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Gene: Cdk5rap2 MGI:2384875

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Gene Summary

Name:
CDK5 regulatory subunit associated protein 2
Synonyms:
2900018K03Rik,  an

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
abnormal head morphology Cdk5rap2tm1a(EUCOMM)Wtsi HOM Early adult 3.15×10-05
abnormal cranium morphology Cdk5rap2tm1a(EUCOMM)Wtsi HOM Early adult 5.60×10-06
decreased bone mineral content Cdk5rap2tm1a(EUCOMM)Wtsi HOM   Early adult 2.03×10-05
decreased leukocyte cell number Cdk5rap2tm1a(EUCOMM)Wtsi HOM Early adult 4.37×10-08
increased mean corpuscular volume Cdk5rap2tm1a(EUCOMM)Wtsi HOM Early adult 4.43×10-14
increased mean corpuscular hemoglobin Cdk5rap2tm1a(EUCOMM)Wtsi HOM Early adult 2.32×10-09
decreased erythrocyte cell number Cdk5rap2tm1a(EUCOMM)Wtsi HOM   Early adult 1.38×10-05
decreased lean body mass Cdk5rap2tm1a(EUCOMM)Wtsi HOM   Early adult 1.97×10-05
decreased body weight Cdk5rap2tm1a(EUCOMM)Wtsi HOM Early adult 1.38×10-07

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 0.0% (0 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 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 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 0.0% (0 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 Not available
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 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 0.0% (0 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 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

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

Associated Images

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

Histopathology

Images

16 Images

View images
Legacy Phenotype Associated Images
Cdk5rap2tm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI
Cdk5rap2tm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI
Cdk5rap2tm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI
Cdk5rap2tm1a(EUCOMM)Wtsi
forearm, HOM, Female, WTSI
Cdk5rap2tm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI

View all 58 images

Cdk5rap2tm1a(EUCOMM)Wtsi
primary motor cortex, decreased primary motor cortex size, HOM, Male, WTSI
Cdk5rap2tm1a(EUCOMM)Wtsi
habenula, decreased habenula size, HOM, Male, WTSI
Cdk5rap2tm1a(EUCOMM)Wtsi
primary motor cortex, decreased primary motor cortex size, HOM, Male, WTSI
Cdk5rap2tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Cdk5rap2 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.

The table below shows human diseases associated to Cdk5rap2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Recessive Primary Microcephaly
Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of c... ORPHA:2512
Microcephaly 3, Primary, Autosomal Recessive
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c... OMIM:604804

The table below shows human diseases predicted to be associated to Cdk5rap2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Diamond-Blackfan Anemia 13
Normocytic anemia OMIM:615909
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... OMIM:300751
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia OMIM:615550
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Diamond-Blackfan Anemia 5
Macrocytic anemia, Hypospadias, Erythroid hypoplasia, Reticulocytopenia, Leukopenia OMIM:612528
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Glutamate Formiminotransferase Deficiency
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia OMIM:229100
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor... ORPHA:86841
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Sma... OMIM:615631
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Az... ORPHA:300298
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia OMIM:601815
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia OMIM:237800
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Scoliosis, Anemia ORPHA:2802
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Unilateral cryptorchidism, Sparse eyelashes, Persistence of hemoglobin F, Incr... OMIM:300946
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia ORPHA:51208
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... OMIM:617780
Birk-Aharoni Syndrome
Cryptorchidism, Macrocytic anemia, Thick eyebrow, Micropenis OMIM:620071
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia ORPHA:294
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Os... ORPHA:232
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia... OMIM:227650
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Neutrope... OMIM:600901
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... OMIM:224120
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Atransferrinemia
Hypochromic anemia OMIM:209300
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Lumbar hyperlordos... OMIM:250250
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia OMIM:275350
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia ORPHA:318
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia OMIM:105600
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Reticulocytosis, Anemia of inadequate production OMIM:224100
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Hypospadias, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megalobla... ORPHA:2575
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Short neck, Myelodysplasia, Erythroid... ORPHA:124
Fanconi Anemia, Complementation Group C
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anterior wedging... OMIM:227645
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... OMIM:601775
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Anemia, Scoliosis, Thromb... ORPHA:3319
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Increased mitochondrial number, Hypersegmentation of neutrophil nuclei OMIM:615578
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia ORPHA:27
Glutathione Peroxidase Deficiency
Heinz bodies, Compensated hemolytic anemia OMIM:614164
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Fanconi Anemia, Complementation Group S
Low anterior hairline, Breast carcinoma, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Spa... OMIM:617883
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Breath-Holding Spells
Iron deficiency anemia OMIM:607578
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia ORPHA:46532
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Nephronophthisis
Anemia ORPHA:655
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia, Cryptorchidism OMIM:249270
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Diamond-Blackfan Anemia 10
Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia OMIM:613309
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Infantile Liver Failure Syndrome 1
Macrocytic anemia, Anemia OMIM:615438
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, ... ORPHA:508542
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous ... ORPHA:83469
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia OMIM:250940
Diamond-Blackfan Anemia 1
Macrocytic anemia, Myelodysplasia, Congenital hypoplastic anemia, Short neck, Reticulocytopenia, ... OMIM:105650
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Wt Limb-Blood Syndrome
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia OMIM:194350
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly OMIM:312500
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Megaloblastic anemia OMIM:236270
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ... OMIM:617021
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Peripheral Primitive Neuroectodermal Tumor
Back pain, Abnormal thoracic spine morphology, Neoplasm of the pancreas, Brain neoplasm, Metrorrh... ORPHA:370348
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Reticulocytopenia... OMIM:227646
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Reticulocytopenia, Neu... OMIM:557000
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Pancreatic Colipase Deficiency
Megaloblastic anemia ORPHA:309108
Pulmonary Hemosiderosis
Iron deficiency anemia OMIM:178550
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Sparse eyebrow, Macrocytic anemia, Granulocytopenia, Low posterior hairline OMIM:606164
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... OMIM:235700
Wolfram Syndrome 1
Sideroblastic anemia, Testicular atrophy, Thrombocytopenia, Megaloblastic anemia OMIM:222300
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Scoliosis, Neutropenia ORPHA:2169
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia OMIM:300752
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia OMIM:245900
Autosomal Dominant Optic Atrophy, Classic Form
Macrocytic anemia, Hypogonadism ORPHA:98673
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Spermatogenic Failure 17
Male infertility OMIM:617214
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis OMIM:604273
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Distichiasis, Scoliosis, Anemia ORPHA:2598
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Schöpf-Schulz-Passarge Syndrome
Alopecia, Squamous cell carcinoma, Ovarian neoplasm, Basal cell carcinoma, Sparse hair, Aplasia/H... ORPHA:50944
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Kyphosis, Normochromic anem... OMIM:615512
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Hypochromic microcytic anemia OMIM:301310
Beta-Thalassemia
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Chol... ORPHA:848
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, G... ORPHA:206484
Congenital Atransferrinemia
Anemia ORPHA:1195
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... OMIM:611590
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Schwannoma, Bladder carcinoma, Breast carcinoma, Ovarian neoplasm, Hod... ORPHA:157798
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Celiac Disease, Susceptibility To, 1
Alopecia, Macrocytic anemia, Lymphoma, Iron deficiency anemia, Infertility, Thrombocytosis OMIM:212750
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... ORPHA:145
Fibrodysplasia Ossificans Progressiva
Alopecia, Abnormal vertebral morphology, Anemia, Spinal rigidity ORPHA:337
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Fanconi Anemia, Complementation Group G
Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Scoliosis, Neutropenia OMIM:612562
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Hyperlysinemia, Type I
Anemia OMIM:238700
Vexas Syndrome
Macrocytic anemia, Myelodysplasia, Thrombocytopenia OMIM:301054
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Cowden Syndrome 1
Subcutaneous lipoma, Kyphosis, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hydrocele... OMIM:158350
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced bone mineral den... OMIM:617052
Immunodeficiency 21
Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen... OMIM:614172
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Ovarian neoplasm, Neoplasm, Neo... ORPHA:2221
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Alopecia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Thymoma... ORPHA:227990
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Hepatosplenomegaly, Thrombocytosis, Sterile abscess OMIM:604416
Ovarian Cancer
Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma OMIM:167000
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... ORPHA:2325
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Short neck, Cryptorchidism, Synophrys, Polysplenia OMIM:614294
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Alopecia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoi... ORPHA:227982
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume OMIM:185000
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Nail dystrophy, Anonychia, Sparse body hair, Anemia ORPHA:79402
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter OMIM:616534
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, Short neck, Microcytic anemia, Cryptorchidism, HbH hemoglobin, Aplasia/Hypoplasia of... ORPHA:98791
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Mitochondrial Dna Depletion Syndrome 18
Scoliosis, Microcytic anemia OMIM:618811
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Microcytic anemia OMIM:618852
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilocytosis, Hypoc... OMIM:615234
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Mitochondrial Dna Depletion Syndrome 19
Hydrocele testis, Hypospadias, Microcytic anemia OMIM:618972
Srd5A3-Cdg
Decreased response to growth hormone stimulation test, Microcytic anemia, Abnormal hair morpholog... ORPHA:324737
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
Ollier Disease
Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Platyspondy... ORPHA:296
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia, Abnormal form of the vertebral bodies ORPHA:1802
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Osteoporosis, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia... OMIM:127550
46,Xy Sex Reversal 6
Hypospadias, Sparse axillary hair, Hirsutism, Sex reversal, Gonadal dysgenesis, Chordee, Dysgermi... OMIM:613762
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Impotence, Neutropenia, Lymphopenia, Anemia, Amenorrhea OMIM:604250
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Werner Syndrome
Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, Neoplasm, Thyroid carcin... ORPHA:902
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia OMIM:616871
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hyperlordosis, Hypochromic anemia, ... OMIM:600462
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Short neck, Microcytic anemia, Hepatosplenomegaly, Scoliosis, Fibroma, Hypertrichosis OMIM:619750
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Congenital Erythropoietic Porphyria
Facial hypertrichosis, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Scarring al... ORPHA:79277
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Premature ovarian insufficiency, Eosino... ORPHA:199299
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Hypogonadism, Abnormality of hair texture, Megaloblastic anemia ORPHA:79351
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis OMIM:179700
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia OMIM:277380
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto... ORPHA:86839
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Myelodysplasia, Cryptorchidism, Premature graying of hair, Anemia, Squamous cell carcinoma of the... OMIM:620365
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte... ORPHA:2522
Hemochromatosis, Type 2B
Secondary amenorrhea, Splenomegaly, Hypogonadism, Anemia OMIM:613313
Amed Syndrome, Digenic
Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Hypoplasia of the uterus, Thrombocyto... OMIM:619151
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate... ORPHA:231222
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Blue Rubber Bleb Nevus
Visceral angiomatosis, Cavernous hemangioma, Microcytic anemia ORPHA:1059
Vascular Malformation, Primary Intraosseous
Hypochromic anemia OMIM:606893
Lesch-Nyhan Syndrome
Testicular atrophy, Megaloblastic anemia OMIM:300322
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:601859
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Splenomegaly, Thrombocytopenia, Sclerotic vertebral endplates, Anemia OMIM:611490
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Diffuse Neonatal Hemangiomatosis
Hemangiomatosis, Visceral angiomatosis, Anemia, Abnormal vagina morphology, Thrombocytopenia ORPHA:2123
Alpha-Heavy Chain Disease
Splenomegaly, Alopecia, Lymphoma, Anemia ORPHA:100025
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cryptorchidism, Anemia, Hyperlordosis ORPHA:1192
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Nail dystrophy, Testicular atrophy, An... OMIM:618165
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia OMIM:613561
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus, Anemia ORPHA:99927
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Tufted Angioma
Thrombocytopenia, Hypertrichosis, Neoplasm of the skin, Hemangioma of the lip, Anemia, Facial hem... ORPHA:1063
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal c... ORPHA:314478
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypopituitarism, Scoliosis, Microcytic anemia OMIM:619013
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia ORPHA:514
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Autosomal Recessive Primary Microcephaly
Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of c... ORPHA:2512
Subependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... ORPHA:251639
Ependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... ORPHA:251636
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Thoracic scoliosis, Premature ovarian insufficiency, Hypospadias, Hyper... ORPHA:2959
3-Methylglutaconic Aciduria, Type V
Normochromic microcytic anemia, Cryptorchidism, Hypospadias, Decreased testicular size OMIM:610198
Zimmermann-Laband Syndrome 3
Thick hair, Kyphosis, Synophrys, Low anterior hairline, Absent toenail, Long eyelashes, Small nai... OMIM:618658
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Hypospadias, Anemia OMIM:620135
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Microcytic anemia ORPHA:79278
Spermatogenic Failure 15
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:616950
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility OMIM:619949
Methylmalonic Acidemia With Homocystinuria Type Cblf
Neutropenia, Megaloblastic anemia ORPHA:79284
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Hypoplasia of penis, Hypospadias, Anemia ORPHA:1046
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Reticulocytosis OMIM:130600
Transaldolase Deficiency
Thrombocytopenia, Abnormality of the clitoris, Anemia, Hepatosplenomegaly ORPHA:101028
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Junctional Epidermolysis Bullosa Inversa
Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Anonychia, Anemia ORPHA:79405
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Fetal Akinesia Deformation Sequence 4
Neonatal death, Cryptorchidism, Kyphosis, Short neck OMIM:618393
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Hypochromic anemia, Microcytic anemia OMIM:618451
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Highly arched eyebrow, Microcytic anemia, Cryptorchidism, Primary ... ORPHA:293967
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Kyphosis, Hypoplasia of the prostate, Scoliosis, Micropenis, Scheuermann-like ver... OMIM:301900
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis OMIM:616649
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... ORPHA:276399
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Splenomegaly, Anemia of inadequate production OMIM:612714
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... OMIM:266200
Dermotrichic Syndrome
Hyperconvex toenail, Abnormal vertebral morphology, Nail dystrophy, Anemia ORPHA:99688
Spherocytosis, Type 4
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis OMIM:612653
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Myelodysplasia, Hematologi... ORPHA:98849
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Cholelithiasis OMIM:182900
Acatalasemia
Neoplasm of the larynx, Microcytic anemia ORPHA:926
Immunodeficiency 102
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... OMIM:301082
Late-Onset Junctional Epidermolysis Bullosa
Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Anonychia, Anemia ORPHA:79406
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of the subungual region, Squamous cell carcinoma, Basal cell carcinoma, Nail dystroph... ORPHA:79411
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231214
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia OMIM:618805
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Cryptorchidism, Kyphosis, Low posterior hairline, Premature graying of ha... ORPHA:2617
Frasier Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma OMIM:136680
Harderoporphyria
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:618892
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... ORPHA:288
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Cronkhite-Canada Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Splenomegaly, Hamartomatous polyp... ORPHA:2930
Sandhoff Disease
Splenomegaly, Kyphosis ORPHA:796
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Hirsutism ORPHA:85288
Congenital Disorder Of Glycosylation, Type Iq
Hypertrichosis, Microcytic anemia OMIM:612379
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyro... ORPHA:137608
Oslam Syndrome
Neoplasm, Anemia, Osteosarcoma OMIM:165660
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic hemolytic ane... ORPHA:2330
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... OMIM:180295
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lymphoma, Autoimm... OMIM:613011
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Anemia, Abnormal form of the vertebral bodies ORPHA:3344
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Anemia ORPHA:100024
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Anemia OMIM:618116
Addison Disease
Normocytic anemia, Hypoparathyroidism, Premature ovarian insufficiency, Decreased female libido, ... ORPHA:85138
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Cryptorchidism, Kyphosis, Scoliosis, Neonatal death OMIM:611890
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... OMIM:158320
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Hirsutism, Scoliosis OMIM:300434
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Klippel-Trénaunay Syndrome
Hemangioma, Abnormality of the menstrual cycle, Microcytic anemia ORPHA:90308
Glycogen Storage Disease Xii
Normocytic anemia, Short neck, Splenomegaly, Low posterior hairline, Normochromic anemia, Nonsphe... OMIM:611881
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Abnormal testis morphology, Hypospadias, Scoliosis ORPHA:1548
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Neutropenia OMIM:614900
H Syndrome
Abnormal eyebrow morphology, Alopecia, Microcytic anemia, Amenorrhea, Hypertrichosis, Hepatosplen... ORPHA:168569
Familial Colorectal Cancer Type X
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... ORPHA:440437
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormal testis morphology, Anemia ORPHA:54251
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia OMIM:614514
Copper Deficiency, Familial Benign
Curly hair, Early balding, Anemia OMIM:121270
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:613101
Winchester Syndrome
Kyphosis, Hirsutism OMIM:277950
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Myelodysplasia, Premature graying of hair, Myeloid leukemia, Anemia OMIM:614742
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Glycogen Storage Disease Vii
Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Cholelithiasis, Retic... OMIM:232800
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... OMIM:616084
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,... ORPHA:314473
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick hair, Kyphosis, Synophrys, Low posterior hairline, Scoliosis, Thick eyebrow ORPHA:2429
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Niemann-Pick Disease, Type A
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Microcytic anemia OMIM:257200
Dermatitis Herpetiformis
Microcytic anemia ORPHA:1656
Schimke Immunoosseous Dysplasia
Pancytopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Bilateral cryptorchidism,... OMIM:242900
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Normochromic anemia, Alopecia totalis, Thrombocytopenia OMIM:618775
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia ORPHA:90647
Bazex Syndrome
Yellow nails, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Anemia, Liposarcoma ORPHA:166113
Myopathy With Lactic Acidosis, Hereditary
Anemia, Sideroblastic anemia, Leukopenia OMIM:255125
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Kyphosis OMIM:618512
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red... OMIM:194380
Recessive Dystrophic Epidermolysis Bullosa Inversa
Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Vaginal strict... ORPHA:79409
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Familial Benign Copper Deficiency
Early balding, Anemia ORPHA:1551
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Secondary amenorrhea, Po... ORPHA:3085
Bile Acid Synthesis Defect, Congenital, 5
Splenomegaly, Iron deficiency anemia OMIM:616278
Zimmermann-Laband Syndrome 2
Thick eyebrow, Short neck, Kyphosis, Synophrys, Widow's peak, Long eyelashes, Anonychia, Hirsutis... OMIM:616455
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Hamamy Syndrome
Hypoparathyroidism, Sparse eyelashes, Microcytic anemia, Sparse eyebrow, Cryptorchidism, Low post... OMIM:611174
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis OMIM:300718
Acquired Von Willebrand Syndrome
Normocytic anemia, Refractory anemia, Metrorrhagia, Hematological neoplasm, Menorrhagia, Hypochro... ORPHA:99147
Basal Cell Nevus Syndrome 1
Vertebral fusion, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Kyphoscoliosi... OMIM:109400
Familial Pancreatic Carcinoma
Back pain, Pancreatic adenocarcinoma, Breast carcinoma, Hepatosplenomegaly, Melanoma, Ovarian car... ORPHA:1333
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia OMIM:615085
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Hatipoglu Immunodeficiency Syndrome
Pancytopenia, Hypospadias, Cryptorchidism, Hemivertebrae, Premature graying of hair, Fair hair, A... OMIM:620331
Adenohypophysitis
Decreased female libido, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... ORPHA:95512
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Sparse scalp hair, Premature graying of hair, Anemia, Neoplasm, Na... ORPHA:3322
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ab... ORPHA:1359
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia ORPHA:621
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia ORPHA:79096
Senior-Loken Syndrome 4
Anemia OMIM:606996
Spermatogenic Failure 28
Non-obstructive azoospermia, Decreased testicular size, Male infertility OMIM:618086
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Highly arched eyebrow OMIM:609384
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Kyphosis, Long eyelashes, Scoliosis, Abnormality of the cervical s... ORPHA:48431
Familial Peripheral Male-Limited Precocious Puberty
Macroorchidism, Male infertility, Oligozoospermia ORPHA:3000
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Mirage Syndrome
Hypospadias, Hypergonadotropic hypogonadism, Myelodysplasia, Cryptorchidism, Anemia, Leukopenia, ... OMIM:617053
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... OMIM:226990
Lynch Syndrome
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... ORPHA:144
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Hematological neoplasm, Thrombocytopenia, Leukocytosi... ORPHA:824
Lesch-Nyhan Syndrome
Anemia ORPHA:510
Castleman Disease
Myelofibrosis, Weight loss, Anemia, Decreased mean corpuscular volume, Thrombocytopenia ORPHA:160
Sheehan Syndrome
Dyspareunia, Decreased female libido, Sparse axillary hair, Reduced circulating prolactin concent... ORPHA:91355
Peutz-Jeghers Syndrome
Melanonychia, Neoplasm of the nose, Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Esoph... ORPHA:2869
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis OMIM:615761
Panhypophysitis
Decreased female libido, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... ORPHA:95513
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm OMIM:614350
Plummer-Vinson Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Concave nail ORPHA:54028
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low p... ORPHA:2983
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Blue Rubber Bleb Nevus
Iron deficiency anemia, Hemangioma, Thrombocytopenia, Cerebellar medulloblastoma OMIM:112200
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis OMIM:617404
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Hypopigmentation of hair, Albinism ORPHA:2786
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Breast carcinoma, Hamartomatous polyposis, Iron deficiency anemia, Ovar... OMIM:175200
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, Alopecia, Streak ovar... ORPHA:2232
Pelger-Huet Anomaly
Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Neu... OMIM:169400
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Thrombocytopenia, Megaloblastic anemia ORPHA:79282
Dilated Cardiomyopathy With Ataxia
Hypoplasia of penis, Bilateral cryptorchidism, Hypochromic microcytic anemia, Perineal hypospadia... ORPHA:66634
Omenn Syndrome
Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Aplasia/Hypoplasia of the eyebrow, ... ORPHA:39041
Oculocerebral Hypopigmentation Syndrome, Preus Type
White hair, Abnormality of neutrophils, Hypochromic anemia ORPHA:2720
Orthostatic Hypotension 2
Anemia OMIM:618182
Mcdonough Syndrome
Cryptorchidism, Synophrys, Kyphosis, Scoliosis ORPHA:2471
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:616756
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Synophrys, Scoliosis, Hypertrichosis ORPHA:85317
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Anemia ORPHA:2668
Barth Syndrome
Cyclic neutropenia, Abnormal mitochondrial morphology, Hypochromic microcytic anemia, Granulocyto... OMIM:302060
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:266120
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hyperparathyroidism, Anemia OMIM:618107
Monosomy 22
Aplasia of the thymus, Short neck, Synophrys, Schwannoma, Hypochromic microcytic anemia, Hepatosp... ORPHA:96123
Bethlem Myopathy 2
Kyphosis, Scoliosis OMIM:616471
Atypical Werner Syndrome
Abnormal hair whorl, Premature graying of hair, Neoplasm of the breast, Renal neoplasm, Alopecia,... ORPHA:79474
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the skin, ... OMIM:620040
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism, Frontal upsweep of hair, Kyphosis, Scoliosis OMIM:619797
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Lynch Syndrome 4
Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia OMIM:612840
Transaldolase Deficiency
Pancytopenia, Clitoral hypertrophy, Short neck, Splenomegaly, Synophrys, Hepatosplenomegaly, Anem... OMIM:606003
Mevalonic Aciduria
Normocytic hypoplastic anemia, Kyphoscoliosis, Fluctuating splenomegaly, Leukocytosis, Hepatosple... OMIM:610377
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hypoplasia of penis, Slow-growing hair, Short neck, Abnormal hair morphology, Cryptorchidism, Kyp... ORPHA:3082
Cdkl5-Deficiency Disorder
Kyphosis, Synophrys, Scoliosis ORPHA:505652
Denys-Drash Syndrome
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... OMIM:194080
Congenital Disorder Of Glycosylation, Type Ii
Iron deficiency anemia OMIM:607906
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Kyphoscoliosis, Cryptorchidism, Kyphosis, Reduced alpha/beta synthesis ratio, Hemive... OMIM:301040
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Cryptorchidism, Kyphosis, Scoliosis, Short neck ORPHA:178148
Microcephaly 3, Primary, Autosomal Recessive
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c... OMIM:604804
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... ORPHA:100026
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Hemophagocytosis, Subcutaneous panniculitis-like T-cell lymphoma, Anemia OMIM:618398
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Ne... OMIM:304790
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Cryptorchidism, Kyphosis, Scoliosis ORPHA:352490
Omenn Syndrome
Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t... OMIM:603554
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Microcytic anemia OMIM:612073
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Irregular v... ORPHA:3042
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Persistence of hemoglobin F, Ane... OMIM:260400
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... ORPHA:3261
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Splenomegaly, Kyphosis, Anemia, Leukopenia, Vertebral compression fr... ORPHA:77259
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... ORPHA:93315
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Tooth abscess ORPHA:89937
Kearns-Sayre Syndrome
Hypoparathyroidism, Sideroblastic anemia OMIM:530000
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Cryptorchidism, Kyphoscoliosis, Kyphosis, Scoliosis OMIM:618484
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, Kyphosis OMIM:618237
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia OMIM:613092
Fanconi Anemia, Complementation Group P
Cryptorchidism, Pancytopenia, Anemia, Squamous cell carcinoma OMIM:613951
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Vertebral compression fractu... OMIM:230800
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, Kyphosis, Shawl scrotum, Micropenis, Decreased testicular size OMIM:615433
Majeed Syndrome
Splenomegaly, Leukocytosis, Hypochromic microcytic anemia, Congenital hypoplastic anemia ORPHA:77297
Ectopic Aldosterone-Producing Tumor
Renal cortical adenoma, Adrenocortical adenoma, Ovarian neoplasm ORPHA:231632
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Anemia OMIM:226300
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:274150
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis, Abnormality of the nail OMIM:313420
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual... ORPHA:906
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Highly arched eyebrow, Cryptorchidism, Kyphosis, Long eyelash... OMIM:619005
Hemifacial Atrophy, Progressive
Kyphosis, Patchy alopecia, Poliosis OMIM:141300
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
Proteus Syndrome
Neoplasm of the thymus, Abnormal form of the vertebral bodies, Neoplasm of the central nervous sy... ORPHA:744
Lhermitte-Duclos Disease
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion, Ovarian neoplasm ORPHA:87
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Highly arched eyebrow, Supernumerary nipple, Myelodysplasia, Cryptorchidism, Kyphosis, Micropenis... OMIM:619951
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Low back pain, Hydrocele testis, Retrograde ejaculation, Impotence, Varicocele ORPHA:49041
Noonan Syndrome 14
Curly hair, Short neck, Sparse eyebrow, Cryptorchidism, Kyphosis, Low posterior hairline, Sparse ... OMIM:619745
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Kyphoscoliosis, Short neck, Acanthocytosis, Scoliosis, Poikilocytosis OMIM:618947
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:235400
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hyperechogenic pancreas, Thrombocytopenia, Neutropenia OMIM:617941
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Neutropenia, Microcytic anemia OMIM:251900
Gm1-Gangliosidosis, Type I
Short neck, Splenomegaly, Kyphosis, Vacuolated lymphocytes, Hypoplastic vertebral bodies, Scolios... OMIM:230500
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Dyskeratosis Congenita
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, ... ORPHA:1775
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Becker Nevus Syndrome
Hamartoma, Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Abnormality of the scrotum, ... ORPHA:64755
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Anoperineal fistula, Hypochromic anemia, Thrombocytosis OMIM:618213
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Synophrys, Hirsutism, Scoliosis OMIM:300861
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Anoperineal fistula, Thrombocytosis, Red... OMIM:301074
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Short neck, Kyphosis, Medu... ORPHA:77301
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Hepatosplenomegaly ORPHA:99931
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Renal Nutcracker Syndrome
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Infertility, Varicocele, Anemia ORPHA:71273
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Hypergonadotropic hypogonadism, Spinal rigidity OMIM:615084
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Premature ovarian insufficiency, Scoliosis OMIM:618124
Hypomelanosis Of Ito
Kyphosis, Alopecia, Scoliosis OMIM:300337
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Waldenström Macroglobulinemia
Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Lymphoma, Leukemia, Monoclonal immun... ORPHA:33226
Fanconi Anemia, Complementation Group F
Sacral dimple, Decreased response to growth hormone stimulation test, Cryptorchidism, Anemia, Leu... OMIM:603467
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Short sperm flagella, Male infertility OMIM:620197
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Crouzon Syndrome
Abnormality of the cervical spine, Dysgerminoma OMIM:123500
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Anemia OMIM:620296
Kleefstra Syndrome 2
Kyphosis, Thick eyebrow, Scoliosis OMIM:617768
Schaaf-Yang Syndrome
Cryptorchidism, Kyphosis, Hypogonadism, Scoliosis, Micropenis, Thick eyebrow OMIM:615547
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Sialidosis Type 2
Splenomegaly, Kyphosis ORPHA:87876
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Thrombocytopenia, Splenomega... OMIM:214500
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypochromic microcytic anemia, Anemia OMIM:619147
Intellectual Developmental Disorder, Autosomal Dominant 26
Highly arched eyebrow, Kyphosis, Thick eyebrow, Scoliosis OMIM:615834
Congenital Disorder Of Glycosylation, Type Iit
Iron deficiency anemia, Pineal cyst OMIM:618885
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Infertility, Scoliosis OMIM:614409
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia ORPHA:3405
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Cryptorchidism, Kyphosis, Hypogonadism, Micropenis, Decreased testicular size OMIM:300354
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Iron deficiency anemia, Alopecia, Thymoma OMIM:269200
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Kyphosis, Coarse hair, Scoliosis, Sparse hair ORPHA:1883
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Ruvalcaba Syndrome
Cryptorchidism, Kyphosis, Scoliosis OMIM:180870
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... OMIM:259720
Alpha-Mannosidosis
Splenomegaly, Kyphosis, Scoliosis, Short neck ORPHA:61
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Dyskeratosis Congenita, X-Linked
Ridged nail, Oropharyngeal squamous cell carcinoma, Pterygium of nails, Squamous cell carcinoma, ... OMIM:305000
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, S... ORPHA:352447
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Hypertrichosis OMIM:614898
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia OMIM:619632
Clark-Baraitser syndrome
Macroorchidism, Kyphosis, Scoliosis OMIM:300602
Combined Oxidative Phosphorylation Deficiency 53
Hypochromic microcytic anemia OMIM:619423
Diastrophic Dysplasia
Cryptorchidism, Kyphosis, Visceral angiomatosis, Abnormal form of the vertebral bodies, Scoliosis... ORPHA:628
Leukocyte Adhesion Deficiency Type Ii
Broad eyebrow, Neutrophilia, Microcytic anemia, Leukocytosis, Low anterior hairline, Long eyelash... ORPHA:99843
Hemochromatosis, Type 5
Anemia OMIM:615517
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia ORPHA:247691
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Short neck, Cryptorchidism, Kyphosis, Hypogonadism ORPHA:3409
Arthrogryposis, Distal, Type 4
Kyphosis, Low anterior hairline, Low posterior hairline, Hypoplastic labia majora, Lumbar scolios... OMIM:609128
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia ORPHA:1667
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Short neck, Early balding, Desmoid tumors, Low posterior hairline, Iron deficiency anemia, Osteom... ORPHA:261584
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Hypospadias, Short neck, Cryptorchidism, Kyphosis, Spina... ORPHA:2311
15Q24 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Cryptorchidism, Kyphosis, Mic... ORPHA:94065
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Anemia ORPHA:440713
Steinert Myotonic Dystrophy
Endometrial carcinoma, Alopecia, Brain neoplasm, Hypergonadotropic hypogonadism, Decreased respon... ORPHA:273
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Broad eyebrow, Highly arched eyebrow, Cryptorchidism, Kyphosis, Low anterior hairline, Woolly hai... OMIM:619244
Cowden Syndrome 6
Subcutaneous lipoma, Kyphosis, Fibroadenoma of the breast, Breast carcinoma, Hydrocele testis, Ov... OMIM:615109
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Thrombocytopenia OMIM:254900
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Cohen Syndrome
Thick hair, Abnormal eyelash morphology, Cryptorchidism, Kyphosis, Low anterior hairline, Long ey... ORPHA:193
Sandifer Syndrome
Anemia, Decreased cervical spine mobility ORPHA:71272
Ruvalcaba Syndrome
Cryptorchidism, Kyphosis, Scoliosis, Abnormal vertebral epiphysis morphology, Generalized hirsutism ORPHA:3121
Baralle-Macken Syndrome
Kyphosis, Hirsutism OMIM:619255
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Hypospadias, Myelodysplasia, Abnormal preputium morph... ORPHA:84
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... ORPHA:2635
4Q21 Microdeletion Syndrome
Short neck, Kyphosis, Synophrys, Long eyelashes, Scoliosis, Generalized hirsutism ORPHA:238750
Hall-Riggs Syndrome
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis OMIM:234250
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Vaginal hernia, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies,... ORPHA:2916
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Spinal rigidity, Scoliosis, Short neck ORPHA:75840
Ménétrier Disease
Hypochromic microcytic anemia ORPHA:2494
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia ORPHA:99867
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Uterine leiomyoma, Papill... ORPHA:480536
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, White hair, Anemia, Fine hair ORPHA:935
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Overweight OMIM:619769
Corticosteroid-Binding Globulin Deficiency
Anemia OMIM:611489
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Leukopenia, Thrombocytopenia OMIM:300972
Trisomy 20P
Hypospadias, Thick hair, Highly arched eyebrow, Short neck, Cryptorchidism, Kyphosis, Low anterio... ORPHA:261318
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Alopecia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in ... ORPHA:37042
Cowden Syndrome 5
Subcutaneous lipoma, Kyphosis, Breast carcinoma, Hydrocele testis, Ovarian cyst, Hamartomatous po... OMIM:615108
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Scoliosis OMIM:618234
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
Gm1 Gangliosidosis
Hyperlordosis, Splenomegaly, Kyphosis, Abnormal form of the vertebral bodies, Hepatosplenomegaly,... ORPHA:354
Acute Adrenal Insufficiency
Normocytic anemia, Decreased female libido, Sparse axillary hair ORPHA:95409
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Thymoma, Anemia ORPHA:169105
Trisomy 13
Abnormal eyelash morphology, Kyphosis, Cryptorchidism, Capillary hemangioma, Scoliosis, Displacem... ORPHA:3378
Vipoma
Neoplasm of the pancreas, Follicular thyroid carcinoma, Elevated circulating growth hormone conce... ORPHA:97282
Eisenmenger Syndrome
Iron deficiency anemia, Brain abscess, Increased mean corpuscular volume, Hypochromic microcytic ... ORPHA:97214
19P13.12 Microdeletion Syndrome
Hypospadias, Short neck, Precocious puberty, Cryptorchidism, Kyphosis, Synophrys, Scoliosis, Gene... ORPHA:254346
Camurati-Engelmann Disease
Hyperlordosis, Splenomegaly, Kyphosis, Leukopenia, Abnormality of the vertebral column, Hypogonad... ORPHA:1328
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Kyphosis, Aplasia/Hypoplasia of the nails OMIM:619123
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphoscoliosis, Kyphosis, Synophrys, Broad nail, Scoliosis, Thick eyebrow OMIM:300280
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Brain abscess, Lumbar hyperlordosis, Kyphosis, Irregular menstruation, Uterine leiomyoma, Platysp... OMIM:616482
Lead Poisoning
Small for gestational age, Cranial hyperostosis, Imbalanced hemoglobin synthesis, Abnormal T cell... ORPHA:330015
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Glucagonoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Acanthocytosis, Incr... ORPHA:97280
Primary Sjögren Syndrome
Normocytic anemia, Vaginal dryness, Parotitis, Lymphoproliferative disorder, Lymphoma, Leukopenia... ORPHA:289390
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Severe failure to thrive, HbH hemoglobin ORPHA:423479
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Kyphosis, Scoliosis, Cryptorchidism OMIM:615381
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis ORPHA:816
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Sialidosis Type 1
Splenomegaly, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:812
Spondyloenchondrodysplasia
Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growth hormone stim... ORPHA:1855
Arteriosclerosis, Severe Juvenile
Dysplasia of second lumbar vertebra, Anemia OMIM:208060
3M Syndrome
Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Decreased fertility... ORPHA:2616
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Short neck, Hepatosplenomegaly OMIM:608776
Rhizomelic Syndrome, Urbach Type
Abnormal hair quantity, Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Thick eyebrow, Short neck, Splenomegaly, Hypoplasia... OMIM:253220
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Decreased proportion of CD8-... ORPHA:508533
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Degcags Syndrome
Synophrys, Low anterior hairline, Premature graying of hair, Leukopenia, Iron deficiency anemia, ... OMIM:619488
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:90038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:606612
Neuroendocrine Neoplasm Of Appendix
Adrenocorticotropic hormone excess, Ovarian neoplasm, Intestinal carcinoid, Adenocarcinoma of the... ORPHA:100079
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Small scrotum, External genital hypoplasia, Precocious puberty, Cryptor... ORPHA:398069
Developmental And Epileptic Encephalopathy 50
Schistocytosis, Anisopoikilocytosis, Anemia, Acanthocytosis OMIM:616457
Marinesco-Sjogren Syndrome
Kyphosis, Hypergonadotropic hypogonadism, Scoliosis OMIM:248800
Flynn-Aird Syndrome
Kyphosis, Alopecia, Scoliosis ORPHA:2047
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Hypogonadism, Scolio... ORPHA:85293
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:252605
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia OMIM:618372
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Cryptorchidism, Kyphosis, Low anterior hairline, Scoliosis ORPHA:404440
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
Micro Syndrome
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Kyphosis, Clitoral hypoplasia, Sco... ORPHA:2510
Proteasome-Associated Autoinflammatory Syndrome 1
Parotitis, Sparse axillary hair, Microcytic anemia, Splenomegaly, Epididymitis, Irregular menstru... OMIM:256040
Atelis Syndrome 2
Thrombocytopenia, Sacral dimple, Kyphosis, Anemia OMIM:620185
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Pulmonary Arteriovenous Malformation
Iron deficiency anemia, Brain abscess, Liver abscess ORPHA:2038
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Hereditary Hemorrhagic Telangiectasia
Visceral angiomatosis, Cholelithiasis, Cavernous hemangioma, Microcytic anemia ORPHA:774
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:536516
Aceruloplasminemia
Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia ORPHA:48818
Koolen-De Vries Syndrome
Vertebral fusion, Hypopigmentation of hair, Hypospadias, Abnormality of hair texture, Cryptorchid... ORPHA:96169
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Hurler-Scheie Syndrome
Splenomegaly, Kyphosis, Hirsutism, Scoliosis OMIM:607015
Neuroendocrine Tumor Of Stomach
Paraganglioma, Iron deficiency anemia, Carcinoid tumor, Atypical pulmonary carcinoid tumor ORPHA:100075
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Nephronophthisis 4
Anemia OMIM:606966
Prader-Willi Syndrome
Hypopigmentation of hair, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplas... OMIM:176270
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Low p... ORPHA:2789
Genitopalatocardiac Syndrome
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Kyphosis, Scoliosis, Gonadal dysgenesis,... ORPHA:2075
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Nephroblastoma OMIM:618272
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Kyphosis, Fine hair, Scoliosis, Sparse hair OMIM:617988
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Scoliosis ORPHA:464282
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Multiple Pterygium-Malignant Hyperthermia Syndrome
Small scrotum, Cryptorchidism, Kyphosis, Hyperconvex fingernails, Fingernail dysplasia, Scoliosis... ORPHA:2215
Harrod Syndrome
Cryptorchidism, Kyphosis, Hypospadias, Scoliosis ORPHA:2115
Neurofibromatosis Type 1
Abnormal hair quantity, Astrocytoma, Precocious puberty, Cryptorchidism, Kyphosis, Chronic myelog... ORPHA:636
Cockayne Syndrome Type 2
Male hypogonadism, Kyphosis, Scoliosis, Cryptorchidism ORPHA:90322
Carney Triad
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... ORPHA:139411
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Micropenis, Kyphosis, Scoliosis ORPHA:364028
Marden-Walker Syndrome
Hypospadias, Short neck, Cryptorchidism, Kyphosis, Scoliosis, Micropenis OMIM:248700
Trisomy 9P
Sacral dimple, Short neck, Hypoplastic toenails, Kyphosis, Fingernail dysplasia, Scoliosis, Hypop... ORPHA:236
3C Syndrome
Hypoplasia of penis, Hypospadias, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Facial hemangio... ORPHA:7
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thick eyebrow, Kyphosis, Synophrys, Low anterior hairline, Frontal upsweep of hair, Scoliosis, Hi... OMIM:617061
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... ORPHA:93314
Wieacker-Wolff Syndrome
Hyperlordosis, Short neck, Kyphosis, Scoliosis, High anterior hairline OMIM:314580
Shashi-Pena Syndrome
Highly arched eyebrow, Kyphosis, Synophrys, Long eyelashes, Scoliosis, Cervical C2/C3 vertebral f... OMIM:617190
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Abnormality of the ute... ORPHA:201
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Scoliosis ORPHA:137834
Alstrom Syndrome
Alopecia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... OMIM:203800
Abetalipoproteinemia
Reticulocytosis, Kyphoscoliosis, Anemia, Acanthocytosis ORPHA:14
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:253000
Pycnodysostosis
Ridged nail, Decreased response to growth hormone stimulation test, Hyperlordosis, Kyphosis, Hepa... ORPHA:763
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Splenomegaly, Anemia, Bile duct proliferation, Scoliosis, Thrombocytopenia OMIM:619525
Arthrogryposis, Distal, Type 5
Kyphosis, Scoliosis OMIM:108145
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Spinal rigidity, Kyphosis, Synophrys, Scoliosis, Neonatal death OMIM:620351
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Kyphosis OMIM:212065
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Cryptorchidism, Kyphosis, Coarse hair, Scoliosis, Biconcave vertebr... OMIM:130720
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Kyphosis, Scoliosis, Sparse hair, Clitoral hypertrophy OMIM:616449
Emanuel Syndrome
Sacral dimple, Cryptorchidism, Kyphosis, Scoliosis, Micropenis OMIM:609029
Fountain Syndrome
Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta, Thic... ORPHA:3219
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Kyphosis, Vertebral segmentation defect, Scoliosis, Sparse hair, Abnormal toenail morph... ORPHA:1005
Somatostatinoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Increased circulatin... ORPHA:97283
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Kyphosis, Long eyelashes, Hypoplastic... ORPHA:79329
Alg1-Cdg
Kyphosis, Scoliosis ORPHA:79327
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
2P15P16.1 Microdeletion Syndrome
Supernumerary nipple, Sparse eyebrow, Kyphosis, Fine hair, Hypogonadism, Long eyelashes, Scoliosi... ORPHA:261349
Atypical Rett Syndrome
Kyphosis, Scoliosis ORPHA:3095
Mucopolysaccharidosis Type 6
Splenomegaly, Kyphosis, Ovoid vertebral bodies, Short neck ORPHA:583
47,Xyy Syndrome
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism ORPHA:8
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Lymphopenia, Rectovaginal fistula OMIM:619708
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis ORPHA:2181
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:2655
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Uterus didelphys, Bicornuate uterus, Scoliosis, Butterfly ve... ORPHA:958
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Pituitary adenoma, Oligomenorrhea, Biconcave vertebral bodies, Vertebral compression fr... OMIM:219090
Ogden Syndrome
Short neck, Sparse eyebrow, Cryptorchidism, Fine hair, Hydrocele testis, Iron deficiency anemia, ... OMIM:300855
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:3191
Crisponi Syndrome
Kyphosis, Scoliosis ORPHA:1545
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, Scoliosis, Thick eyebrow OMIM:618443
Mucopolysaccharidosis, Type Ii
Short neck, Splenomegaly, Kyphosis, Hepatosplenomegaly, Hypertrichosis OMIM:309900
Hurler Syndrome
Short neck, Splenomegaly, Hypoplasia of the odontoid process, Kyphosis, Hepatosplenomegaly, Bicon... OMIM:607014
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis OMIM:618138
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Abnormality of hair texture, Cryptorchidism, Kyphosis, Scoliosis... OMIM:610443
Marburg Hemorrhagic Fever
Back pain, Lymphopenia, Reticulocytosis, Orchitis, Neutrophilia in presence of infection, Leukope... ORPHA:99826
Cdags Syndrome
Sparse scalp hair, Sparse eyelashes, Hypospadias, Sparse eyebrow, Kyphosis, Rectovaginal fistula OMIM:603116
Weaver Syndrome
Deep-set nails, Thin nail, Cryptorchidism, Kyphosis, Fine hair, Hydrocele testis, Scoliosis, Spar... OMIM:277590
2Q31.1 Microdeletion Syndrome
Short neck, Hypoplastic toenails, Cryptorchidism, Kyphosis, Synophrys, Low anterior hairline, Abn... ORPHA:251014
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Scoliosis ORPHA:98863
Aspartylglucosaminuria
Kyphosis, Vacuolated lymphocytes, Platyspondyly, Spondylolysis, Scoliosis, Neutropenia, Macroorch... OMIM:208400
Poland Syndrome
Hypospadias, Short neck, Retinal hamartoma, Cryptorchidism, Kyphosis, Hemivertebrae, Acute leukem... ORPHA:2911
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Decreased response to gro... ORPHA:699
Distal Triplication 15Q
Abnormal external genitalia, Kyphosis, Hydrocele testis, Scoliosis, Nephroblastoma ORPHA:314588
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia ORPHA:309031
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Hypospadias, Cryptorchidism, Kyphosis, Scoliosis OMIM:617602
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:251450
Nmda Receptor Encephalitis
Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the... ORPHA:217253
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Small intestine carcinoid ORPHA:100078
Typical Nemaline Myopathy
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis ORPHA:171436
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Kyphosis, Scoliosis, Micropenis OMIM:619718
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis OMIM:618291
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:98855
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:607155
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Marshall-Smith Syndrome
Thoracic scoliosis, Brittle hair, Kyphoscoliosis, Highly arched eyebrow, Bilateral cryptorchidism... OMIM:602535
Microphthalmia, Lenz Type
Hypospadias, Hyperlordosis, Cryptorchidism, Kyphosis, Scoliosis ORPHA:568
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly ORPHA:93274
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Kyphosis, Hypogonadism, Scoliosis, Micropenis ORPHA:500055
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Hajdu-Cheney Syndrome
Hypospadias, Abnormal fingernail morphology, Short neck, Hypoplastic 5th lumbar vertebrae, Spleno... ORPHA:955
Wieacker-Wolff Syndrome, Female-Restricted
Kyphosis, Scoliosis, Short neck OMIM:301041
Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:98853
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Oculocerebrorenal Syndrome Of Lowe
Benign neoplasm of the central nervous system, Sparse scalp hair, Hyperparathyroidism, Cryptorchi... ORPHA:534
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Low anterior hairline ORPHA:261222
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... ORPHA:15
Schwartz-Jampel Syndrome
Abnormal eyebrow morphology, Abnormally ossified vertebrae, Hyperlordosis, Short neck, Kyphosis, ... ORPHA:800
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst, Kyphosis OMIM:610475
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Male pseudohermaphroditism, Scoliosis, ... ORPHA:140
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Squamous cell carcinoma, Iron deficiency anemia, Basal cell carcinoma, Nail dystrophy, Cutaneous ... ORPHA:79408
Multiple Pterygium Syndrome, Escobar Variant
Exostosis of the external auditory canal, Hypospadias, Thoracolumbar scoliosis, Short neck, Crypt... OMIM:265000
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyl... OMIM:253010
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... ORPHA:93360
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Short neck, Kyphosis, Synophrys, Prominent protruding coccyx, Prominent coccyx, Sc... OMIM:300966
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Hypospadias, Trichiasis, Sparse eyebrow, Kyphosis, Thin eyebrow OMIM:609944
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Ullrich Congenital Muscular Dystrophy 1
Kyphosis, Scoliosis, Spinal rigidity OMIM:254090
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Alopecia, Kyphoscoliosis, Cryptorchidism, Kyphosis ORPHA:536532
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Male infertility, Primary amenorrhea, Testicular neoplasm ORPHA:99429
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Clitoral hypoplasia, Long eyelashes, Scolios... OMIM:616894
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis ORPHA:582
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Hypospadias, Sparse eyebrow, Kyphosis, Male urethral meatus stenosis, Scoliosi... ORPHA:464738
Dysostosis, Stanescu Type
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Exostoses ORPHA:1798
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Low anterior hairline OMIM:619909
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Precocious puberty, ... ORPHA:97685
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Sacral dimple, Alopecia, Short neck, Cryptorchidism, Kyphosis, Vertebral seg... ORPHA:1507
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Scoliosis ORPHA:79107
Cockayne Syndrome A
Dry hair, Splenomegaly, Cryptorchidism, Kyphosis, Irregular menstruation, Hypogonadism, Sparse ha... OMIM:216400
Multiple Endocrine Neoplasia, Type Iib
Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Parathyroid hyperplasia, Nodular goiter, Me... OMIM:162300
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Somatomammotropinoma
Hypogonadotropic hypogonadism, Dysmenorrhea, Abnormal fingernail morphology, Elevated circulating... ORPHA:314769
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Coffin-Lowry Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Hyperconvex fingernails, Scoliosis, Hypoplastic ... ORPHA:192
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Mosaic Trisomy 20
Vertebral fusion, Cryptorchidism, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vert... ORPHA:1724
Acromegaly
Hypogonadotropic hypogonadism, Dysmenorrhea, Abnormal fingernail morphology, Elevated circulating... ORPHA:963
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Cockayne Syndrome B
Dry hair, Abnormal hair morphology, Splenomegaly, Kyphosis, Cryptorchidism, Sparse hair, Micropenis OMIM:133540
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Platyspondyly, Sclerotic vertebral body, Long eyelashes OMIM:618476
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:1860
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Fair hair, Hypospadias, Alopecia, Testicular neoplasm, Hyperlordosis, Precocious p... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Fair hair, Hypospadias, Alopecia, Testicular neoplasm, Hyperlordosis, Precocious p... ORPHA:363958
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Scoliosis OMIM:609541
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Kyphoscoliosis, Sparse eyebrow, Cryptorchidism, Kyphosis, Synophrys, Abnormality of ... ORPHA:3063
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Abnormality of the spleen, Cryptor... ORPHA:1606
Wolf-Hirschhorn Syndrome
Sacral dimple, Hypospadias, Highly arched eyebrow, Cryptorchidism, Kyphosis, Abnormal form of the... ORPHA:280
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Pelizaeus-Merzbacher Disease
Kyphosis, Scoliosis ORPHA:702
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Epispadias, Cryptorchidism, ... ORPHA:2658
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Normochromic anemia, Reduced hematocrit ORPHA:91500
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis OMIM:617143
Gitelman Syndrome
Parathyroid adenoma, Iron deficiency anemia, Neoplasm of the pancreas ORPHA:358
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Hypospadias, Highly arched eyebrow, Precocious... OMIM:194190
Ramon Syndrome
Enlarged labia minora, Kyphosis, Gingival fibromatosis, Scoliosis, Hypertrichosis OMIM:266270
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Hypopituitarism, ... OMIM:300942
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Cono-Spondylar Dysplasia
Kyphosis, Short nail, Scoliosis, Short neck ORPHA:420794
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Supernumerary nipple, Short neck, Cryptorchidism, Kyphosis, Capillary hemangioma, Scoliosis, High... OMIM:619194
Alexander Disease
Hyperlordosis, Precocious puberty, Kyphosis, Short neck, Scoliosis ORPHA:58
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Acth-Independent Macronodular Adrenal Hyperplasia
Neoplasm, Kyphosis, Adrenal hyperplasia, Macronodular adrenal hyperplasia OMIM:219080
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Mucolipidosis Type Ii
Dry hair, Splenomegaly, Kyphosis, White hair, Hepatosplenomegaly, Fine hair ORPHA:576
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Kyphosis, Scoliosis, Micropenis, Abno... ORPHA:464306
Fucosidosis
Kyphosis, Abnormality of the nail, Anterior beaking of lumbar vertebrae ORPHA:349
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Cryptorchidism, Kyphosis, Posterior pituitary hypoplasia, Scoliosis, Micropenis, Abn... ORPHA:464311
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Scoliosis ORPHA:88628
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Scoliosis ORPHA:88644
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Scoliosis OMIM:211530
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Coffin-Siris Syndrome 1
Sparse scalp hair, Sacral dimple, Thick eyebrow, Hypospadias, Dry hair, Cryptorchidism, Kyphosis,... OMIM:135900
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Hypopigmentation of hair, Hypospadias, Short neck, Abnormal eyelash morpholo... ORPHA:818
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Cryptorchidism, Kyphosis,... ORPHA:2273
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Synophrys, Scoliosis ORPHA:476126
Rett Syndrome
Kyphosis, Scoliosis OMIM:312750
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:2479
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Secondary amenorrhea OMIM:610489
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Orofaciodigital Syndrome Iii
Kyphosis, Hyperconvex nail OMIM:258850
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyebrow, Thin fingernail, Hypospadias, Absent eyelashes, Kyphosis ORPHA:85199
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Scoliosis OMIM:618493
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Scoliosis, Hypertrichosis OMIM:618050
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Hypospadias, Decreased response to growth hormone stimulation test, Premature thel... ORPHA:268261
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Female infertility, Sh... ORPHA:99413
Mosaic Monosomy X
Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Female infertility, Sh... ORPHA:99228
Monosomy X
Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Female infertility, Sh... ORPHA:99226
Turner Syndrome
Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Female infertility, Sh... ORPHA:881
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Sparse eyebrow, Kyphosis, Micropenis, Broad eyebrow ORPHA:457359
Osteogenesis Imperfecta
Cervical kyphosis, Kyphosis, Visceral angiomatosis, Vertebral compression fracture, Abnormal form... ORPHA:666
Cockayne Syndrome Type 3
Dry hair, Splenomegaly, Kyphosis, Premature graying of hair, Scoliosis ORPHA:90324
Sotos Syndrome
Sacrococcygeal teratoma, Astrocytoma, Hypospadias, Phimosis, Cryptorchidism, Kyphosis, Sparse ant... ORPHA:821
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Synophrys, Scoliosis OMIM:619557
Cockayne Syndrome
Dry hair, Splenomegaly, Kyphosis, Cryptorchidism, Fine hair, Scoliosis ORPHA:191
Marden-Walker Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Kyphosis, Abnormal form of the vertebral bodi... ORPHA:2461
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Hirsutism OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Kyphosis, Hirsutism ORPHA:521426
Occipital Horn Syndrome
Pelvic bone exostoses, Kyphosis, Bladder carcinoma, Platyspondyly, Coarse hair, Pili torti, Exost... OMIM:304150
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Highly arched eyebrow, Kyphosis, Sparse eyebrow... OMIM:143095
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Back pain, Broad eyebrow, Hypospadias, Kyphosis, Synophrys, Neurofibroma, Abnormal... OMIM:619475
Familial Osteodysplasia, Anderson Type
Kyphosis, Thick eyebrow, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Coffin-Lowry Syndrome
Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Hyperconvex fingernails, Coarse hair, Scoliosis... OMIM:303600
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis OMIM:616914
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis OMIM:613454
Mend Syndrome
Cryptorchidism, Sacral dimple, Kyphosis ORPHA:401973
Mend Syndrome
Cryptorchidism, Sacral dimple, Kyphosis OMIM:300960
Alkaptonuria
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration OMIM:203500
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... OMIM:259770
Classic Homocystinuria
Kyphosis, Sparse scalp hair, Scoliosis ORPHA:394
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphoscoliosis, Cryptorchidism, Kyphosis, Pineal cyst, Scoliosis OMIM:300967
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Sparse eyebrow, Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Zttk Syndrome
Curly hair, Absent gallbladder, Sparse eyebrow, Kyphosis, Hemivertebrae, Scoliosis, Broad eyebrow OMIM:617140
Lymphedema-Distichiasis Syndrome
Yellow nails, Kyphosis, Distichiasis OMIM:153400
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis OMIM:239000
Frank-Ter Haar Syndrome
Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis OMIM:249420
Occipital Horn Syndrome
Thick hair, Kyphosis, Platyspondyly, Coarse hair, Scoliosis, Exostoses ORPHA:198
Wrinkly Skin Syndrome
Short nail, Cryptorchidism, Kyphosis, Scoliosis, Sparse hair, Fragile nails OMIM:278250
Branchiooculofacial Syndrome
Hypospadias, Supernumerary nipple, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Low poste... OMIM:113620
Primrose Syndrome
Sparse scalp hair, Hypergonadotropic hypogonadism, Absent facial hair, Bilateral cryptorchidism, ... OMIM:259050
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Williams Syndrome
Hypoplasia of penis, Sacral dimple, Hypogonadotropic hypogonadism, Abnormal fingernail morphology... ORPHA:904
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Scoliosis ORPHA:1969
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Platyspondyly, Kyphosis, Scoliosis OMIM:309000
Viss Syndrome
Exostosis of the external auditory canal, Sparse scalp hair, Alopecia, Kyphosis, Hypereosinophili... OMIM:619472
Alström Syndrome
Thoracic scoliosis, Precocious puberty in females, Hypergonadotropic hypogonadism, Frontal baldin... ORPHA:64
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis ORPHA:171629
Stickler Syndrome
Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:828
Marfan Syndrome
Kyphosis, Scoliosis, Spondylolisthesis ORPHA:558
Yunis-Varon Syndrome
Sparse scalp hair, Absent nipple, Hypospadias, Anterior concavity of thoracic vertebrae, Sparse e... OMIM:216340
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis OMIM:619482
Cerebrocostomandibular Syndrome
Kyphosis ORPHA:1393
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106

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.

Phenotype Allele Zygosity Sex Life Stage
Bone marrow - hyperplasia Cdk5rap2tm1a(EUCOMM)Wtsi HOM Early adult
Spleen - MPATH diagnostic term extramedullary hemopoiesis Cdk5rap2tm1a(EUCOMM)Wtsi HOM Early adult
Spleen - hyperplasia Cdk5rap2tm1a(EUCOMM)Wtsi HOM Early adult
Brain - hypoplasia Cdk5rap2tm1a(EUCOMM)Wtsi HOM Early adult
Testes - hypoplasia Cdk5rap2tm1a(EUCOMM)Wtsi HOM Early adult
Epididymis - hypoplasia Cdk5rap2tm1a(EUCOMM)Wtsi HOM Early adult

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 Cdk5rap2.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Centrosome function is critical during terminal erythroid differentiation. The EMBO journal (June 2022) Cdk5rap2tm1a(EUCOMM)Wtsi PMC9289712
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Cdk5rap2tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Cdk5rap2tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Cdk5rap2tm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Cdk5rap2tm1a(EUCOMM)Wtsi PMC5827107

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Cdk5rap2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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