, Abnormal bleeding, Acute leukemia, Prolonged bleeding time, Decreased mean platel... OMIM:185050
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Von Hippel-Lindau Syndrome
Pancreatic cysts, Renal cell carcinoma, Neoplasm of the pancreas, Retinal capillary hemangioma, P... OMIM:193300
Immunodeficiency 23
Hemolytic anemia, Bronchiectasis, Allergic rhinitis, Asthma, Vasculitis in the skin, Lymphopenia,... OMIM:615816
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Thrombocytopenia, Cardiomyopathy ORPHA:67048
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Elevated hepatic transaminase, Respiratory distress, Hypertrophic cardiomyo... OMIM:613561
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Acanthocytosis OMIM:607236
Acute Interstitial Pneumonia
Reduced hematocrit, Bronchiectasis, Hypoxemia, Hypertension, Pleural effusion, Crackles, Lymphade... ORPHA:79126
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... ORPHA:2634
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Short metacarpal, Rhizomelia, Brachydactyly, Short metatarsal, Deformed humeral heads,... OMIM:601438
Sweet Syndrome
Acute myeloid leukemia, Anemia, Sterile abscess, Breast carcinoma, Chronic lymphatic leukemia, Sm... ORPHA:3243
Encephalopathy Due To Prosaposin Deficiency
Respiratory insufficiency, Splenomegaly, Hepatomegaly ORPHA:139406
Beta-Ketothiolase Deficiency
Hypotension, Hypertension, Ataxia, Cough, Thrombocytosis, Leukocytosis, Hepatomegaly, Tachypnea ORPHA:134
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Raynaud phenomenon, Hypertension, Abnormal platelet aggregation ORPHA:401945
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Asthma, Jaundice, Osteopenia, Hepatomegaly, Calvarial hyperostosis, Exocrine p... OMIM:612714
Indolent Systemic Mastocytosis
Mastocytosis, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomega... ORPHA:98848
Atelosteogenesis, Type I
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di... OMIM:108720
Elliptocytosis 3
Intermittent jaundice, Elliptocytosis, Decreased mean corpuscular volume, Chronic hemolytic anemi... OMIM:617948
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy, Lymphoproliferative disor... OMIM:618261
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormality of tibia morphology, Split hand, Abnormality of... ORPHA:2492
Systemic Lupus Erythematosus
Pericarditis, Leukopenia, Thrombocytopenia, Hemolytic anemia OMIM:152700
Trichothiodystrophy 3, Photosensitive
Abdominal adhesions, Tiger tail banding, Trichorrhexis nodosa, Brittle hair, Lymphopenia, Neoplas... OMIM:616395
Immunodeficiency 40
Elevated circulating alanine aminotransferase concentration, T lymphocytopenia, Interstitial pneu... OMIM:616433
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Leukopenia, Anemia, Cirrhosis, Hyperhidrosis, Premature graying of hair, ... OMIM:305000
Ivic Syndrome
Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Short 1st metacarpal, Hypoplasia of th... OMIM:147750
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia, Unsteady gait OMIM:610090
Thyrocerebrorenal Syndrome
Thrombocytopenia, Nonprogressive cerebellar ataxia ORPHA:3327
Abetalipoproteinemia
Ataxia, Acanthocytosis OMIM:200100
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Anemia, Megaloblastic anemia, Pancytopenia, Hepatomegaly, Lethargy, Thrombocytopenia, Neutropenia OMIM:277380
Osteopetrosis, Autosomal Dominant 3
Anemia, Hyperparathyroidism, Osteopenia, Hepatomegaly, Splenomegaly OMIM:618107
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Hemolytic anemia, Inability to walk, Jaundice, Ataxia, Hepatomegaly, Splenomegaly OMIM:608885
Fetal Gaucher Disease
Intracranial hemorrhage, Pancytopenia, Thrombocytopenia, Hepatomegaly, Abnormality of the spleen,... ORPHA:85212
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis OMIM:616959
Mismatch Repair Cancer Syndrome 1
Lymphoma, Medulloblastoma, Astrocytoma, Adenocarcinoma of the small intestine, Adenocarcinoma of ... OMIM:276300
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Epistaxis, Increased mean platelet volume OMIM:615193
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing, Flared iliac wing, Ulnar b... OMIM:602111
Familial Pseudohyperkalemia
Stomatocytosis, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... ORPHA:90044
Orotic Aciduria
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Folate-unresponsive meg... OMIM:258900
Preeclampsia
Elevated systolic blood pressure, Elevated hepatic transaminase, Hypertension, Abnormality of the... ORPHA:275555
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Bronchiectasis, Recurrent sinusitis, Chronic pulmonary obstruction, Autoimmune hemolyti... OMIM:616576
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Purpura, Hypertension, Reticulocytosis, Schistocytosis, Thromb... OMIM:235400
X-Linked Sideroblastic Anemia
Dyspnea, Anemia, Elevated hepatic transaminase, Splenomegaly ORPHA:75563
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Abetalipoproteinemia
Gait ataxia, Hypothyroidism, Anemia, Hepatic fibrosis, Cirrhosis, Respiratory failure, Elevated h... ORPHA:14
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Pneumothorax, Choreoathetosis, Elevated hepatic transaminase, Hepatic steatosis, ... ORPHA:445038
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, T lymphocytopenia, Bronchiectasis, B lymphocytopenia, Perianal... OMIM:618108
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... OMIM:602450
Short Rib-Polydactyly Syndrome
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Limb undergrowth, Short ribs, Acetab... ORPHA:1505
Boutonneuse Fever
Leukopenia, Petechiae, Elevated hepatic transaminase, Lymphadenopathy, Cervical lymphadenopathy, ... ORPHA:83313
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Potocki-Shaffer Syndrome
Nephroblastoma, Hypothyroidism, Anemia, Hypertension, Decreased skull ossification, Exostoses ORPHA:52022
Achondroplasia
Genu varum, Short femoral neck, Rhizomelia, Short ribs, Radial bowing, Ulnar bowing, Short femur,... OMIM:100800
Infantile Sialic Acid Storage Disease
Fair hair, Congestive heart failure, Osteopenia, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated ... OMIM:269920
Rothmund-Thomson Syndrome Type 2
Lymphoma, Anemia, Aplasia/Hypoplasia of the eyebrow, Myelodysplasia, Abnormal trabecular bone mor... ORPHA:221016
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, Prolonged ne... OMIM:257200
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Neoplasm o... ORPHA:543
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Cirrhosis, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... OMIM:616860
Autoimmune Hemolytic Anemia
Lymphoma, Hemolytic anemia, Congestive heart failure, Dyspnea, Arrhythmia, Abnormal leukocyte mor... ORPHA:98375
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Impotence, Raynaud phenomenon, Hypertension, Thrombocytopenia OMIM:615750
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Osteosarcoma, Low anterior hairline, Adenocarcinoma of the co... ORPHA:124
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Sinusitis, Cough, Neutropenia, Verrucae ORPHA:33110
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, T lymphocytopenia, Lymphopenia, Verrucae OMIM:618309
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Asthma, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Au... OMIM:102700
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Leukopenia, Anemia, Respiratory insufficiency, Pancytopenia, Res... OMIM:613845
Pearson Marrow-Pancreas Syndrome
Anemia, Hepatic failure, Reticulocytopenia, Exocrine pancreatic insufficiency, Refractory siderob... OMIM:557000
Gastrointestinal Stromal Tumor
Neoplasm of the stomach, Anemia, Abnormality of the liver, Neoplasm of the gastrointestinal tract... ORPHA:44890
Acromesomelic Dysplasia, Hunter-Thompson Type
Patellar dislocation, Short metacarpal, Cuboidal metacarpal, Abnormality of the ankle, Hip disloc... ORPHA:968
Cryptogenic Organizing Pneumonia
Pneumothorax, Neutrophilia, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory de... ORPHA:1302
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Anemia, Jaundice, Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, At... OMIM:603553
Classic Hodgkin Lymphoma
Lymphoma, Hyperhidrosis, Respiratory insufficiency, Ataxia, Osteolysis, Lymphadenopathy, Neoplasm... ORPHA:391
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Lymphocytic ... OMIM:618495
Congenital Rubella Syndrome
Anemia, Jaundice, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:290
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Premature graying of hair, Myelodysplasia, Abnormally low T cell receptor excision circle level, ... OMIM:619767
Rosaï-Dorfman Disease
Osteolysis, Anemia, Lymphadenopathy ORPHA:158014
Progeria-Short Stature-Pigmented Nevi Syndrome
Alopecia, T lymphocytopenia, Premature ovarian insufficiency, Central sleep apnea, Neoplasm of th... ORPHA:2959
Platelet Disorder, Undefined
Abnormal bleeding, Impaired platelet aggregation, Hematological neoplasm, Prolonged bleeding time... OMIM:173420
Juvenile Temporal Arteritis
Cerebral ischemia, Allergic rhinitis, Leukocytosis, Eosinophilia, Vasculitis ORPHA:26137
Sandhoff Disease
Congestive heart failure, Splenomegaly, Ataxia, Hepatomegaly ORPHA:796
Whim Syndrome
Papilloma, Verrucae, Lymphadenitis, Abnormality of neutrophil morphology, Bronchiectasis, Limb at... ORPHA:51636
Bleeding Disorder, Platelet-Type, 21
Alopecia, Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired platelet aggrega... OMIM:617443
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Sandal gap, Short hum... OMIM:607143
Elliptocytosis 2
Elliptocytosis, Hemolytic anemia, Reticulocytosis OMIM:130600
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly OMIM:224100
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Hypoplastic pubic bone, Short long bone, Flat acetabula... OMIM:608728
Holocarboxylase Synthetase Deficiency
Alopecia, Thrombocytopenia, Lethargy, Hyperventilation, Tachypnea OMIM:253270
Immunodeficiency 92
B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholangitis, Decreased proportion of cl... OMIM:619652
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Leukopenia, Anemia, Myocarditis, Alopecia, Lymphocytosis, Elevate... ORPHA:50918
Progressive Familial Intrahepatic Cholestasis
Abnormality of thrombocytes, Jaundice, Neoplasm, Cholestasis, Hepatomegaly, Splenomegaly, Reduced... ORPHA:172
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated hepatic transaminase, Abnormal bleeding, Biliary tract abnormality,... ORPHA:79301
Lig4 Syndrome
Hypothyroidism, Telangiectasia, Myelodysplasia, Pancytopenia, Thrombocytopenia, Amenorrhea OMIM:606593
Hyperparathyroidism, Neonatal Severe
Anemia, Dyspnea, Hepatomegaly, Primary hyperparathyroidism, Splenomegaly, Tachypnea OMIM:239200
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ataxia, Thiamine-responsive megaloblastic anemia, Arrhythmia, Thrombocytope... OMIM:249270
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Anemia, Jaundice, Ataxia, Lymphadenopathy, Hemophagocytosis, Prolonged prothrombin ti... OMIM:267700
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Absent circulating B cells OMIM:613500
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hypothyroidism, Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, ... OMIM:606367
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Abnormal bleeding, Bruising susceptibility, Impaired platelet a... OMIM:277480
Hermansky-Pudlak Syndrome 10
Albinism, Apnea, Hepatomegaly, Neutropenia, Splenomegaly OMIM:617050
Pyropoikilocytosis, Hereditary
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis OMIM:266140
Bloom Syndrome
Acute myeloid leukemia, Myelodysplasia, Esophageal neoplasm, Acute lymphoblastic leukemia, Decrea... ORPHA:125
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage, Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Elevated hepatic transaminase, Decreased proportion of CD4-positive T cells, Hepatic st... OMIM:301045
Osteopetrosis, Autosomal Recessive 1
Anemia, Calvarial osteosclerosis, Increased bone mineral density, Pancytopenia, Hepatomegaly, Thr... OMIM:259700
Atelosteogenesis Type Iii
Short tibia, Short tubular bones of the hand, Patellar dislocation, Vertebral hypoplasia, Abnorma... ORPHA:56305
Mirage Syndrome
Leukopenia, Anemia, Radial club hand, Aspiration pneumonia, Petechiae, Myelodysplasia, Adrenal in... OMIM:617053
Galactosemia
Decreased fertility, Cirrhosis, Hepatic failure, Gait imbalance, Secondary amenorrhea, Premature ... ORPHA:352
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Pneumonia ORPHA:464370
Immune Thrombocytopenia
Cerebral hemorrhage, Petechiae, Purpura, Bruising susceptibility, Epistaxis, Gingival bleeding, G... ORPHA:3002
Fanconi Anemia, Complementation Group D2
Anemia, Reticulocytopenia, Pancytopenia, Bruising susceptibility, Hypergonadotropic hypogonadism,... OMIM:227646
Hypobetalipoproteinemia, Familial, 1
Ataxia, Elevated circulating alanine aminotransferase concentration, Elevated circulating asparta... OMIM:615558
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hypothyroidism, Neutropenia in presence of anti-neutropil antibodies, Interstitial pneumonitis, A... OMIM:615952
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Sinusitis, Pneumonia, Decreased proportion of CD4-p... OMIM:312863
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Pancytopenia, Hemophagocytosis, Hepatomegaly, Aplastic anemia, Splenomegaly OMIM:300635
Paget Disease Of Bone 2, Early-Onset
Femoral bowing, Short femur, Osteosclerosis of the ulna, Bowing of the long bones, Fractures of t... OMIM:602080
Hemochromatosis, Type 4
Anemia, Cirrhosis, Impotence, Hepatic steatosis, Hepatomegaly, Arrhythmia, Cardiomyopathy OMIM:606069
Agammaglobulinemia, X-Linked
Anemia, T lymphocytopenia, B lymphocytopenia, Prostatitis, Bronchiectasis, Hepatocellular carcino... OMIM:300755
Noonan Syndrome 6
Curly hair, Long eyebrows, Hypertrophic cardiomyopathy, Juvenile myelomonocytic leukemia, Low pos... OMIM:613224
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Short phalanx of finger, Hip subluxation, Tibial deviation of toes, Short 5th finger... OMIM:268305
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding OMIM:188025
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Bronchiectasis, Increased proportion of memory T cells, Hepatosplenomegal... OMIM:618982
Cog4-Cdg
Cirrhosis, Elevated hepatic transaminase, Ataxia, Hepatosplenomegaly, Fatal liver failure in infa... ORPHA:263501
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Alopecia, Anemia, Ectopic ossification in ligament tissue, Ectopic oss... ORPHA:337
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia, Nail ... OMIM:613987
Turcot Syndrome With Polyposis
Neoplasm of the central nervous system, Ependymoma, Hepatoblastoma, Soft tissue neoplasm, Glioma,... ORPHA:99818
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, Rhizomelia, Hypoplast... OMIM:608940
Diamond-Blackfan Anemia 16
Anemia, Pulmonic stenosis OMIM:617408
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Alopecia, Premature graying of hair, Decreased DLCO, Pancytopenia, Ataxia, Fine hair,... OMIM:613990
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Abnormal bleeding OMIM:314000
Von Hippel-Lindau Disease
Pancreatic cysts, Hyperhidrosis, Adrenal pheochromocytoma, Pancreatic endocrine tumor, Renal cell... ORPHA:892
Poikiloderma With Neutropenia
Leukopenia, Sparse eyebrow, Telangiectasia, Sparse lateral eyebrow, Recurrent sinusitis, Recurren... OMIM:604173
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Aplasia/Hypoplasia of the eyebrow, Pancytopenia, Bone marrow hypocellular... OMIM:617052
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Genu varum, Broad foot, Short foot, Broad tibial metaphyses, Short femoral... ORPHA:2502
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia, Abnormal platelet aggregation OMIM:614171
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Chronic Visceral Acid Sphingomyelinase Deficiency
Cirrhosis, Hepatic failure, Hypersplenism, Neoplasm of the liver, Acute promyelocytic leukemia, A... ORPHA:77293
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Neutropenia, Reduced number of intrahepatic bile ducts, Intraventricular he... ORPHA:79284
Developmental Delay, Hypotonia, And Impaired Language
Recurrent pneumonia, Neutropenia, Ataxia OMIM:620012
Good Syndrome
Thymoma, Anemia, Bronchiectasis, Aplasia/Hypoplasia of the thymus, Sinusitis, Dyspnea, Cough, Med... ORPHA:169105
Short Stature With Microcephaly And Distinctive Facies
Sparse eyebrow, Anemia, Sparse scalp hair, Anisopoikilocytosis, Osteopenia OMIM:615789
Hemochromatosis, Type 2A
Cirrhosis, Infertility, Azoospermia, Congestive heart failure, Dilated cardiomyopathy, Hepatomega... OMIM:602390
Pediatric-Onset Graves Disease
Hyperhidrosis, Sinus tachycardia, Neutropenia in presence of anti-neutropil antibodies, Jaundice,... ORPHA:525731
Choreoacanthocytosis
Progressive choreoathetosis, Acanthocytosis OMIM:200150
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Bronchiectasis, Impaired neutrophil chemotaxis, Coronal... ORPHA:2968
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hyperechogenic pancreas, Prolonged prothrombin time, Hepatomegaly, Exocrine pa... OMIM:617941
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Elevated hepatic transaminase, Lymphopenia, Lymphadenopathy, Sinusitis, Hepatomegaly, Thr... OMIM:617591
Cinca Syndrome
Abnormality of thrombocytes, Anemia, Abnormal granulocyte morphology, Purpura, Abnormality of neu... ORPHA:1451
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Rickets... OMIM:611590
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Leukopenia, Anemia, Abnormality of neutrophils ORPHA:33355
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Lymphadenopathy, Decreased proportion of memory B cel... OMIM:618048
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Ataxia-Telangiectasia
Mucosal telangiectasiae, Premature graying of hair, Aplasia/Hypoplasia of the thymus, Gait distur... ORPHA:100
Rh-Null, Regulator Type
Stomatocytosis, Jaundice, Hemolytic anemia OMIM:268150
Li-Fraumeni Syndrome 2
Stomach cancer, Breast carcinoma, Sarcoma, Meningioma, Glioma OMIM:609265
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, Talipes, Short ... OMIM:227270
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Bloom Syndrome
Decreased fertility in females, Lymphoma, Bronchiectasis, Squamous cell carcinoma, Azoospermia, F... OMIM:210900
Common Variable Immunodeficiency
Lymphoma, Abnormality of the liver, Hemolytic anemia, Bronchiectasis, Elevated hepatic transamina... ORPHA:1572
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Anhidrosis, Lymphadenopathy, Neoplasm, Hepatomegaly, Thrombocytopenia, Pneumoni... ORPHA:169090
Tyrosinemia Type 1
Rickets of the lower limbs, Hepatocellular carcinoma, Hepatomegaly, Acute hepatic failure, Spleno... ORPHA:882
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis, Generalized hirsutism ORPHA:79087
Heme Oxygenase 1 Deficiency
Asplenia, Elevated circulating alanine aminotransferase concentration, Hemolytic anemia, Coombs-p... OMIM:614034
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Metaphyseal irregularity, Genu valgum, Bulging epiphyses, Rickets of the lower limbs,... OMIM:600785
Osteopetrosis With Renal Tubular Acidosis
Pulmonary arterial hypertension, Leukopenia, Anemia, Elliptocytosis, Enlarged tonsils, Pancytopen... ORPHA:2785
Immunodeficiency 70
Verrucae, Recurrent sinusitis, B lymphocytopenia, Decreased proportion of CD4-positive helper T c... OMIM:618969
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Bronchiectasis, Abnormally low T cell receptor excision circle level, Lymphope... OMIM:242700
Spondyloepiphyseal Dysplasia Congenita
Genu valgum, Upper limb undergrowth, Short femoral neck, Short long bone, Abnormal foot morpholog... ORPHA:94068
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Pulmonary arterial hypertension, T lymphocytopenia, B lymphocytopenia, Oropharyngeal squamous cel... ORPHA:391487
Thyrocerebroretinal Syndrome
Thrombocytopenia, Ataxia OMIM:274240
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... OMIM:619313
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Curly hair, Trichorrhexis nodosa, Lymphocytosis, Sparse pubic hair, Curly ey... OMIM:258360
Immunodeficiency 44
Elevated circulating alanine aminotransferase concentration, Lymphopenia OMIM:616636
Nijmegen Breakage Syndrome
Lymphoma, Hemolytic anemia, Glioma, Rhabdomyosarcoma, Autoimmune hemolytic anemia, Recurrent pneu... ORPHA:647
Cinca Syndrome
Anemia, Hepatosplenomegaly, Lymphadenopathy, Leukocytosis, Eosinophilia OMIM:607115
Pseudo-Torch Syndrome 2
Respiratory insufficiency, Petechiae, Cerebral hemorrhage, Elevated hepatic transaminase, Pleural... OMIM:617397
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Peritonitis, Hypertension, Reticulocytosis, Myocardial infarct... ORPHA:90038
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Respiratory insufficiency, Ascites, Anemia, Splenomegaly ORPHA:1046
Metaphyseal Acroscyphodysplasia
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... OMIM:250215
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Abnormal bleeding, Bruising susceptibility, Epistaxis, Thr... OMIM:185070
Immunodeficiency 10
Hypohidrosis, Kaposi's sarcoma, Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocytopenia OMIM:612783
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Increased mean corpuscular volume, Neutropenia, Osteoporosis OMIM:612562
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Hemolytic anemia, Perianal abscess, Granuloma, Lymphopenia, Hepatosplenomegaly, Pl... OMIM:618935
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Chronic sinusitis, B lymphocytopenia OMIM:612692
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Bronchiectasis, Wheezing, Elevated hepatic transaminase, Hepatocellular carcinoma, Chr... OMIM:613490
Bent Bone Dysplasia Syndrome 2
Short tibia, Hypoplastic iliac wing, Short sternum, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly OMIM:618892
Classic Galactosemia
Decreased fertility in females, Hepatic failure, Gait imbalance, Secondary amenorrhea, Premature ... ORPHA:79239
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Subcutaneous panniculitis-like T-cell lymphoma, Pancytopenia, Hemophagocytosis, Splenomegaly OMIM:618398
Acquired Purpura Fulminans
Macular purpura, Hepatic failure, Intracranial hemorrhage, Internal hemorrhage, Shock, Neoplasm, ... ORPHA:49566
Fusariosis
Brain abscess, Abnormality of the liver, Bronchiectasis, Productive cough, Granuloma, Peritonitis... ORPHA:228119
Lysinuric Protein Intolerance
Respiratory insufficiency, Leukopenia, Anemia, Pulmonary hemorrhage, Pancreatitis, Fine hair, Ost... OMIM:222700
Atelosteogenesis Type I
Abnormal ossification involving the femoral head and neck, Rhizomelia, Short long bone, Micrognat... ORPHA:1190
Adult-Onset Still Disease
Hepatitis, Neutrophilia, Elevated hepatic transaminase, Generalized lymphadenopathy, Pericarditis... ORPHA:829
Spondyloenchondrodysplasia With Immune Dysregulation
Hypothyroidism, T lymphocytopenia, Raynaud phenomenon, Purpura, Recurrent sinusitis, Lymphopenia,... OMIM:607944
Bacterial Toxic-Shock Syndrome
Hypotension, Hepatitis, Peritonitis, Increased circulating metamyelocyte count, Respiratory distr... ORPHA:36234
Thalidomide Embryopathy
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly... ORPHA:3312
Cohen Syndrome
Thick eyebrow, Leukopenia, Neutropenia, Decreased response to growth hormone stimulation test OMIM:216550
Orofaciodigital Syndrome Ix
Short tibia, Hand polydactyly, Camptodactyly, Toe syndactyly OMIM:258865
Immunodeficiency 68
Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess OMIM:612260
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypogonadism, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, Spheroc... ORPHA:251066
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Nail dystrophy, Anemia, Scarring alopecia of scalp ORPHA:79402
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, B lymphocytopenia OMIM:619851
Gaucher Disease Type 2
Cardiac arrest, Respiratory distress, Abnormal pattern of respiration, Cough, Hepatomegaly, Splen... ORPHA:77260
Coxoauricular Syndrome
Abnormality of femur morphology, Hip dislocation, Micromelia, Abnormal pelvic girdle bone morphology ORPHA:1508
Snakebite Envenomation
Hypotension, Cerebral ischemia, Respiratory paralysis, Cardiogenic shock, Hypopituitarism, Intrac... ORPHA:449285
Mevalonic Aciduria
Anemia, Elevated hepatic transaminase, Ataxia, Hepatosplenomegaly, Normocytic hypoplastic anemia,... OMIM:610377
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Respiratory insufficiency, Bronchiectasis, Asthma, Abnormal eosi... ORPHA:1164
Arthrogryposis Multiplex Congenita 5
Akinesia, Normocytic anemia, Cardiac arrest, Poikilocytosis, Restrictive ventilatory defect, Neon... OMIM:618947
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Elevated hepatic transaminase, Acanth... ORPHA:71
Cronkhite-Canada Syndrome
Sparse body hair, Stomach cancer, Anemia, Alopecia, Dystrophic toenail, Aplasia/Hypoplasia of the... ORPHA:2930
Congenital Factor Ii Deficiency
Anemia, Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracrania... ORPHA:325
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Micromelia, Oligo... OMIM:251230
Drug-Induced Lupus Erythematosus
Anemia, Petechiae, Pericarditis, Dyspnea, Thrombocytopenia, Prolonged QTc interval ORPHA:231111
Proteus Syndrome
Multiple lipomas, Thin bony cortex, Hemangioma, Facial hyperostosis, Mandibular hyperostosis, Lip... OMIM:176920
Farber Lipogranulomatosis
Osteolytic defects of the phalanges of the hand, Respiratory insufficiency, Osteolysis involving ... OMIM:228000
Hydrops Fetalis, Nonimmune
Anemia, Congestive heart failure OMIM:236750
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Hepatic fibrosis, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... OMIM:616278
Cryptococcosis
Cirrhosis, Prostatitis, Lymphoid leukemia, Respiratory distress, Pleural effusion, Osteolysis, Ne... ORPHA:1546
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Primary adrenal insufficiency, Pancytopenia, Hepatic steatosis, Hypergonadotropi... OMIM:617872
Wolman Disease
Hepatic failure, Anemia, Adrenal insufficiency, Bone-marrow foam cells, Hepatomegaly, Ascites, Sp... ORPHA:75233
Neuraminidase Deficiency
Epiphyseal stippling, Dysmetria, Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Ascites, Vac... OMIM:256550
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Broad foot... OMIM:609441
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Sparse scalp hair, Loose anagen hair, Curly hair, Long eyelashes, Myelofibrosis, Hemangioma, Aort... OMIM:607721
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Alopecia, Hyperthyroidism, Hepatitis, Neutropenia in presence of anti-neutropil a... ORPHA:37042
Immunodeficiency 49
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... OMIM:617237
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Brain abscess, Abnormality of the pancreas, Liver abscess... ORPHA:54251
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphoma, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells,... ORPHA:276
Immunodeficiency 55
Myelodysplasia, Lymphopenia, Lymphadenopathy, Neutropenia, Absent natural killer cells OMIM:617827
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... ORPHA:2442
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Pulmonary arterial hypertension, Hypothyroidism, Anemia, Hepatic fibrosis, Respiratory insufficie... OMIM:620005
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphoma, Abnormal lymph node morphology, Lymphadenitis, Lymphocytosis, Decreased proportion of C... ORPHA:911
Stormorken-Sjaastad-Langslet Syndrome
Abnormality of thrombocytes, Asplenia, Anemia, Purpura ORPHA:3204
Stt3B-Cdg
Thrombocytopenia, Respiratory distress ORPHA:370924
Triokinase And Fmn Cyclase Deficiency Syndrome
Elevated circulating alanine aminotransferase concentration, Pancreatitis, Dilated cardiomyopathy... OMIM:618805
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis OMIM:604777
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Mirror image foot polydactyly, Bila... OMIM:119800
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia, Respiratory distress OMIM:615597
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent pneumonia, T lymphocytopenia, Eosinophilia OMIM:610163
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... OMIM:619510
Braddock-Carey Syndrome 2
Thrombocytopenia, Megakaryocytopenia OMIM:619981
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Micrognathia, Camptodactyly, Hypop... OMIM:601559
Glucagonoma
Intermittent jaundice, Primary hyperparathyroidism, Extrahepatic cholestasis, Increased circulati... ORPHA:97280
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Epistaxis, Menorrhagi... OMIM:601709
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Myelodysplasia, Supernumerary nipple, Bicoronal synostosis, Highly arched eyebrow, Leukemia OMIM:619951
Hermansky-Pudlak Syndrome 5
Albinism, Impaired ADP-induced platelet aggregation, Bruising susceptibility, Absent platelet den... OMIM:614074
Hemochromatosis, Type 1
Alopecia, Cirrhosis, Telangiectasia, Impotence, Elevated hepatic transaminase, Hepatocellular car... OMIM:235200
Congenital Disorder Of Glycosylation, Type Ih
Hypothyroidism, Anemia, Thrombocytopenia, Cholestasis, Hepatomegaly, Decreased circulating T4 con... OMIM:608104
Late-Onset Junctional Epidermolysis Bullosa
Hyperhidrosis, Anemia, Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma, Nail dy... ORPHA:79406
Infantile Liver Failure Syndrome 1
Anemia, Elevated hepatic transaminase, Hepatic steatosis, Macrocytic anemia, Hepatomegaly, Acute ... OMIM:615438
Sézary Syndrome
Lymphoma, Alopecia, Neoplasm of the skin, Nail dystrophy, Lymphadenopathy, Hepatomegaly, Cutaneou... ORPHA:3162
Microphthalmia With Limb Anomalies
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydactyly, Talipes e... ORPHA:1106
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Fractured radius, Short ribs, Micrognathia, Short femur, Adducted thumb, Flared metaphysis, Limb ... OMIM:616897
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Erythroid hyperplasia, Reticulocytosis, Decreased hemoglobin concentration, Chronic hem... OMIM:266200
Caroli Syndrome
Elevated hepatic transaminase, Cholangiocarcinoma, Hepatomegaly, Hematemesis, Abnormality of the ... ORPHA:480520
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Asthma, Lymphadenopathy, Pneumonia, Splenomegaly OMIM:607271
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Majeed Syndrome
Increased bone mineral density, Hypochromic microcytic anemia, Cough, Leukocytosis, Hepatomegaly,... ORPHA:77297
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hepatic arteriovenous malformation, Brain abscess, Ischemic stroke, Spontaneous, recurrent epista... OMIM:187300
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Boomerang Dysplasia
Hypoplastic iliac body, Fibular aplasia, Absent radius OMIM:112310
Maternal Uniparental Disomy Of Chromosome 1
Ataxia, Epiphyseal stippling, Pancytopenia, Hepatomegaly ORPHA:251009
Lymphangiectasia, Intestinal
Abnormal hair morphology, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Leigh Syndrome With Leukodystrophy
Anemia, Apnea, Hypertrophic cardiomyopathy, Progressive cerebellar ataxia, Hypertrichosis ORPHA:255241
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Genu valgum, Abnormality of the knee, Coxa vara, Short femoral neck, Abnor... ORPHA:93316
Junctional Epidermolysis Bullosa Inversa
Anemia, Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma, Nail dystrophy ORPHA:79405
Shox-Related Short Stature
Genu valgum, Micrognathia, Lower limb undergrowth, Ulnar radial head dislocation, Forearm undergr... ORPHA:314795
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Anemia, Sparse scalp hair ORPHA:2325
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Spontaneous hemolytic crises, Jaundice, Ataxia, Hepatosplenomegaly ORPHA:168577
Biotinidase Deficiency
Alopecia, Ataxia, Apnea, Hepatomegaly, Lethargy, Splenomegaly, Tachypnea OMIM:253260
Toxic Epidermal Necrolysis
Sudden cardiac death, Anemia, Elevated hepatic transaminase, Respiratory distress, Restrictive ve... ORPHA:537
Slc35A2-Cdg
Short tibia, Camptodactyly of finger, Hip subluxation, Coxa valga, Abnormal long bone morphology,... ORPHA:356961
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly, Leukocytosis OMIM:611762
Lathosterolosis
Hepatic failure, Anisopoikilocytosis, Intrahepatic cholestasis, Abnormal platelet morphology, Hep... ORPHA:46059
Pediatric Systemic Lupus Erythematosus
Leukopenia, Alopecia, Microangiopathic hemolytic anemia, Raynaud phenomenon, Lymphopenia, Pleural... ORPHA:93552
Werner Syndrome
Premature graying of hair, Increased bone mineral density, Melanoma, White forelock, Neoplasm, Ab... ORPHA:902
Eosinophilic Gastroenteritis
Anemia, Allergic rhinitis, Asthma, Leukocytosis, Eosinophilia, Ascites, Hematochezia ORPHA:2070
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Hepatocellular carcinoma, Hepatic steatosis, Hepatomegaly, Hepatocellular adenoma... ORPHA:79259
Pearson Syndrome
Hypothyroidism, Adrenal insufficiency, Elevated hepatic transaminase, Reticulocytosis, Hepatic st... ORPHA:699
Hb Bart'S Hydrops Fetalis
Anemia, Congestive heart failure, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Ataxia, Erythroid hyperplasia, Reticulocytosis OMIM:300653
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatitis, Lymphopenia, Hepatosplenomegaly, Recurrent pneumonia, Eosinophilia, Decreased proporti... ORPHA:169160
Immunodeficiency 22
Anemia, Pericarditis, Thrombocytopenia, Capillary leak, Decreased proportion of CD4-positive help... OMIM:615758
Hypothyroidism, Congenital, Nongoitrous, 6
Anemia, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism, Increased T3/T4 ratio... OMIM:614450
Wolfram Syndrome 1
Hypothyroidism, Megaloblastic anemia, Sideroblastic anemia, Ataxia, Testicular atrophy, Thrombocy... OMIM:222300
Glycogen Storage Disease Ib
Enlarged kidney, Pancreatitis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hypertens... OMIM:232220
Blue Rubber Bleb Nevus
Cerebellar medulloblastoma, Abnormality of the liver, Hemangioma, Intestinal bleeding, Iron defic... OMIM:112200
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Retinal hemorrhage, Vitreous hemorrhage, Abnormality of the liver, Cerebral hemorrhage, Central s... ORPHA:464321
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, Hepatomegaly ORPHA:2204
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Abnormal megakaryocyte morphology, Petechiae, Asthma, Sp... ORPHA:274
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Klippel-Trénaunay Syndrome
Respiratory insufficiency, Pulmonary embolism, Abnormality of the menstrual cycle, Congestive hea... ORPHA:90308
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Bronchiectasis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadeno... OMIM:616100
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Pneumocystosis
Respiratory insufficiency, Exertional dyspnea, Interstitial pneumonitis, Hypoxemia, Pleural effus... ORPHA:723
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hepatic arteriovenous malformation, Brain abscess, Facial telangiectasia, Ischemic stroke, Sponta... OMIM:600376
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Widow's peak, Neutrophilia, Pneumonia OMIM:266265
Maternal Uniparental Disomy Of Chromosome 4
Spastic gait, Ataxia, Abnormal erythrocyte morphology, Dysmetria, Acanthocytosis ORPHA:96180
Pyoderma Gangrenosum
Myeloid leukemia, Myelodysplasia ORPHA:48104
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia OMIM:615966
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Aplasia/hypoplasia of the femur, Toe syndactyly, Flared iliac wing, Micr... OMIM:609945
Mixed Connective Tissue Disease
Pulmonary arterial hypertension, Leukopenia, Alopecia, Hemolytic anemia, Purpura, Pericarditis, O... ORPHA:809
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Rhinitis, B lymphocytopenia, Asthma, Sinusitis, Decreased proportion of memory B cells ORPHA:70593
Beemer-Ertbruggen Syndrome
Respiratory insufficiency, Increased bone mineral density, Thrombocytopenia ORPHA:1237
Monosomy 22
Hyperhidrosis, Sarcoma, Synophrys, Gonadal neoplasm, Schwannoma, Hypochromic microcytic anemia, H... ORPHA:96123
Mitochondrial Myopathy And Sideroblastic Anemia
Distichiasis, Anemia ORPHA:2598
Tatton-Brown-Rahman Syndrome
Myeloid leukemia, Neuroendocrine neoplasm, Supraventricular tachycardia with an accessory connect... ORPHA:404443
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Short long bone, Short ribs, Absent tibia, Short digit, Talipes equinovaru... OMIM:613091
Overlap Myositis
Pulmonary arterial hypertension, Leukopenia, Raynaud phenomenon, Elevated hepatic transaminase, H... ORPHA:206572
Orofaciodigital Syndrome X
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia OMIM:165590
Coproporphyria, Hereditary
Splenomegaly, Respiratory paralysis, Jaundice, Hypertension, Hepatomegaly, Tachycardia OMIM:121300
Immunodeficiency 47
Leukopenia, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrho... OMIM:300972
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Bronchiectasis, Asthma, Squamous cell carcinoma, Cerebral vasc... OMIM:243700
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Broad foot, Micrognathia, Metatarsal synostosis, Abnormal forearm bone morphology, Flat... ORPHA:93307
Sialidosis Type 2
Ataxia, Osteoporosis, Dyspnea, Hepatomegaly, Ascites, Splenomegaly, Abnormality of bone marrow ce... ORPHA:87876
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Ataxia, Cholecystitis, Impaired neutrophi... OMIM:613470
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Lymphopenia, Autoimmune thrombocytopenia, Ataxia, Autoimmune hemolyti... ORPHA:760
Hermansky-Pudlak Syndrome
Abnormality of thrombocytes, Neutropenia, Squamous cell carcinoma of the skin, Abnormal bleeding,... ORPHA:79430
Ophthalmomandibulomelic Dysplasia
Coxa valga, Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia OMIM:164900
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Thin bony cortex, Anemia, Cirrhosis, Respiratory failure, Elevated hep... OMIM:613658
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Abnormal bleeding, Lymphopenia ORPHA:1116
Gaucher Disease, Type Ii
Anemia, Recurrent aspiration pneumonia, Apnea, Cough, Hepatomegaly, Stridor, Thrombocytopenia, Sp... OMIM:230900
Maffucci Syndrome
Breast carcinoma, Astrocytoma, Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm o... ORPHA:163634
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Respiratory insufficiency, Splenomegaly, Leukocytosis OMIM:618042
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Alopecia totalis, Hypertrophic cardiomyopathy, Hyperventilation, Th... OMIM:618775
Spinocerebellar Ataxia, Autosomal Recessive 21
Gait ataxia, Hepatic fibrosis, Hepatic failure, Limb ataxia, Hepatic bridging fibrosis, Hepatomeg... OMIM:616719
Lathosterolosis
Bilobate gallbladder, Anisopoikilocytosis, Elevated hepatic transaminase, Hepatosplenomegaly, Int... OMIM:607330
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Recurrent sinusitis, Hepatosplenomegaly, Bone marrow hypocellulari... OMIM:615688
Idiopathic Pulmonary Hemosiderosis
Respiratory failure, Heart murmur, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Crackles, Res... ORPHA:99931
Dubowitz Syndrome
Lymphoma, Respiratory insufficiency, Anemia, Sparse scalp hair, Sparse lateral eyebrow, Asthma, A... ORPHA:235
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Abnormality of ... ORPHA:1414
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:608540
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Rhizomelia, Short long bone, Short ribs, Flat acetabular roof, Microretrognathia, Hy... OMIM:616300
Gaucher Disease Type 3
Pulmonary arterial hypertension, Anemia, Increased bone mineral density, Gait disturbance, Ataxia... ORPHA:77261
Hereditary Folate Malabsorption
Thrombocytopenia, Megaloblastic anemia, Pancytopenia, Eosinophilia ORPHA:90045
Beckwith-Wiedemann Syndrome
Hypothyroidism, Gonadoblastoma, Large intestinal polyposis, Hepatoblastoma, Hypertrophic cardiomy... ORPHA:116
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Hyperhidrosis, Dilated cardiomyopathy, Ataxia, Respiratory distress, H... OMIM:614299
Immunodeficiency 81
Petechiae, Impaired neutrophil chemotaxis, Abnormally low T cell receptor excision circle level, ... OMIM:619374
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Infantile Myofibromatosis
Fibroma, Benign neoplasm of the central nervous system, Sarcoma, Neoplasm of the pancreas, Gingiv... ORPHA:2591
Gaucher Disease, Perinatal Lethal
Anemia, Hepatic failure, Akinesia, Petechiae, Ascites, Purpura, Respiratory distress, Hepatosplen... OMIM:608013
Q Fever
Anemia, Abnormality of the liver, Granuloma, Hepatitis, Elevated hepatic transaminase, Purpura, R... ORPHA:781
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia, Inability to walk OMIM:616577
Vexas Syndrome
Myelodysplasia, Macrocytic anemia, Thrombocytopenia, Megakaryocyte dysplasia, Arteritis OMIM:301054
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemol... OMIM:235700
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Squamous cell carcinoma, Syncope, Respiratory distress, Recurrent pneu... ORPHA:60032
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Asthma, Hypoxemia, Pleural effusion, Crackles, Restrictive ventilatory defect,... ORPHA:2902
Adams-Oliver Syndrome
Pulmonary arterial hypertension, Leukopenia, Cirrhosis, Alopecia, Thrombocytopenia, Gastrointesti... ORPHA:974
Cholestasis, Progressive Familial Intrahepatic, 12
Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating aspar... OMIM:620010
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hypohidrosis, Elevated hepatic transaminase, Abnormal bleeding, Pancytopenia, Cholesta... OMIM:614576
Down Syndrome
Decreased fertility, Hypothyroidism, Acute megakaryocytic leukemia, Gait disturbance, Abnormality... ORPHA:870
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count, S... OMIM:618394
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Jaundice, Reticulocyt... OMIM:232800
Orofaciodigital Syndrome Vi
11 pairs of ribs, Preaxial hand polydactyly, Toe syndactyly, Preaxial foot polydactyly, Central Y... OMIM:277170
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... OMIM:206100
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Prolonged neonatal jaundice, Inability to walk, Petechiae, Vasculitis, Multiple g... OMIM:225750
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Neutropenia, Biliary tract abnormality, Cholangitis OMIM:209920
Trichothiodystrophy
Gait ataxia, Increased mean corpuscular hemoglobin concentration, Anemia, Sparse scalp hair, Tige... ORPHA:33364
Self-Improving Dystrophic Epidermolysis Bullosa
Anemia, Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma, Nail dystrophy ORPHA:79411
Sneddon Syndrome
Hypertension, Cerebral hemorrhage, Ischemic stroke, Lymphopenia OMIM:182410
Acquired Ichthyosis
Lymphoma, Sarcoma, Multiple myeloma, Neoplasm ORPHA:454
Fanconi Anemia, Complementation Group I
Hypothyroidism, Neutropenia, Decreased response to growth hormone stimulation test, Bone marrow h... OMIM:609053
Galactosemia I
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hemolytic anemia, Prematu... OMIM:230400
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Anhidrosis, Splenomegaly, Pancytopenia OMIM:614979
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Leukopenia, Macrocytic anemia, Reticulocytopenia OMIM:612528
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Legionnaires Disease
Hypotension, Respiratory insufficiency, Splenomegaly, Hepatitis, Jaundice, Ataxia, Lymphopenia, P... ORPHA:549
Retinoblastoma
Lymphoma, Retinoblastoma, Osteosarcoma, Vitreous hemorrhage, Leiomyosarcoma, Melanoma, Ewing sarc... ORPHA:790
Focal Segmental Glomerulosclerosis 1
Anemia, Hypertension OMIM:603278
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypothyroidism, Neutropenia, Hirsutism, Osteopenia OMIM:618005
Anti-Glomerular Basement Membrane Disease
Respiratory insufficiency, Anemia, Purpura, Cough, Vasculitis ORPHA:375
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia ORPHA:51208
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia, Osteopetrosis, Respiratory failure ORPHA:3240
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Jaund... OMIM:194380
Coach Syndrome 3
Anemia, Portal fibrosis, Ataxia OMIM:619113
Lujo Hemorrhagic Fever
Hypotension, Leukopenia, Hyperhidrosis, Myocarditis, Rhinitis, Fulminant hepatitis, Elevated hepa... ORPHA:319213
Tarp Syndrome
Apnea, Abnormal hair pattern, Extramedullary hematopoiesis, Thick eyebrow, Broad-based gait ORPHA:2886
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hyperparathyroidism, Bone cyst ORPHA:2668
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, Sparse scalp hair, Petechiae, B lymphocytopenia, Pancytopenia,... OMIM:620133
Patella Aplasia-Hypoplasia
Patellar hypoplasia, Patellar aplasia OMIM:168860
Dyskeratosis Congenita
Premature graying of hair, Neoplasm of the pancreas, Neoplasm, Bone marrow hypocellularity, Hepat... ORPHA:1775
Oslam Syndrome
Osteosarcoma, Anemia, Neoplasm OMIM:165660
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Asthma, Wheezing,... OMIM:610978
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Galactosemia Iii
Jaundice, Splenomegaly, Hepatomegaly OMIM:230350
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Immunodeficiency, Common Variable, 6
Enlarged kidney, Purpura, Hepatomegaly, Autoimmune thrombocytopenia OMIM:613496
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Petechiae, Amegakaryocytic thrombocytopenia, Purpura, Congenital thrombocytopenia, Aplastic anemi... OMIM:605432
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, B lymphocytopenia, Recurrent sinusitis, Recurrent pneumonia, Rectal abscess, Neut... OMIM:601495
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... ORPHA:70591
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Breast carcinoma, Anemia, Neoplasm of the nose, Stomach cancer, Enlarg... ORPHA:2869
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormality of bone marr... OMIM:610293
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Restrictive ventilatory defect, Reduced sperm motility, Splenomegaly OMIM:602271
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Pulmonary arterial hypertension, Leukopenia, Anemia, Thick hair, Inability to walk, Enlarged kidn... ORPHA:505248
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Choreoathetosis, Elevated hepatic transaminase, Ataxia, Thick eyebrow, Hypertrophic cardiomyopath... OMIM:615471
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal bleeding, Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Paroxysmal Nocturnal Hemoglobinuria
Leukopenia, Anemia, Pulmonary embolism, Hemolytic anemia, Impotence, Jaundice, Abnormal erythrocy... ORPHA:447
Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Choreoathetosis, Gait disturbance, Loss of ambulation, Osteopenia, Acanthocytosis ORPHA:157850
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Raynaud phenomenon, Purpura, Congestive heart failure, Hypertension, ... ORPHA:91139
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... OMIM:251880
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis, Sparse scalp hair, Pancytopenia, Nail dystrophy, Bone marrow hypocellularity, S... OMIM:224230
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Cerebral vasculitis, Hashimoto thyroiditis, Leukocytosis, Thrombocytopenia ORPHA:83601
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Respiratory distress, Osteolysis, Periostitis, Osteopenia, Hepatomegaly, Splenomega... OMIM:612852
Pyruvate Dehydrogenase Deficiency
Multiple lipomas, Osteolytic defects of the middle phalanx of the 4th toe, Choreoathetosis, Gait ... ORPHA:765
Wiskott-Aldrich Syndrome
Large vessel vasculitis, Recurrent sinusitis, Eosinophilia, Decreased proportion of CD4-positive ... OMIM:301000
Yellow Nail Syndrome
Pulmonary arterial hypertension, Rhinitis, Bronchiectasis, Yellow nails, Sarcoma, Biliary tract n... ORPHA:662
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, B lymphocytopenia OMIM:614069
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary arterial hypertension, Pulmonary embolism, Megaloblastic anemia, Neutropenia, Jaundice,... ORPHA:79282
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Aplasia/Hypoplasia of the thumb, Genu varum, Asymmetric radial dysplasia, R... OMIM:171480
Leigh Syndrome
Alopecia, Anemia, Hepatic failure, Neutropenia, Choreoathetosis, Frontal hirsutism, Congestive he... ORPHA:506
Fetal And Neonatal Alloimmune Thrombocytopenia
Petechiae, Abnormal bleeding, Purpura, Intracranial hemorrhage, Ecchymosis, Neonatal alloimmune t... ORPHA:853
Myopathy With Lactic Acidosis, Hereditary
Leukopenia, Anemia, Sideroblastic anemia, Palpitations, Difficulty walking, Dyspnea OMIM:255125
Diamond-Blackfan Anemia 1
Reticulocytopenia, Myelodysplasia, Congestive heart failure, Colon cancer, Thrombocytosis, Tricus... OMIM:105650
Severe Hemophilia A
Anemia, Persistent bleeding after trauma, Epidural hemorrhage, Intracranial hemorrhage, Bruising ... ORPHA:169802
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Ataxia, Splenomegaly, Macrocytic anemia, Cardiomyopathy OMIM:619046
Hypophosphatasia
Respiratory insufficiency, Anemia, Craniosynostosis, Emphysema ORPHA:436
Immunodeficiency, Common Variable, 2
Lymphoma, Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Lymphadenopathy, Follicular h... OMIM:240500
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy, Hemolytic anemia, Hepatomegaly ORPHA:56425
Osteogenesis Imperfecta, Type X
Genu valgum, Rhizomelia, Micrognathia, Micromelia, Short femur, Fibular bowing, Bowing of the lon... OMIM:613848
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy, Thrombocytopenia, Neutropenia, Megaloblastic anemia OMIM:277400
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Adrenal insufficiency, Tachycardia, Abnormal left ventricular functi... ORPHA:99827
Pseudo-Torch Syndrome 1
Petechiae, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Throm... OMIM:251290
Catastrophic Antiphospholipid Syndrome
Pulmonary arterial hypertension, Pulmonary embolism, Arterial occlusion, Transient ischemic attac... ORPHA:464343
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Gait disturbance, Hypertension ORPHA:1192
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Finger syndactyly, Patellar dislocation, Tibial torsion, Micrognathia, Hi... ORPHA:3320
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hypothyroidism, Cirrhosis, Hepatitis, Neutropenia in presence of anti-neutropil antibodies, Hyper... ORPHA:228426
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Pulmonic stenosis, Congestive heart failure, Respiratory distres... ORPHA:2414
Selective Igm Deficiency
Bronchiectasis, Recurrent sinusitis, Decreased proportion of CD4-positive T cells, Verrucae, Lymp... ORPHA:331235
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Congestive hear... OMIM:611126
Ogden Syndrome
Torsade de pointes, Premature atrial contractions, Thrombocytopenia, Enlarged kidney, Polycythemi... OMIM:300855
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia, Hypertension OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia, Hypertension OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia, Hypertension OMIM:612926
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom... OMIM:606719
Khan-Khan-Katsanis Syndrome
Anemia, Lymphopenia, Sleep apnea, Neutropenia, Highly arched eyebrow, Trichiasis, Tricuspid regur... OMIM:618460
Amme Complex
Elliptocytosis OMIM:300194
Mogs-Cdg
Hypothyroidism, Alopecia, Hypoventilation, Fair hair, Left ventricular hypertrophy, Respiratory d... ORPHA:79330
Roifman Syndrome
Noncompaction cardiomyopathy, Prominent eyelashes, Recurrent pneumonia, Lymphadenopathy, Eosinoph... OMIM:616651
Arima Syndrome
Anemia, Hepatic fibrosis, Cirrhosis, Hypertension, Ataxia, Hepatic steatosis, Dyspnea, Hepatomega... OMIM:243910
Porphyria, Congenital Erythropoietic
Alopecia, Hemolytic anemia, Jaundice, Hypertrichosis, Osteolysis, Absent eyebrow, Osteopenia, Hep... OMIM:263700
Cartilage-Hair Hypoplasia
Respiratory insufficiency, Sparse eyebrow, Anemia, Abnormality of the pancreas, Abnormal bone oss... ORPHA:175
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Hemolytic anemia, Prolonged neonatal jaundice, Normocytic anemia, Jaun... OMIM:615512
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hepatic steatosis, Pleural effusion, Hepatomegaly, ... OMIM:619573
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormality of the peritoneum ORPHA:2023
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Tachypnea OMIM:616414
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Crackles, Palpitations, Exertional dyspnea, Abnormality of ... ORPHA:563
Immunodeficiency 43
Reduced natural killer cell count, Bronchiectasis, Lung abscess, B lymphocytopenia OMIM:241600
Systemic Capillary Leak Syndrome
Hypotension, Multiple myeloma, Pericarditis, Pleural effusion, Cardiorespiratory arrest, Rhinorrh... ORPHA:188
Progressive Osseous Heteroplasia
Sarcoma, Ectopic ossification in muscle tissue ORPHA:2762
Alg8-Cdg
Anemia, Elevated hepatic transaminase, Ataxia, Thrombocytopenia, Ascites ORPHA:79325
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypothyroidism, Anemia, Pulmonary embolism, Thrombocytosis, Hepatomegaly, Iron deficiency anemia,... OMIM:226300
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Phocomelia, Aplasia/Hy... OMIM:276820
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Dysmetria, Thrombocytopenia, Athetosis, Cardiomyopathy OMIM:617710
Caffey Disease
Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowing OMIM:114000
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Elliptocytosis, Abnormal hair morphology ORPHA:86818
Brucellosis
Pericarditis, Pleural effusion, Hepatomegaly, Thrombocytopenia, Pneumonia, Splenomegaly, Hyperhid... ORPHA:1304
Zygomycosis
Brain abscess, Pneumothorax, Pericarditis, Osteolysis, Pleural effusion, Hematological neoplasm, ... ORPHA:73263
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Sudden cardiac death, Periportal fibrosis, Reduced left ventricular ejection fraction, Hepatocell... OMIM:201475
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Radioulnar synostosis, Microretrognathia, Abnormal pelvic girdle bone morpholo... ORPHA:1788
Neurofibromatosis Type 1
Spinal neurofibromas, Multiple lipomas, Astrocytoma, Urinary tract neoplasm, Neoplasm of the gast... ORPHA:636
Follicular Lymphoma
Lymphoma, Abnormality of the peritoneum, Pleural effusion, Lymphadenopathy, Mediastinal lymphaden... ORPHA:545
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Anemia, Hepatic fibrosis, Elevated hepatic transaminase, Congestive heart failure,... OMIM:615895
Vici Syndrome
Leukopenia, T lymphocytopenia, Albinism, Left ventricular hypertrophy, Congestive heart failure, ... OMIM:242840
Free Sialic Acid Storage Disease
Gait disturbance, Ataxia, Hepatomegaly, Ascites, Athetosis, Splenomegaly, Reduced bone mineral de... ORPHA:834
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia, Hypertension OMIM:612925
Stevens-Johnson Syndrome
Sudden cardiac death, Anemia, Elevated hepatic transaminase, Abnormality of neutrophils, Myocardi... ORPHA:36426
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Abnormality of the pancreas, Fine hair, Lymphopenia, White hair, Reduced bone mineral den... ORPHA:935
Amoebiasis Due To Entamoeba Histolytica
Anemia, Pleural empyema, Liver abscess, Elevated hepatic transaminase, Lung abscess, Congestive h... ORPHA:67
Diamond-Blackfan Anemia 21
Anemia, Horizontal eyebrow, Synophrys, Widow's peak, Erythroid hypoplasia, Aortic regurgitation, ... OMIM:620072
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hirsutism, Hepatomegaly, Primary amenorrhea, Splenomegaly OMIM:612526
Typhoid
Cardiac arrest, Ataxia, Epistaxis, Cough, Hepatomegaly, Arrhythmia, Gastrointestinal hemorrhage, ... ORPHA:99745
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Subconjunctival hemorrhage, Vasculitis in the skin, Recurrent pneumonia, Lymphaden... OMIM:617718
Farber Disease
Respiratory insufficiency, Hepatic fibrosis, Anemia, Hepatic failure, Elevated hepatic transamina... ORPHA:333
Thymic Aplasia
Hypothyroidism, T lymphocytopenia, Coombs-positive hemolytic anemia, Thyroiditis, Atypical or pro... ORPHA:83471
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... ORPHA:45452
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia, Hypertension OMIM:612924
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Anemia, Gastrointestinal telangiectasia, Premature graying of hair, Ataxia, Retinal telangiectasi... OMIM:612199
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia, Bronchiectasis, Sinusitis, Pneumonia OMIM:242860
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Elevated hepatic transaminase, Abnormal left ventricular function, Hirsutism, Hepatom... OMIM:301056
Nijmegen Breakage Syndrome
Lymphoma, Medulloblastoma, T lymphocytopenia, B lymphocytopenia, Glioma, Premature ovarian insuff... OMIM:251260
Cholestasis, Progressive Familial Intrahepatic, 10
Elevated circulating alanine aminotransferase concentration, Jaundice, Acholic stools, Portal fib... OMIM:619868
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Lymphopenia, Absent peripheral lymph nodes in presence of infection, Impaired ... OMIM:600802
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Anemia, Hypertrophic cardiomyopathy OMIM:620135
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Ductal carcinoma in situ, Juvenile type ovarian granulosa cell tumor, Sch... OMIM:619975
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Lymphopenia, Pleural effusion, Intest... ORPHA:90362
Complete Atrioventricular Septal Defect
Systolic heart murmur, Crackles, Hepatomegaly, Abnormal P wave, Lethargy, Wheezing, Hyperhidrosis... ORPHA:1329
Retinoblastoma
Lymphoma, Retinoblastoma, Vitreous hemorrhage, Pinealoma, Ewing sarcoma, Osteosarcoma, Leukemia OMIM:180200
Mosaic Variegated Aneuploidy Syndrome
Nephroblastoma, Hypothyroidism, Stomach cancer, Myelodysplasia, Vaginal neoplasm, Acute lymphobla... ORPHA:1052
Combined Oxidative Phosphorylation Deficiency 14
Increased hepatic glycogen content, Thrombocytopenia, Anemia, Elevated hepatic iron concentration OMIM:614946
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... ORPHA:35078
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Ataxia, Hepatomegaly, Splenomegaly, Th... OMIM:613489
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Interface hepatitis, Lymphopenia, Impaired lymphocyte transformation wi... OMIM:243150
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Chol... OMIM:616828
Noonan Syndrome 2
Sparse eyebrow, Curly hair, Leukemia, Mitral stenosis, Hypertrophic cardiomyopathy, Low posterior... OMIM:605275
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Wheezing, Epistaxis, Rickets, Osteopenia, Hepatomegaly, Cholelithiasis, Intr... OMIM:211600
Marburg Hemorrhagic Fever
Hypotension, Elevated hepatic transaminase, Reticulocytosis, Pericarditis, Shock, Capillary leak,... ORPHA:99826
Fanconi Anemia, Complementation Group F
Leukopenia, Anemia, Decreased response to growth hormone stimulation test, Bone marrow hypocellul... OMIM:603467
Dyggve-Melchior-Clausen Disease
Broad foot, Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Talipes equinovarus,... OMIM:223800
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Neonatal respiratory distress, Nail dystrophy, Anemia, Scarring alopecia of scalp OMIM:226670
Muckle-Wells Syndrome
Anemia, Restrictive ventilatory defect, Hepatomegaly, Splenomegaly, Vasculitis ORPHA:575
Pachydermoperiostosis
Hyperhidrosis, Anemia, Abnormal cortical bone morphology, Neoplasm of the skin, Osteolysis, Abnor... ORPHA:2796
Joubert Syndrome 33
Apnea, Splenomegaly, Ataxia OMIM:617767
Alveolar Echinococcosis
Pancreatic cysts, Anemia, Biliary cirrhosis, Hepatic cysts, Liver abscess, Abnormal spleen morpho... ORPHA:284
Interstitial Lung And Liver Disease
Respiratory insufficiency, Hypothyroidism, Anemia, Hepatic fibrosis, Elevated circulating alanine... OMIM:615486
Hereditary Coproporphyria
Respiratory insufficiency, Anemia, Hepatocellular carcinoma, Extension of hair growth on temples ... ORPHA:79273
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal T-wave, Hepatic failure, Hypocapnia, Sinus tachycardia, Abnormal pulse pres... ORPHA:466650
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse body hair, Sparse eyebrow, Sparse scalp hair, Jaundice, Scarring alopecia of scalp, Choles... ORPHA:59303
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Ataxia, Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Dermotrichic Syndrome
Anemia, Hypohidrosis, Nail dystrophy ORPHA:99688
Hurler-Scheie Syndrome
Rhinitis, Hepatomegaly, Abnormality of the tonsils, Generalized hirsutism, Splenomegaly, Cardiomy... ORPHA:93476
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Anemia, Hepatic fibrosis, Cirrhosis, Oligomenorrhea, Elevated hepatic tra... ORPHA:264580
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Jaundice, Elevated... OMIM:619658
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... OMIM:615607
Bazex Syndrome
Anemia, Yellow nails, Lung adenocarcinoma, Neoplasm, Liposarcoma, Nail dystrophy ORPHA:166113
Whipple Disease
Hypotension, Hypothyroidism, Anemia, Respiratory insufficiency, Ataxia, Erectile dysfunction, Per... ORPHA:3452
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Synophrys, Lymphopenia ORPHA:391307
Leukemia, Chronic Myeloid
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia OMIM:608232
Bone Dysplasia, Lethal Holmgren Type
Respiratory insufficiency, Hypertrophic cardiomyopathy, Anemia, Hepatomegaly ORPHA:1842
Myopathy With Extrapyramidal Signs
Choreoathetosis, Elevated hepatic transaminase, Ataxia, Difficulty walking, Leukocytosis, Hepatom... OMIM:615673
17Q11 Microdeletion Syndrome
Myelodysplasia, Plexiform neurofibroma, Thickened cortex of long bones, Hypertrophic cardiomyopat... ORPHA:97685
Hydatidiform Mole
Anemia, Menometrorrhagia, Hyperthyroidism ORPHA:99927
Hellp Syndrome
Hypotension, Hemolytic anemia, Cerebral hemorrhage, Microangiopathic hemolytic anemia, Elevated h... ORPHA:244242
Bone Marrow Failure Syndrome 5
Anemia, Hypogonadism, Erythroid hypoplasia, Testicular atrophy, Nail dystrophy, Pure red cell apl... OMIM:618165
Albers-Schönberg Osteopetrosis
Anemia, Abnormal leukocyte morphology, Generalized osteosclerosis ORPHA:53
Senior-Loken Syndrome 4
Anemia OMIM:606996
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Cerebellar hemorrhage, Elevated hepatic transaminase, Congestive heart fail... ORPHA:99901
Drug-Induced Autoimmune Hemolytic Anemia
Exertional dyspnea, Congestive heart failure, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly ORPHA:90037
Braddock-Carey Syndrome 1
Thrombocytopenia, Curly hair, Sparse hair OMIM:619980
Immunodeficiency 31C
Hypothyroidism, Bronchiectasis, Lymphopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:614162
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Hemorrhagic Fever-Renal Syndrome
Hypotension, Elevated hepatic transaminase, Shock, Pleural effusion, Palpitations, Capillary leak... ORPHA:340
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Cirrhosis, Elevated jugular venous pressure, Infertility, Cholangiocarcinoma, Hep... ORPHA:465508
Eiken Syndrome
Broad femoral neck, Pseudoepiphyses, Long hallux, Narrow pelvis bone, Flat acetabular roof, Clino... OMIM:600002
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the pancreas, Cholestatic liver disease, Asthma, Splenic cyst,... ORPHA:400
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Fine hair, Hepatosplenomegaly, Juvenile myelomonocytic leukemia, Mitral regurgitation, Chylothora... OMIM:613563
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Trapezoidal distal femoral condyles, Metaphyseal irregularity, Genu... OMIM:307800
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Abnormality of the thymus, Absent tonsils, Abnormal... OMIM:611926
Takayasu Arteritis
Pulmonary arterial hypertension, Hyperhidrosis, Anemia, Cerebral ischemia, Hypertension, Hypertro... ORPHA:3287
Intellectual Developmental Disorder, Autosomal Dominant 54
Inability to walk, Anhidrosis, Ataxia, Apnea, Neutropenia, Sparse hair, Hyperventilation OMIM:617799
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia, Abnormal granulocytopoietic cell morphology OMIM:612376
Atelosteogenesis, Type Iii
Rhizomelia, Radial bowing, Tombstone-shaped proximal phalanges, Flat acetabular roof, Micrognathi... OMIM:108721
Mosaic Variegated Aneuploidy Syndrome 1
Nephroblastoma, Pulmonic stenosis, Leukemia, Embryonal rhabdomyosarcoma OMIM:257300
Acquired Von Willebrand Syndrome
Hypotension, Persistent bleeding after trauma, Subcutaneous hemorrhage, Normocytic anemia, Intrac... ORPHA:99147
Niemann-Pick Disease, Type C2
Respiratory insufficiency, Sea-blue histiocytosis, Respiratory failure, Jaundice, Ataxia, Fetal a... OMIM:607625
Fanconi Anemia, Complementation Group S
Breast carcinoma, Anemia, Long eyelashes, Ataxia, Ovarian carcinoma, Sparse hair, Low anterior ha... OMIM:617883
Multiple Carboxylase Deficiency
Alopecia, Respiratory distress, Ataxia, Lethargy, Tachypnea ORPHA:148
Lead Poisoning
Abnormal T cell morphology, Anemia, Decreased female libido, Asthma, Infertility, Abnormality of ... ORPHA:330015
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Thyroiditis, Laryngeal papilloma, Corneal neovascularization, Autoimmune hemol... OMIM:617388
Anemia, Sideroblastic, 1
Hypochromic microcytic anemia, Anemia of inadequate production, Sideroblastic anemia, Macrocytic ... OMIM:300751
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Shigellosis
Hepatic failure, Myocarditis, Microangiopathic hemolytic anemia, Peritonitis, Purpura, Hypovolemi... ORPHA:810
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Intrahepatic biliary atresia, Jaundice, Elevated hepatic transaminase, Abnormal bleeding, Giant c... OMIM:208085
Omodysplasia 1
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Rhizomelia, M... OMIM:258315
Ivic Syndrome
Thrombocytopenia, Leukocytosis, Arrhythmia ORPHA:2307
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Anemia, Respiratory failure, Exertional dyspnea, Truncal ataxia, Respiratory distress, Ataxia, Hy... OMIM:220110
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Aplasia/Hypoplasia of the fibula, Hypoplastic pubic bone, Mesomelic/rhiz... ORPHA:2839
Herpes Simplex Virus Encephalitis
Respiratory failure requiring assisted ventilation, Neutrophilia, Leukocytosis ORPHA:1930
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension, Alopecia, Decreased response to growth hormone stimulation test, Bronchiectasis, Thy... ORPHA:293978
Czech Dysplasia
Short toe, Short femoral neck, Coxa vara, Short metacarpal, Flat capital femoral epiphysis, Narro... OMIM:609162
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Amyloidosis, Familial Visceral
Hypertension, Splenomegaly, Cholestasis, Hepatomegaly OMIM:105200
Lesch-Nyhan Syndrome
Anemia ORPHA:510
Smith-Kingsmore Syndrome
Thrombocytopenia, Curly hair OMIM:616638
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Anemia, Hepatic fibrosis, Cirrhosis, Oligomenorrhea, Elevated hepatic tra... ORPHA:79240
Familial Benign Copper Deficiency
Early balding, Anemia ORPHA:1551
Lysinuric Protein Intolerance
Respiratory insufficiency, Leukopenia, Anemia, Cirrhosis, Hepatic failure, Decreased response to ... ORPHA:470
Zika Virus Disease
Thrombocytopenia, Subcutaneous hemorrhage ORPHA:448237
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Hypoplastic pubic bone, Short long bone, Short ribs, Micrognathia, Preaxial polydact... OMIM:617925
Niemann-Pick Disease, Type C1
Gait ataxia, Sea-blue histiocytosis, Ataxia, Fetal ascites, Bone-marrow foam cells, Hepatomegaly,... OMIM:257220
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg... OMIM:214900
Microphthalmia With Limb Anomalies
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Hip dislocation, M... OMIM:206920
Peripheral Primitive Neuroectodermal Tumor
Anemia, Pelvic mass, Jaundice, Neoplasm of the pancreas, Abnormal bleeding, Spinal cord tumor, Ne... ORPHA:370348
Legius Syndrome
Nephroblastoma, Multiple lipomas, Ovarian neoplasm, Paroxysmal atrial tachycardia, Neoplasm of th... ORPHA:137605
Joubert Syndrome 7
Neonatal breathing dysregulation, Episodic tachypnea, Ataxia, Central apnea, Tachypnea OMIM:611560
Neuroendocrine Tumor Of Stomach
Hypotension, Chronic noninfectious lymphadenopathy, Hepatic failure, Facial telangiectasia, Cardi... ORPHA:100075
Orthostatic Hypotension 2
Orthostatic hypotension, Anemia OMIM:618182
Hyperparathyroidism, Transient Neonatal
Short long bone, Short ribs, Femoral bowing, Short femur, Fractured rib, Metaphyseal spurs OMIM:618188
Macrocephaly/Autism Syndrome
Coarse hair, Splenomegaly, Lymphopenia, Hepatomegaly OMIM:605309
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Anemia, Exertional dyspnea, Diffuse hepatic steatosis, Gait disturbance, Ataxia, Hypertrophic car... ORPHA:436271
Neuroblastoma, Susceptibility To, 1
Anemia, Hypertension, Ataxia, Ganglioneuroma, Neuroblastoma, Abdominal mass, Ganglioneuroblastoma OMIM:256700
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Hepatitis, Lymphocytosis, Cardiac arrest, Thyroiditis, Elevated hepatic transaminase... ORPHA:139402
3-Methylglutaconic Aciduria, Type Viii
Respiratory failure, Jaundice, Apnea, Hypopnea, Respiratory arrest, Neutropenia, Bradycardia OMIM:617248
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Attrv122I Amyloidosis
Anemia, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Lef... ORPHA:85451
Psoriasis 14, Pustular
Neutrophilia, Nail dystrophy, Leukocytosis, Cholangitis OMIM:614204
Aicardi-Goutieres Syndrome 7
Hypothyroidism, Anemia, Hemolytic anemia, Hepatitis, Hypertension, Pancytopenia, Generalized lymp... OMIM:615846
Acute Lung Injury
Hypoxemia, Respiratory distress, Diffuse alveolar hemorrhage, Shock, Acute pancreatitis, Dyspnea,... ORPHA:178320
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the mandible, Femoral bowing, Metaphyseal chondrodysplasia, Fibular bowing,... ORPHA:85165
Sarcoidosis
Abnormal lymph node morphology, Hypothyroidism, Pneumothorax, Bronchiectasis, Heart block, Pleura... ORPHA:797
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Resp... ORPHA:264675
Gm1-Gangliosidosis, Type Ii
Thin bony cortex, Sea-blue histiocytosis, Gait disturbance, Ataxia, Hepatomegaly, Splenomegaly OMIM:230600
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly OMIM:617068
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Episodic tachypnea, Jaundice, Elevated hepatic transaminase, Dilated cardiomyopathy, Respiratory ... ORPHA:26793
Wilson Disease
Anemia, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hemolytic anemia,... OMIM:277900
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
Syndromic Diarrhea
Hypothyroidism, Splenomegaly, Hepatic fibrosis, Hypoplasia of the thymus, Abnormality of the live... ORPHA:84064
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Atypical Rett Syndrome
Gait ataxia, Inability to walk, Episodic tachypnea, Gait disturbance, Loss of ambulation, Abnorma... ORPHA:3095
Cholesteryl Ester Storage Disease
Hepatic failure, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly ORPHA:75234
Tangier Disease
Anemia, Left ventricular hypertrophy, Hepatosplenomegaly, Orange discolored tonsils, Chronic noni... ORPHA:31150
Juvenile Xanthogranuloma
Hyphema, Myeloproliferative disorder ORPHA:158000
Gaucher Disease
Pulmonary arterial hypertension, Respiratory insufficiency, Anemia, Cirrhosis, Hepatitis, Increas... ORPHA:355
Primary Sjögren Syndrome
Biliary cirrhosis, Chronic active hepatitis, Airway obstruction, Parotitis, Lymphocytic interstit... ORPHA:289390
Pyknoachondrogenesis
Short long bone, Short ribs, Short iliac bones, Aplastic pubic bones, Hypoplastic ischia, Abnorma... ORPHA:3003
Glycogen Storage Disease Xii
Anemia, Elevated circulating alanine aminotransferase concentration, Normocytic anemia, Jaundice,... OMIM:611881
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Pneumothorax, Bronchiectasis, Hypoxemia, Emphysema, Pleural effu... OMIM:612387
Chronic Granulomatous Disease
Liver abscess, Chronic pulmonary obstruction, Abnormality of neutrophils, Sinusitis, Hepatomegaly... ORPHA:379
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Hepatic fibrosis, Elevated circulating alanine aminotransferas... ORPHA:53035
Mucopolysaccharidosis, Type Iiib
Synophrys, Asymmetric septal hypertrophy, Dense calvaria, Hirsutism, Hepatomegaly, Coarse hair, C... OMIM:252920
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Cirrhosis, Oligomenorrhea, Hepatocellular carcinoma, El... ORPHA:370
Noonan Syndrome 4
High anterior hairline, Sparse eyebrow, Curly hair, Abnormal bleeding, Bruising susceptibility, H... OMIM:610733
Carney Triad
Anemia, Leiomyosarcoma, Hypertension, Pheochromocytoma, Gastrointestinal stroma tumor, Lymphadeno... ORPHA:139411
Aicardi-Goutières Syndrome
Hypothyroidism, Chronic lymphatic leukemia, Raynaud phenomenon, Elevated hepatic transaminase, He... ORPHA:51
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Bruising susceptibility, Osteopenia, Coarse hair, Arterial rupture, Thrombocytopenia OMIM:612394
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Osteomalacia, He... OMIM:619381
Glycogen Storage Disease Ic
Pulmonary arterial hypertension, Spider hemangioma, Chronic pancreatitis, Hepatocellular carcinom... OMIM:232240
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lymphadenopathy, Leukocytosis, Increased proportion of CD4-positive T cells, Vascul... OMIM:617099
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis OMIM:120100
Congenitally Uncorrected Transposition Of The Great Arteries
Hyperhidrosis, Left ventricular outflow tract obstruction, Cardiac shunt, Heart murmur, Abnormali... ORPHA:860
Nephrotic Syndrome, Type 14
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Ataxia, Lymphopenia OMIM:617575
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Delayed ossification of carpal bones, Laryngotracheomalacia, Osteopenia, Congenital hypothyroidis... OMIM:271510
Copper Deficiency, Familial Benign
Early balding, Anemia, Curly hair OMIM:121270
Cohen Syndrome
Neutropenia, Long eyelashes, Abnormal eyelash morphology, Thick eyebrow, Low anterior hairline, T... ORPHA:193
Coronary Arterial Fistula
Pulmonary arterial hypertension, Systolic heart murmur, Exertional dyspnea, Abnormal EKG, Elevate... ORPHA:2041
Autoimmune Polyendocrinopathy Type 4
Thymoma, Leukopenia, Biliary cirrhosis, Alopecia, Non-caseating epithelioid cell granulomatosis, ... ORPHA:227990
Al Amyloidosis
Anemia, Howell-Jolly bodies, Abnormality of the liver, Reduced left ventricular ejection fraction... ORPHA:85443
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatosplenomegaly, Hepatoblastoma, Thrombocytopenia, Spontaneous pneumothora... ORPHA:731
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia, Decreased circulating cortisol level OMIM:618838
Muckle-Wells Syndrome
Leukocytosis OMIM:191900
Coenzyme Q10 Deficiency, Primary, 1
Anemia, Hepatic failure, Ataxia, Pancytopenia, Hypertrophic cardiomyopathy, Loss of ambulation, H... OMIM:607426
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Micrognathia, Lower limb undergrowth, Abnormality of the lower limb, Abnormality o... ORPHA:3035
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Hypocomplementemic Urticarial Vasculitis
Lymphoma, Small vessel vasculitis, Ataxia, Emphysema, Pleural effusion, Lymphadenopathy, Airway o... ORPHA:36412
Scrub Typhus
Hypotension, Hyperhidrosis, Abnormal bleeding, Lymphadenopathy, Restrictive ventilatory defect, D... ORPHA:83317
Ellis Van Creveld Syndrome
Emphysema, Abnormal hair quantity, Abnormal hair morphology, Acute leukemia, Abnormality of bone ... ORPHA:289
Fanconi Anemia, Complementation Group B
Aplastic anemia, Thrombocytopenia, Hypergonadotropic hypogonadism, Hypogonadism OMIM:300514
Autoimmune Polyendocrinopathy Type 3
Autoimmune hypoparathyroidism, Leukopenia, Biliary cirrhosis, Thymoma, Non-caseating epithelioid ... ORPHA:227982
Acromelic Frontonasal Dysostosis
Short tibia, Polydactyly, Patellar hypoplasia, Preaxial foot polydactyly, Syndactyly, Preaxial po... OMIM:603671
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Acute lymphoblastic leukemia, Fine hair, Hypoplastic nipples, Sparse hair, Broad-based gait OMIM:280000
Rift Valley Fever
Retinal hemorrhage, Anemia, Hepatitis, Jaundice, Elevated hepatic transaminase, Abnormal bleeding... ORPHA:319251
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Left ventricular hypertrophy, Cholesteatoma, Osteopenia, Giant platelets, Thrombocytopenia OMIM:611209
Primary Sclerosing Cholangitis
Spider hemangioma, Hepatocellular carcinoma, Elevated hepatic transaminase, Cholangiocarcinoma, H... ORPHA:171
Recessive Dystrophic Epidermolysis Bullosa Inversa
Anemia, Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma, Nail dystrophy ORPHA:79409
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Gait ataxia, Pleural effusion, Unsteady gait, Thrombocytopenia, Normochromic anemia OMIM:254900
Dubowitz Syndrome
Lymphoma, Sparse scalp hair, Sparse lateral eyebrow, Acute lymphoblastic leukemia, Aplastic anemi... OMIM:223370
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, Left ventricula... ORPHA:90065
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Hepatic cysts, Delayed ossification of carpal bones, Lymphopenia, Eosinophilia OMIM:617425
Orofaciodigital Syndrome Type 2
Short tibia, Broad first metatarsal, Mesomelic leg shortening, Finger syndactyly, Preaxial foot p... ORPHA:2751
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Anemia, Dysdiadochokinesis, Gait disturbance, Dilated cardiomyopathy, Lymphopenia... OMIM:616541
Thrombocytopenia 3
Epistaxis, Thrombocytopenia, Decreased mean platelet volume, Petechiae OMIM:273900
Neurodegeneration With Brain Iron Accumulation 1
Acanthocytosis, Akinesia, Choreoathetosis, Gait disturbance, Ataxia, Bradykinesia OMIM:234200
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Long eyelashes, Decreased hemoglobin concentration, Hepatomegaly, Neonatal respiratory distress, ... OMIM:619005
Citrullinemia Type I
Hepatic failure, Lethargy, Ataxia, Tachypnea ORPHA:247525
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Splenomegaly, Hepatomegaly OMIM:261750
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Abnormal T cell subset distribution, Reduced natural killer cell count, B lymphocytopenia, Recurr... ORPHA:221139
Gm1-Gangliosidosis, Type I
Congestive heart failure, Dilated cardiomyopathy, Hypertrichosis, Hypertrophic cardiomyopathy, He... OMIM:230500
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Elliptocytosis, Anemia, Synophrys OMIM:300990
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Preaxial hand polydactyly, Short long bone, Short ribs,... OMIM:263520
Mucopolysaccharidosis, Type Iiia
Synophrys, Asymmetric septal hypertrophy, Dense calvaria, Hirsutism, Hepatomegaly, Coarse hair, S... OMIM:252900
Cowden Syndrome 1
Hypothyroidism, Breast carcinoma, Hyperthyroidism, Thyroiditis, Fibroadenoma of the breast, Lymph... OMIM:158350
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Hepatomegaly OMIM:604273
Noonan Syndrome 1
Hypogonadism, Amegakaryocytic thrombocytopenia, Abnormal bleeding, Bruising susceptibility, Wooll... OMIM:163950
Catel-Manzke Syndrome
Short toe, Genu valgum, Short metacarpal, Micrognathia, Camptodactyly, Clinodactyly of the 5th fi... OMIM:616145
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia OMIM:613092
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypothyroidism, Hepatitis, Hypersplenism, Pancytopenia, Chronic lung disease, Hashimoto thyroidit... OMIM:613385
Cardiocranial Syndrome, Pfeiffer Type
Sagittal craniosynostosis, Sparse hair, Abnormal hair whorl, Episodic tachypnea ORPHA:2872
Familial Mediterranean Fever
Neutrophilia, Pericarditis, Pleural effusion, Leukocytosis, Hepatomegaly, Peritonitis, Orchitis, ... OMIM:249100
Juvenile Neuronal Ceroid Lipofuscinosis
Hyperhidrosis, Aspiration pneumonia, Episodic tachypnea, Apnea, Loss of ambulation, Tachycardia ORPHA:79264
X-Linked Intellectual Disability, Nascimento Type
Pulmonary arterial hypertension, Mitral stenosis, Synophrys, Lumbar hypertrichosis, Recurrent cut... ORPHA:163956
Chime Syndrome
Osteolysis, Acute leukemia, Sparse hair, Fine hair ORPHA:3474
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, ... ORPHA:96334
Aredyld Syndrome
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Craniofacial hyperostosis, Hepatomegaly, Ref... ORPHA:1133
Neutral Lipid Storage Disease With Ichthyosis
Alopecia, Abnormal granulocyte morphology, Elevated hepatic transaminase, Ataxia, Hepatic steatos... ORPHA:98907
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Anemia, Hypogonadism, Petechiae, Purpura, Congestive heart failur... ORPHA:85450
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Anemia, Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma, Nail dystrophy ORPHA:79410
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Lymphoma, Leukonychia, Pleural effusion, Chylothorax, Abnormal eyelash morphology, Abnormal hair ... ORPHA:2526
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatic failure, Aspiration pneumonia, Truncal ataxia, Ataxia, Micronodular cirrhosis, Hepatomega... OMIM:301072
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, T lymphocytopenia, Inability to walk, Decreased proportion of CD8-positive T c... ORPHA:508533
Solitary Rectal Ulcer Syndrome
Anemia, Hematochezia ORPHA:209964
Intellectual Developmental Disorder, Autosomal Dominant 53
Genu valgum, Short femur OMIM:617798
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Aceruloplasminemia
Anemia, Ataxia OMIM:604290
Noonan Syndrome 3
Sagittal craniosynostosis, Bruising susceptibility, Hypertrophic cardiomyopathy, Left unilambdoid... OMIM:609942
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, T lymphocytopenia, Abnormal B cell morphol... OMIM:618223
Fanconi Anemia, Complementation Group P
Squamous cell carcinoma, Anemia, Pancytopenia OMIM:613951
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Anemia, Hepatic fibrosis, Hemolytic anemia, Elevated hepatic transaminase, Left v... OMIM:619487
Isolated Sedoheptulokinase Deficiency
Anemia, Hepatitis, Neonatal asphyxia, Hypochromic microcytic anemia, Cholestasis, Cholestatic liv... ORPHA:440713
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Anemia, Osteolysis, Craniofacial osteosclerosis, Hyperostosis, Vasculitis ORPHA:324964
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Mitral regurgitation, Abnormal hair pattern, Increased mean corpuscular v... ORPHA:261250
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Nail dystrophy, Bone marrow hypocellularity OMIM:615190
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Cardiomegaly, Hypertension, Tachypnea OMIM:613320
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pulmonary arterial hypertension, Anemia, Hepatic fibrosis, Spontaneous, recurrent epistaxis, Limb... ORPHA:2072
Schinzel-Giedion Syndrome
Central hypothyroidism, Nephroblastoma, Myeloid leukemia, Ependymoma, Generalized hypertrichosis,... ORPHA:798
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... OMIM:619849
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Hyperhidrosis, Ventilator dependence with inability to wean, Respiratory failure, Inspiratory str... OMIM:604320
Methionine Malabsorption Syndrome
White hair, Tachypnea OMIM:250900
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Hip dislocation, Short femur, Limb undergrowth, Bifid first metacarpal, Delayed epi... OMIM:210710
Hyper-Igd Syndrome
Lymphadenitis, Renal angiomyolipoma, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Leukocyto... OMIM:260920
Infant Acute Respiratory Distress Syndrome
Hypotension, Cardiac arrest, Nasal flaring, Hypoxemia, Respiratory failure, Pneumonia, Bradycardi... ORPHA:70587
Yellow Fever
Elevated circulating alanine aminotransferase concentration, Pancreatic hyperplasia, Reduced left... ORPHA:99829
Thrombocytopenia 1
Petechiae, Bruising susceptibility, Epistaxis, Congenital thrombocytopenia, Decreased mean platel... OMIM:313900
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic... OMIM:607765
Camurati-Engelmann Disease
Leukopenia, Anemia, Hypogonadism, Cortical thickening of long bone diaphyses, Ataxia, Hypertrophi... ORPHA:1328
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure, Cough, Respiratory distress, Tachypnea OMIM:263000
Insulin-Resistance Syndrome Type B
Lymphoma, Leukopenia, Biliary cirrhosis, Alopecia, Enlarged polycystic ovaries, Multiple myeloma,... ORPHA:2298
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:619183
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Osteopetrosis, Splenomegaly, Hepatomegaly OMIM:618541
Kenny-Caffey Syndrome, Type 1
Anemia, Congenital hypoparathyroidism, Decreased skull ossification, Calvarial osteosclerosis OMIM:244460
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Decreased proportion of CD4-positive helper... ORPHA:66628
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Duodenal polyposis, Anemia, Multiple gastric polyps, Abnormal bleeding, Small intestinal polyposi... ORPHA:329971
Osteopetrosis, Autosomal Recessive 7
Anemia, Abnormal trabecular bone morphology, Recurrent pneumonia, Hepatomegaly, Osteopetrosis, Sp... OMIM:612301
Leukocyte Adhesion Deficiency Type Ii
Anemia, Broad eyebrow, Neutrophilia, Long eyelashes, Ataxia, Impaired tandem gait, Recurrent pneu... ORPHA:99843
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tricuspid regurgitation, Reduced left ventricular ejection fraction, Aortic regurgitation, Hypert... OMIM:616501
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... OMIM:602347
Vipoma
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Neoplasm of the liver, Incr... ORPHA:97282
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Anemia, Hepatomegaly OMIM:246450
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Anemia, Gastrointestinal carcinoma, Xerostomia, Hamartomatous polyposis, Hematochezia, ... OMIM:175500
Joubert Syndrome 23
Apnea, Tachypnea OMIM:616490
Chronic Pneumonitis Of Infancy
Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress, Cough, M... ORPHA:91359
Mucopolysaccharidosis, Type Iiic
Synophrys, Asymmetric septal hypertrophy, Dense calvaria, Hypertrichosis, Hirsutism, Hepatomegaly... OMIM:252930
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Anemia, Microvesicular hepatic steatosis, Asthma, Portal fibrosis, Cholestasis,... OMIM:619377
Bile Acid Synthesis Defect, Congenital, 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... OMIM:613812
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Splenomegaly, Secondary amenorrhea, Oligomenorrhea, Congestive heart failure, Hyperten... ORPHA:79083
Joubert Syndrome 9
Apnea, Hepatic fibrosis, Episodic tachypnea OMIM:612285
Rubinstein-Taybi Syndrome 1
Frontal upsweep of hair, Broad eyebrow, Frontal hirsutism, Capillary hemangioma, Respiratory dist... OMIM:180849
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Decreased proportion of CD4-positive helper... ORPHA:179494
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Airway obstruction, Palpitations, Abnormal P wave, Tricuspid regurgitation... ORPHA:99106
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
American Trypanosomiasis
Congestive heart failure, Lymphadenopathy, Dyspnea, Cough, Hepatomegaly, Arrhythmia, Myocarditis,... ORPHA:3386
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Decreased response to growth hormone stimulation test, Prostatitis, Enteroviral hepatitis, Absent... OMIM:307200
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory insufficiency, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Congestive ... ORPHA:367
Hemochromatosis, Type 5
Anemia, Elevated hepatic iron concentration OMIM:615517
Fabry Disease
Hypohidrosis, Anemia, Transient ischemic attack, Left ventricular hypertrophy, Angina pectoris, C... OMIM:301500
Congenital Disorder Of Glycosylation, Type Iiw
Anemia, Elevated circulating alanine aminotransferase concentration, Prolonged neonatal jaundice,... OMIM:619525
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Irregular menstruation, Alopecia, Hyperthyroidism, Sarcoma, Abnormality of the menstrual cycle, N... ORPHA:457059
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Dyspnea, Respiratory distress, Tachypnea OMIM:267450
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Short foot, Small hand, Short long bone, Short ribs, Rhizomelia, Narro... OMIM:228520
Nephronophthisis 19
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... OMIM:616217
Goodpasture Syndrome
Anemia, Pulmonary hemorrhage, Exertional dyspnea, Crackles, Restrictive ventilatory defect, Cough... OMIM:233450
Tyrosinemia, Type I
Anemia, Cirrhosis, Hepatic failure, Enlarged kidney, Elevated hepatic transaminase, Hepatocellula... OMIM:276700
Hereditary Mixed Polyposis Syndrome
Juvenile colonic polyposis, Colorectal polyposis, Neoplasm of the gastrointestinal tract, Thyroid... ORPHA:157794
Joubert Syndrome 30
Apnea, Tachypnea OMIM:617622
Joubert Syndrome 3
Neonatal breathing dysregulation, Episodic tachypnea, Ataxia, Central apnea, Highly arched eyebrow OMIM:608629
Hereditary Chronic Pancreatitis
Recurrent pancreatitis, Jaundice, Pancreatic calcification, Leukocytosis ORPHA:676
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Dysmetria, Difficulty walking, Thrombocytopenia, Athetosis, Cardiomyopathy ORPHA:572798
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Hypertrophic cardiomyopathy, Anemia, Decreased circulating cortisol level OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Anemia, Decreased circulating cortisol level, Cardiomyopathy OMIM:618839
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Elevated hepatic transaminase, Hypoxemia... ORPHA:542323
Galactokinase Deficiency
Premature ovarian insufficiency, Hepatosplenomegaly, Hypergonadotropic hypogonadism, Hepatomegaly... ORPHA:79237
Acute Liver Failure
Hypotension, Hypocapnia, Hepatocellular necrosis, Hepatic necrosis, Jaundice, Hepatitis, Elevated... ORPHA:90062
Combined Oxidative Phosphorylation Deficiency 55
Thrombocytopenia, Hypophosphatemic rickets, Anemia OMIM:619743
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Broad eyebrow, Sacral hypertrichosis, Thrombocytopenia, Highly arched eyebrow ORPHA:457351
Acro-Renal-Mandibular Syndrome
Finger syndactyly, Hypoplasia of the radius, Micrognathia, Hip dislocation, Hypoplasia of the uln... ORPHA:958
Hardikar Syndrome
Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Hepatomegaly, Decreased l... OMIM:301068
Primary Pulmonary Hypoplasia
Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Apnea, Restrictive ventilatory defect, Ne... ORPHA:2257
Corticosteroid-Binding Globulin Deficiency
Hypotension, Anemia, Decreased circulating cortisol level, Hypertension OMIM:611489
Neuroleptic Malignant Syndrome
Hypotension, Hyperhidrosis, Pulmonary embolism, Aspiration pneumonia, Elevated hepatic transamina... ORPHA:94093
Combined Oxidative Phosphorylation Deficiency 53
Hypochromic microcytic anemia, Hepatomegaly OMIM:619423
Fish-Eye Disease
Angina pectoris, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79292
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Splenomegaly, Hepatomegaly OMIM:306000
Leptospirosis
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Hepatitis, Jaundice, Respiratory distress,... ORPHA:509
Cryoglobulinemic Vasculitis
Abnormality of the liver, Petechiae, Purpura, Viral hepatitis, Hepatomegaly, Gastrointestinal hem... ORPHA:91138
Mannosidosis, Alpha B, Lysosomal
Gait ataxia, Limb ataxia, Hypertrichosis, Hepatomegaly, Thick eyebrow, Vacuolated lymphocytes, Sp... OMIM:248500
Terminal Osseous Dysplasia
Fibroma, Abnormal hand bone ossification, Abnormal foot bone ossification, Abnormal bone structure OMIM:300244
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ... OMIM:617394
Ovarian Fibrothecoma
Fibrosarcoma, Diffuse leiomyomatosis, Peritonitis, Pleural effusion, Metrorrhagia, Hirsutism, Asc... ORPHA:314478
Cholestasis, Progressive Familial Intrahepatic, 2
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... OMIM:601847
Reynolds Syndrome
Biliary cirrhosis, Jaundice, Raynaud phenomenon, Elevated hepatic transaminase, Lymphopenia, Chol... OMIM:613471
Choreoacanthocytosis
Acanthocytosis, Elevated circulating alanine aminotransferase concentration, Falls, Abnormal eryt... ORPHA:2388
Alg12-Cdg
Abnormal bone ossification, B lymphocytopenia, Elevated hepatic transaminase, Chronic rhinitis, R... ORPHA:79324
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Anemia, Bruising susceptibility, Apnea, Chronic rhinitis, Lympha... ORPHA:667
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Secondary amenorrhea, Congestive heart failure, Hepatic steatosis, Hypertrophic car... ORPHA:2348
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia ORPHA:3405
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Intrahepatic biliary atresia, Alopecia, Hepatic fibrosis, Hepatic failure, Sparse eyebrow, Sclero... OMIM:607626
Somatostatinoma
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Increased circulating gonad... ORPHA:97283
Takenouchi-Kosaki Syndrome
Sparse eyebrow, Synophrys, Increased mean platelet volume, Ataxia, Thrombocytopenia, Highly arche... OMIM:616737
Poland Syndrome
Abnormality of the liver, Retinal hamartoma, Low posterior hairline, Acute leukemia, Neoplasm of ... ORPHA:2911
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Respiratory insufficiency, Anemia, Heart murmur, Intracranial hemorrhage, Cap... ORPHA:163979
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Liver abscess, Granulomatosis, Recurrent pneumonia, Lymphadenopathy, Rectal absces... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Liver abscess, Granulomatosis, Recurrent pneumonia, Lymphadenopathy, Rectal absces... OMIM:233710
Liver Disease, Severe Congenital
Systolic heart murmur, Elevated hepatic transaminase, Portal inflammation, Cholesteatoma, Hepatic... OMIM:619991
Pulmonary Alveolar Microlithiasis
Decreased fertility, Respiratory insufficiency, Pneumothorax, Exertional dyspnea, Bronchiectasis,... ORPHA:60025
Phocomelia, Schinzel Type
Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Radial bowing, Micrognathia... ORPHA:2879
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Primary amenorrhea, Anemia, Cirrhosis, Microvesicular hepatic steatosis, Polysplenia, Macronodula... OMIM:619418
Anterior Cutaneous Nerve Entrapment Syndrome
Hyperhidrosis, Leukocytosis ORPHA:51890
Fucosidosis
Spastic gait, Anhidrosis, Hepatomegaly, Cardiomegaly, Thick eyebrow, Vacuolated lymphocytes, Sple... OMIM:230000
Occipital Horn Syndrome
Genu valgum, Humerus varus, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Apla... ORPHA:198
Primary Triglyceride Deposit Cardiomyovasculopathy
Splenomegaly, Angina pectoris, Low-output congestive heart failure, Palpitations, Dyspnea, Hepato... ORPHA:565612
Erdheim-Chester Disease
Hyperhidrosis, Anemia, Retroperitoneal fibrosis, Increased bone mineral density, Congestive heart... ORPHA:35687
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Liver abscess, Granuloma, Granulomatosis, Pleural effusion, Recurrent pneumonia, L... OMIM:306400
Surfactant Metabolism Dysfunction, Pulmonary, 2
Pulmonary arterial hypertension, Respiratory insufficiency, Bronchiectasis, Interstitial pneumoni... OMIM:610913
Noonan Syndrome 14
Hyperhidrosis, Sparse eyebrow, Curly hair, Bruising susceptibility, Lymphopenia, Aortic regurgita... OMIM:619745
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Pleural effusion, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Alport Syndrome 1, X-Linked
Hypertension, Thrombocytopenia, Hypoparathyroidism, Diffuse leiomyomatosis OMIM:301050
Fructose-1,6-Bisphosphatase Deficiency
Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy, Elevated hepatic t... ORPHA:348
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Hypoplastic nipples, Nail dystrophy, Anemia ORPHA:261323
Camurati-Engelmann Disease
Anemia, Increased bone mineral density, Cortical thickening of long bone diaphyses, Diaphyseal sc... OMIM:131300
Infantile Liver Failure Syndrome 3
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasi... OMIM:618641
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea OMIM:620085
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Liver abscess, Granulomatosis, Recurrent pneumonia, Lymphadenopathy, Rectal absces... OMIM:233690
Nk-Cell Enteropathy
Increased T cell count, Lymphoproliferative disorder, Hematochezia, Intestinal polyp ORPHA:263665
Gaisböck Syndrome
Increased mean corpuscular hemoglobin concentration, Increased red blood cell count, Hypovolemia,... ORPHA:90041
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Hepatic fibrosis, Premature ovarian insufficiency, Elevated hepatic transaminase,... OMIM:212065
Wolfram Syndrome
Respiratory insufficiency, Central apnea, Anemia, Hypogonadism, Ataxia, Male hypogonadism, Abnorm... ORPHA:3463
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Deeah Syndrome
Hypohidrosis, Decreased circulating free T4 concentration, Decreased response to growth hormone s... OMIM:619004
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Gastrointestinal... ORPHA:131
Dyskeratosis Congenita, Digenic
Alopecia, Anemia, Squamous cell carcinoma of the skin, Basal cell carcinoma, Melanoma, Sparse eye... OMIM:620040
Schneckenbecken Dysplasia
Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Diaphyseal thickening, Micromelia, Hypop... ORPHA:3144
Diamond-Blackfan Anemia 10
Anemia, Steroid-responsive anemia, Reticulocytopenia, Respiratory distress, Macrocytic anemia OMIM:613309
Desmoid Tumor
Fibroma, Neoplasm of the skin, Intestinal polyposis, Osteolysis, Desmoid tumors, Gastrointestinal... ORPHA:873
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Elevated hepatic transaminase, Episodic tachypnea OMIM:615160
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Hemolytic anemia, Pleural empyema, Hypertension, Hypertensive crisis, Pneumonia, D... ORPHA:544482
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Squamous cell carcinoma, Alopecia, Anemia, Nail dystrophy OMIM:226600
Neutrophilic Dermatosis, Acute Febrile
Anemia, Dilated cardiomyopathy, Small vessel vasculitis OMIM:608068
Gaucher Disease, Type Iiic
Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:231005
Tangier Disease
Splenomegaly, Left ventricular hypertrophy, Myocardial infarction, Hepatomegaly, Nail dystrophy OMIM:205400
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Pulmonary arterial hypertension, Retroperitoneal fibrosis, Facial telangie... OMIM:602782
Omodysplasia 2
Rhizomelic arm shortening, Broad femoral neck, Short 1st metacarpal, Micrognathia, Clinodactyly o... OMIM:164745
Joubert Syndrome With Hepatic Defect
Intrahepatic biliary atresia, Cirrhosis, Neoplasm of the liver, Elevated hepatic transaminase, Ga... ORPHA:1454
Sialuria
Synophrys, Hirsutism, Hepatomegaly, Low posterior hairline, Sleep apnea, Hypoplastic nipples, Gen... OMIM:269921
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Perianal abscess, Lymphocytosis, Thrombocytosis, Decreased pro... OMIM:301074
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Ataxia, Alopecia of scalp, Hepatomegaly, Lethargy, Splenomegaly OMIM:201100
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Epiphyseal stippling of toe phalanges, Stippling of the epiphyses of the distal ph... ORPHA:79345
Cogan Syndrome
Anemia, Large vessel vasculitis, Aortic regurgitation, Thrombocytosis, Leukocytosis, Vasculitis ORPHA:1467
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera... OMIM:613027
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pancreatic hypoplasia, Biliary hyperplasia, B lymphocytopenia, Coronal craniosynostosis, Respirat... ORPHA:83617
Trichohepatoenteric Syndrome 1
Hepatic fibrosis, Splenomegaly, Cirrhosis, Hepatic failure, Abnormality of the pancreas, Curly ha... OMIM:222470
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anemia, Rhinitis, Elevated hepatic transaminase, Respiratory distress, Chronic lung disease, Pneu... ORPHA:95455
Hurler-Scheie Syndrome
Pulmonary arterial hypertension, Aortic regurgitation, Mitral regurgitation, Hirsutism, Hepatomeg... OMIM:607015
Hereditary Orotic Aciduria
Anemia, Splenomegaly ORPHA:30
Cushing Disease
Pituitary corticotropic cell adenoma, Sparse scalp hair, Increased circulating cortisol level, Se... ORPHA:96253
Opsismodysplasia
Respiratory insufficiency, Abnormally ossified vertebrae, Splenomegaly, Hepatomegaly ORPHA:2746
Tetanus
Hypertension, Respiratory distress, Bradycardia, Tachycardia, Tachypnea ORPHA:3299
Large Congenital Melanocytic Nevus
Sarcoma, Neoplasm of the skin, Neoplasm, Cutaneous melanoma, Generalized hirsutism, Rhabdomyosarcoma ORPHA:626
Glycogen Storage Disease Ii
Respiratory insufficiency, Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrom... OMIM:232300
Campomelic Dysplasia
11 pairs of ribs, Short long bone, Hypoplastic inferior ilia, Micrognathia, Hip dislocation, Femo... ORPHA:140
Lysosomal Acid Lipase Deficiency
Hypotension, Pulmonary arterial hypertension, Anemia, Hepatic fibrosis, Hepatic failure, Microves... ORPHA:275761
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Dystrophic toenail, Splenomegaly, Hypersplenism, Pulmonic stenos... OMIM:616028
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Jaundice, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly,... OMIM:235555
Coach Syndrome 1
Hepatic fibrosis, Cirrhosis, Intrahepatic bile duct dilatation, Elevated hepatic transaminase, Hy... OMIM:216360
Dopamine Beta-Hydroxylase Deficiency
Anemia, Rhinitis, Retrograde ejaculation, Abnormal EKG, Syncope, Dyspnea, Orthostatic hypotension... ORPHA:230
Colchicine Poisoning
Hypotension, Alopecia, Hypovolemia, Cardiogenic shock, Congestive heart failure, Respiratory dist... ORPHA:31824
Sandifer Syndrome
Hematemesis, Anemia ORPHA:71272
Down Syndrome
Acute megakaryocytic leukemia, Hypothyroidism, Myeloproliferative disorder OMIM:190685
Tick-Borne Encephalitis
Leukopenia, Thrombocytopenia, Elevated hepatic transaminase, Leukocytosis ORPHA:297
Cousin Syndrome
Hypoplastic iliac wing, 2-3 toe syndactyly, Hypoplastic pubic bone, Rhizomelia, Humeroradial syno... OMIM:260660
Autoimmune Hepatitis
Spider hemangioma, Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepatic steato... ORPHA:2137
Stiff-Person Syndrome
Hyperhidrosis, Anemia, Hypertension, Tachycardia OMIM:184850
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly ORPHA:664
Eisenmenger Syndrome
Brain abscess, Ventricular arrhythmia, Supraventricular arrhythmia, Angina pectoris, Palpitations... ORPHA:97214
Histiocytoid Cardiomyopathy
Supraventricular tachycardia, Right bundle branch block, Wolff-Parkinson-White syndrome, Congesti... ORPHA:137675
Pyomyositis
Sudden cardiac death, Recurrent cutaneous abscess formation, Testicular teratoma, Leukocytosis ORPHA:764
Immunodeficiency 59 And Hypoglycemia
High anterior hairline, Decreased proportion of class-switched memory B cells, Hepatomegaly, Prol... OMIM:233600
Adams-Oliver Syndrome 6
Portal hypertension, Hepatic fibrosis, Splenomegaly, Tricuspid regurgitation OMIM:616589
Mucopolysaccharidosis, Type Ii
Tracheobronchomalacia, Asthma, Congestive heart failure, Hepatosplenomegaly, Hypertrichosis, Recu... OMIM:309900
Senior-Boichis Syndrome
Anemia, Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Malformation of the hepatic d... ORPHA:84081
Cocaine Intoxication
Hypotension, Hyperhidrosis, Pneumothorax, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Vent... ORPHA:90068
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short ribs, Foot polyd... OMIM:208500
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Histiocytoma, Premature graying of hair, Diaphyseal cortical sclerosis, Patchy oste... OMIM:112250
Proteasome-Associated Autoinflammatory Syndrome 1
Irregular menstruation, Premature graying of hair, Sparse axillary hair, Elevated hepatic transam... OMIM:256040
Fanconi Anemia
Leukopenia, Anemia, Abnormality of the liver, Hypogonadism, Myelodysplasia, Pyridoxine-responsive... ORPHA:84
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Enlarged kidney, Malformation of the hepatic ductal plate, Hypertroph... OMIM:615415
Hennekam Syndrome
Benign neoplasm of the central nervous system, Respiratory insufficiency, Sparse axillary hair, P... ORPHA:2136
Joubert Syndrome With Oculorenal Defect
Apnea, Highly arched eyebrow, Ataxia, Tachypnea ORPHA:2318
Lymphatic Malformation 7
Anemia, Respiratory distress, Pleural effusion, Chylothorax, Ascites OMIM:617300
Congenital Tricuspid Valve Dysplasia
Systolic heart murmur, Hypoxemia, Tachypnea, Hepatomegaly, Respiratory failure, Cardiomegaly, Res... ORPHA:555874
Urachal Cyst
Neoplasm, Leukocytosis, Peritonitis, Abdominal mass, Abscess ORPHA:488
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Anemia, Duodenal adenocarcinoma, Multiple gastric polyps, Colon cancer, ... OMIM:174900
Renal Hypoplasia, Bilateral
Neonatal respiratory distress, Anemia, Lethargy, Hypertension ORPHA:97362
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Pituitary corticotropic cell adenoma, Capillary fragility, Decrea... ORPHA:99889
Primary Lipodystrophy
Cirrhosis, Splenomegaly, Angina pectoris, Congestive heart failure, Hypertension, Hepatic steatos... ORPHA:90970
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, Short humerus, Short femur ORPHA:17
Familial Tumoral Calcinosis
Hyperhidrosis, Neoplasm of the skin, Hyperostosis, Hepatomegaly, Splenomegaly ORPHA:53715
Thrombocytopenia-Absent Radius Syndrome
Pancreatic cysts, Anemia, Hepatosplenomegaly, Prolonged bleeding following circumcision, Facial c... OMIM:274000
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Bronchiectasis, Hypoxemia, Generalized lymphadenopathy, Pancytop... OMIM:181000
Aspartylglucosaminuria
Neutropenia, Vacuolated lymphocytes, Hepatomegaly, Mitral regurgitation OMIM:208400
Cockayne Syndrome Type 1
Anemia, Hypohidrosis, Elevated hepatic transaminase, Gait disturbance, Ataxia, Hypertension, Male... ORPHA:90321
Hepatoerythropoietic Porphyria
Hemolytic anemia, Abnormal bleeding, Erythroid hyperplasia, Scarring alopecia of scalp, Osteolysi... ORPHA:95159
Thauvin-Robinet-Faivre Syndrome
Nephroblastoma, Transient neutropenia OMIM:617107
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Nephroblastoma, Chronic neutropenia, Enlarged kidney, Transient neutropenia ORPHA:500095
Renal Nutcracker Syndrome
Anemia, Infertility, Syncope, Dyspareunia, Orthostatic hypotension, Dysmenorrhea, Tachycardia ORPHA:71273
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatic steatosis, Tachycardia, Prolonged QT interval, Osteoporosi... OMIM:613327
Gardner Syndrome
Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Papillary thyroid carcinoma, Brea... ORPHA:79665
Multiple Myeloma
Anemia, Pleural effusion, Lymphadenopathy, Osteopenia, Splenomegaly ORPHA:29073
8Q24.3 Microdeletion Syndrome
Short 5th finger, Short middle phalanx of the 5th finger, Hip dysplasia, Clinodactyly of the 5th ... ORPHA:508488
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Ataxia, Interstitial emphysema, Lymphopenia, Dysmetria OMIM:619708
Malt Lymphoma
Hyperhidrosis, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, B-cell lymphoma ORPHA:52417
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... ORPHA:75565
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory failure, Exertional dyspnea, Hypoxemia, Respiratory distress, Apnea, Nonspecific inte... OMIM:610921
Acrorenal-Mandibular Syndrome
Toe syndactyly, Foot polydactyly, Hypoplasia of the radius, Micrognathia, Hand polydactyly, Hip d... OMIM:200980
Secondary Intestinal Lymphangiectasia
Lymphoma, Cirrhosis, Secondary hyperaldosteronism, Lymphopenia, Pleural effusion, Constrictive pe... ORPHA:90363
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Esophageal carcinoma, Papillary thyroid carcinoma, Breast carcinoma, As... ORPHA:247806
Mesomelia-Synostoses Syndrome
Short phalanx of finger, Progressive forearm bowing, Tarsometatarsal synostosis, Carpometacarpal ... OMIM:600383
Joubert Syndrome
Episodic tachypnea, Gait disturbance, Ataxia, Apnea, Abnormal pattern of respiration, Highly arch... ORPHA:475
Incontinentia Pigmenti
Atrophic, patchy alopecia, Retinal hemorrhage, Alopecia, Coarse hair, Breast aplasia, Supernumera... OMIM:308300
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Interstitial pneumonitis, Spontaneous neonatal pneumothorax, Neo... ORPHA:217563
Double Outlet Right Ventricle
Heart murmur, Aplasia/Hypoplasia of the thymus, Tachycardia, Hypoparathyroidism, Pulmonic stenosi... ORPHA:3426
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Osteolytic defects of the phalanges of the hand, Splenomegaly, Acroosteolysis of distal phalanges... ORPHA:280365
Scheie Syndrome
Aortic regurgitation, Rhinitis, Splenomegaly, Hepatomegaly ORPHA:93474
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Anemia, Hypertension OMIM:208060
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Enlarged kidney, Poly... OMIM:208540
Sandhoff Disease
Hyperhidrosis, Hypohidrosis, Impotence, Ataxia, Hepatosplenomegaly, Hepatomegaly, Orthostatic hyp... OMIM:268800
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Bruising susceptibility, Pericarditis, Lymphadenopathy, Leukocytosis, Orchitis, Peritonitis, Sple... ORPHA:32960
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent aspiration pneumonia, Elevated hepatic transaminase, Supernumerary nipple, Early ossifi... ORPHA:397715
Nephronophthisis 11
Hepatic fibrosis, Anemia OMIM:613550
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility, Decreased fertility in females, Cirrhosis, Elevated hepatic transaminase, He... OMIM:269700
Familial Adenomatous Polyposis
Fibroma, Hypothyroidism, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal ... ORPHA:733
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced vital capacity, Restrictive ventilatory defect, Reduced forced expiratory volume i... OMIM:300770
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Sagittal craniosynostosis, Hepatitis, ... OMIM:610199
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Spastic gait, Hepatitis, Elevated hepatic transaminase, Hepatomegaly, Decreased ... ORPHA:415
Scorpion Envenomation
Hyperhidrosis, T-wave inversion, Cardiogenic shock, Priapism, Prominent U wave, Purpura, Congesti... ORPHA:466677
Juvenile Polyposis Of Infancy
Anemia, Abnormal bleeding, Hemangioma, Subcutaneous lipoma, Intestinal bleeding, Refractory anemi... ORPHA:79076
Nephronophthisis 1
Anemia, Hypertension OMIM:256100
Ethylene Glycol Poisoning
Hypotension, Episodic respiratory distress, Congestive heart failure, Ataxia, Hypertension, Shock... ORPHA:31826
Isolated Biliary Atresia
Atretic gallbladder, Cirrhosis, Hypothyroidism, Periportal fibrosis, Jaundice, Elevated hepatic t... ORPHA:30391
Cholera
Hypotension, Aspiration pneumonia, Hypovolemic shock, Hyperventilation, Lethargy, Tachycardia, Ta... ORPHA:173
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Thrombocytosis, Leukocytosis, Hypochromic anemia OMIM:618213
African Iron Overload
Hepatic fibrosis, Increased circulating cortisol level, Hepatitis, Hepatocellular carcinoma, Cong... ORPHA:139507
Nephronophthisis 4
Anemia OMIM:606966
Serotonin Syndrome
Hypotension, Hyperhidrosis, Hepatic failure, Hypertension, Tachycardia, Tachypnea ORPHA:43116
Proteus-Like Syndrome
Hemangioma, Hyperostosis, Thymus hyperplasia, Exostoses, Splenomegaly, Subcutaneous lipoma ORPHA:2969
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Talipes equinovarus ORPHA:1827
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Apnea, Dyspnea, Respiratory failure, Neonatal respiratory distre... OMIM:265120
Mucolipidosis Type Ii
Dry hair, Pulmonary insufficiency, Inability to walk, Left ventricular hypertrophy, Fine hair, He... ORPHA:576
Paraneoplastic Pemphigus
Thymoma, Sarcoma, B-cell lymphoma ORPHA:63455
Dermatomyositis
Pulmonary arterial hypertension, Breast carcinoma, Lymphoma, Respiratory insufficiency, Sinus tac... ORPHA:221
Liposarcoma
Sarcoma ORPHA:69078
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Increased bone mineral density, Anemia, Hypoparathyroidism OMIM:127000
Degcags Syndrome
Premature graying of hair, Synophrys, Hepatosplenomegaly, Abnormal eyelash morphology, Hepatomega... OMIM:619488
Wiedemann-Rautenstrauch Syndrome
Genu varum, Hypoplastic ilia, Slender long bone, Micrognathia, Clinodactyly, Short femur, Long fo... OMIM:264090
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Enlarged kidney, Hypertension, Hematemes... OMIM:263200
Cornelia De Lange Syndrome 1
Duplication of internal organs, Synophrys, Long eyelashes, Hypoplastic nipples, Hirsutism, Low po... OMIM:122470
Sponastrime Dysplasia
Hypothyroidism, Ivory epiphyses of the phalanges of the hand, Recurrent pneumonia, Neutropenia, D... ORPHA:93357
Pyruvate Carboxylase Deficiency
Tip-toe gait, Ataxia, Abnormal pattern of respiration, Hepatomegaly, Tachypnea ORPHA:3008
Orofaciodigital Syndrome Type 6
Episodic tachypnea, Gait disturbance, Ataxia, Apnea, Highly arched eyebrow, Hypothalamic hamartom... ORPHA:2754
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Anemia, Jaundice, Elevated hepatic transaminase, Abnormal bleeding, Hepatosplenomegaly, Hepatic s... ORPHA:247598
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Anemia, Hepatic arteriovenous malformation, Telangiectasia, Gastrointestinal carcinoma, Epistaxis... OMIM:175050
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... ORPHA:567983
Joubert Syndrome 1
Neonatal breathing dysregulation, Hepatic fibrosis, Episodic tachypnea, Ataxia, Central apnea, Hi... OMIM:213300
Juvenile Polyposis Syndrome
Juvenile colonic polyposis, Hepatic arteriovenous malformation, Brain abscess, Neoplasm of the ga... ORPHA:2929
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Anemia, Pancreatic aplasia, Apnea OMIM:609069
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Anemia, Hypogonadism, Synophrys, Gait disturbance, Osteolysis, Bone cyst ORPHA:3042
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly ORPHA:33577
Dpagt1-Cdg
Anemia, Inability to walk, Akinesia, Elevated hepatic transaminase, Intracranial hemorrhage, Atax... ORPHA:86309
Jacobsen Syndrome
Thrombocytopenia, Abnormal eyelash morphology, Annular pancreas OMIM:147791
Microsporidiosis
Lymphadenitis, Brain abscess, Rhinitis, Prostatitis, Hepatitis, Peritonitis, Thyroiditis, Biliary... ORPHA:2552
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Leukocyte Adhesion Deficiency, Type I
Rectal abscess, Leukocytosis OMIM:116920
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Lethargy, Tachypnea OMIM:615751
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Acute myelomonocytic leukemia, Abnormal bone ossification, Multiple enchondromatosis, Cavernous h... ORPHA:99646
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Cranial hyperostosis, Splenomegaly, Lipoma OMIM:612918
Multiple Endocrine Neoplasia Type 1
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Impotence, Neoplasm of ... ORPHA:652
Familial Adenomatous Polyposis 1
Fibroma, Multiple lipomas, Medulloblastoma, Astrocytoma, Duodenal polyposis, Odontoma, Adrenocort... OMIM:175100
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Sparse eyebrow, Synophrys, Abnormality of the lymphatic system, Thrombocytopenia, Highly arched e... ORPHA:487796
Anemia, Congenital Dyserythropoietic, Type Iiia
Congenital hypoplastic anemia, Jaundice, Anemia of inadequate production, Macrocytic anemia OMIM:105600
Roberts Syndrome
Thrombocytopenia, Craniosynostosis, Sparse hair, Midface capillary hemangioma ORPHA:3103
Cowden Syndrome
Fibroma, Neoplasm of the central nervous system, Melanoma, Neoplasm of the skin, Neoplasm of the ... ORPHA:201
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypohidrosis, Abnormal eyebrow morphology, Hypogonadism, Premature graying of hair, Ataxia, Hypop... ORPHA:163746
Sotos Syndrome
Decreased fertility, Hypothyroidism, Astrocytoma, Pulmonary bleb, Acute lymphoblastic leukemia, S... ORPHA:821
Campomelic Dysplasia
Short phalanx of finger, Hallux valgus, Micrognathia, Hip dislocation, Metatarsus adductus, Dislo... OMIM:114290
Truncus Arteriosus
Hypoplasia of the thymus, Pulmonic stenosis, Aortic regurgitation, Tachycardia, Abnormal heart va... ORPHA:3384
Cystic Fibrosis
Cirrhosis, Biliary cirrhosis, Bronchiectasis, Asthma, Chronic sinusitis, Reduced forced vital cap... OMIM:219700
Hydrolethalus Syndrome 1
Upper limb undergrowth, Preaxial hand polydactyly, Micrognathia, Proximal tibial hypoplasia, Dupl... OMIM:236680
Oculocerebrorenal Syndrome Of Lowe
Benign neoplasm of the central nervous system, Respiratory insufficiency, Hyperaldosteronism, Ane... ORPHA:534
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Calvarial osteosclerosis, Cortical thickening of long bone diaphyses, Decreased skull oss... ORPHA:93325
22Q11.2 Deletion Syndrome
Abnormality of thrombocytes, Hypothyroidism, Hypoplasia of the thymus, Hyperthyroidism, Asthma, P... ORPHA:567
Osteogenesis Imperfecta
Hyperhidrosis, Cerebral hemorrhage, Gait disturbance, Visceral angiomatosis, Ataxia, Bruising sus... ORPHA:666
Japanese Encephalitis
Respiratory paralysis, Irregular respiration, Choreoathetosis, Neutrophilia, Respiratory distress... ORPHA:79139
Aortic Arch Interruption
Systolic heart murmur, Left ventricular outflow tract obstruction, Right bundle branch block, Exe... ORPHA:2299
Digeorge Syndrome
Hypothyroidism, Anemia, Hypoplasia of the thymus, Asthma, Recurrent sinusitis, Chronic pulmonary ... OMIM:188400
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Enlarged kidney, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Ascites, Crani... OMIM:200995
Isotretinoin-Like Syndrome
Aortic valve stenosis, Lymphopenia ORPHA:2306
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Anemia, Pneumothorax, Squamous cell carcinoma, Dilated cardiomyopathy, Respiratory dist... ORPHA:79404
Kawasaki Disease
Hepatitis, Jaundice, Congestive heart failure, Abnormality of nail color, Pericarditis, Cervical ... ORPHA:2331
Jacobsen Syndrome
Aplasia/Hypoplasia of the eyebrow, Bone marrow hypocellularity, Annular pancreas, Aortic valve st... ORPHA:2308
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acut... OMIM:608594
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, 2-3 toe syndactyly, Hypoplastic ilia, Hip dysplasia, Short femur, Hypopl... ORPHA:3455
Joubert Syndrome 2
Neonatal breathing dysregulation, Episodic tachypnea, Ataxia, Central apnea OMIM:608091
Femoral-Facial Syndrome
Hypoplastic acetabulae, Preaxial hand polydactyly, Humeroradial synostosis, Toe syndactyly, Aplas... OMIM:134780
Niemann-Pick Disease Type C
Respiratory insufficiency, Hepatic failure, Abnormality of the liver, Aspiration pneumonia, Progr... ORPHA:646
Apolipoprotein C-Ii Deficiency
Pancreatitis, Splenomegaly, Hepatomegaly OMIM:207750
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Thyroiditis, Lymphadenopathy, Xerostomia, Thrombocytopenia ORPHA:79078
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, Tachypnea, Hypercapnia, Premature ventricular contraction, Ventricu... ORPHA:423
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Anemia, Hypertension OMIM:174000
Senior-Loken Syndrome 1
Anemia OMIM:266900
Tuberous Sclerosis 2
Hypothyroidism, Astrocytoma, Chordoma, Renal angiomyolipoma, Cardiac rhabdomyoma, Adenoma sebaceu... OMIM:613254
Blau Syndrome
Pulmonary arterial hypertension, Anemia, Abnormality of the liver, Large vessel vasculitis, Hyper... ORPHA:90340
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Micrognathia, Broad hallux, Short hallux, Postaxial hand polydactyly, Rocker bott... OMIM:304120
Mandibuloacral Dysplasia Progeroid Syndrome
Osteolytic defects of the phalanges of the hand, Sparse eyebrow, Left ventricular hypertrophy, El... OMIM:619127
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Truncal ataxia, Left ventricular hypertrophy, Hypertension, Ata... OMIM:220111
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Hypoplasia of the ovary, Leukocytosis, Alopecia OMIM:619321
Ectodermal Dysplasia And Immunodeficiency 2
Hypohidrosis, Sparse scalp hair, Anhidrosis, Aplasia of the sweat glands, Hepatomegaly, Sparse ha... OMIM:612132
Ehlers-Danlos Syndrome, Vascular Type
Osteolytic defects of the phalanges of the hand, Anemia, Foot acroosteolysis, Pneumothorax, Hemot... OMIM:130050
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Pituitary null cell adenoma, Pituitary... ORPHA:276152
Meige Disease
Pleural effusion, Absence of lymph node germinal center, Lymph node hypoplasia, Angiosarcoma ORPHA:90186
Tuberous Sclerosis Complex
Parathyroid adenoma, Cardiac rhabdomyoma, Retinal hamartoma, Renal angiomyolipoma, Angiofibromas,... ORPHA:805
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Pancreatitis, Splenomegaly, Hepatomegaly OMIM:615947
Grfoma
Intermittent jaundice, Parathyroid adenoma, Neoplasm of the pancreas, Increased circulating gonad... ORPHA:97261
Hyperlipoproteinemia, Type I
Jaundice, Pancreatitis, Splenomegaly, Hepatosplenomegaly OMIM:238600
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Hypertension, Tachypnea OMIM:613834
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Aplasia/hypoplasia of the femur, Missing ribs, Clinodactyly of the 5th finger,... ORPHA:2769
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Spinal neurofibromas, Lower limb dysmetria, Ossifying fibroma, Granuloma, Hemangioma, Schwannoma,... ORPHA:363700
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Fibroma, Nephroblastoma, Uterine leiomyoma, Parathyroid adenoma, Thyro... ORPHA:99880
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Fibroma, Aspiration pneumonia, Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Esophagea... ORPHA:1018
Lymphedema-Distichiasis Syndrome
Fibrosarcoma, Distichiasis, Arrhythmia ORPHA:33001
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Fibroma, Nephroblastoma, Uterine leiomyoma, Thyroid carcinoma, Renal h... ORPHA:143
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Fibroma, Neoplasm of the stomach, Astrocytoma, Papilloma, Adenocarcinoma of t... ORPHA:220460
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Aplastic clavicle, Abnormal finger morphology, Large iliac wing, Aplasia/hypoplasia of the femur,... ORPHA:2636
Milroy Disease
Angiosarcoma, Neoplasm of the skin ORPHA:79452
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, ... ORPHA:2753
Cranioectodermal Dysplasia 1
Short toe, Rhizomelia, Short ribs, Clinodactyly, Short humerus, Radial deviation of finger, Flatt... OMIM:218330
Kinsship Syndrome
Polydactyly, Coxa valga, Micrognathia, Hip dislocation, Dislocated radial head, Mesomelia, Fibula... OMIM:619297
Plague
Hypotension, Lymphadenitis, Abnormal bleeding, Respiratory distress, Tachycardia, Hepatomegaly, A... ORPHA:707
Joubert Syndrome 5
Neonatal breathing dysregulation, Episodic tachypnea, Ataxia, Central apnea OMIM:610188
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Flexion contracture of toe, Micrognathia, Talipes equinovarus, Campto... OMIM:300373
Aicardi Syndrome
Sparse lateral eyebrow, Hemangioma, Carcinoma, Teratoma, Hepatoblastoma, Recurrent pneumonia, Lip... OMIM:304050
Charge Syndrome
Hand monodactyly, Micrognathia, Absent tibia, Hand polydactyly, Bifid femur, Down-sloping shoulde... OMIM:214800
Alström Syndrome
Elevated hepatic transaminase, Recurrent sinusitis, Hepatosplenomegaly, Hepatic steatosis, Oligos... 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

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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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