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Gene: Ube2j2 MGI:2153608

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Gene Summary

Name:
ubiquitin-conjugating enzyme E2J 2
Synonyms:
Ubc6,  2400008G19Rik,  5730472G04Rik,  1200007B18Rik

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 mean corpuscular volume Ube2j2em1(IMPC)Rbrc HOM Late adult 1.92×10-07
abnormal platelet cell number Ube2j2em1(IMPC)Rbrc HOM   Late adult 6.98×10-05
abnormal epididymis morphology Ube2j2em1(IMPC)Rbrc HOM Early adult 0.00
abnormal liver morphology Ube2j2em1(IMPC)Rbrc HOM Late adult 0.00
increased mean corpuscular volume Ube2j2em1(IMPC)Rbrc HOM Early adult 1.08×10-06
small testis Ube2j2em1(IMPC)Rbrc HOM Early adult 0.00
decreased bone mineral density Ube2j2em1(IMPC)Rbrc HOM Early adult 2.07×10-07
decreased lymphocyte cell number Ube2j2em1(IMPC)Rbrc HOM Early adult 3.76×10-07
abnormal spatial working memory Ube2j2em1(IMPC)Rbrc HOM   Late adult 1.77×10-05
short tibia Ube2j2em1(IMPC)Rbrc HOM Early adult 1.23×10-08
abnormal testis morphology Ube2j2em1(IMPC)Rbrc HOM Early adult 0.00
female infertility Ube2j2em1(IMPC)Rbrc HOM Early adult 0.00
increased mean corpuscular hemoglobin Ube2j2em1(IMPC)Rbrc HOM Early adult 4.39×10-12
increased total body fat amount Ube2j2em1(IMPC)Rbrc HOM Early adult 8.24×10-06
male infertility Ube2j2em1(IMPC)Rbrc HOM Early adult 0.00
decreased body length Ube2j2em1(IMPC)Rbrc HOM Early adult 4.66×10-10
increased eosinophil cell number Ube2j2em1(IMPC)Rbrc HOM Early adult 9.57×10-05
decreased erythrocyte cell number Ube2j2em1(IMPC)Rbrc HOM Early adult 6.51×10-06
decreased leukocyte cell number Ube2j2em1(IMPC)Rbrc HOM Early adult 3.42×10-07
small epididymis Ube2j2em1(IMPC)Rbrc HOM Early adult 0.00
abnormal bone structure Ube2j2em1(IMPC)Rbrc HOM Early adult 1.03×10-06
increased startle reflex Ube2j2em1(IMPC)Rbrc HOM   Early adult 8.48×10-05
hyperactivity Ube2j2em1(IMPC)Rbrc HOM Early adult 3.49×10-06
abnormal blood urea nitrogen level Ube2j2em1(IMPC)Rbrc HOM Late adult 7.97×10-05
decreased bone mineral content Ube2j2em1(IMPC)Rbrc HOM Early adult 4.33×10-10
decreased lean body mass Ube2j2em1(IMPC)Rbrc HOM   Early adult 1.50×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Gross Pathology and Tissue Collection

Images

17 Images

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Gross Pathology and Tissue Collection

Images

6 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Human diseases caused by Ube2j2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Ube2j2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Bone Marrow Failure Syndrome 6
Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidis... OMIM:618849
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia ORPHA:517
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Reduced bone mineral density, Hyperactivity, Bone marro... OMIM:617052
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Osteoporosis, Female infertility, Primary ameno... OMIM:300604
Roifman Syndrome
Clinodactyly of the 5th finger, Broad femoral head, Irregular capital femoral epiphysis, Epiphyse... ORPHA:353298
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Limitation of joint mobility, Arthritis, Lymphopenia ORPHA:2582
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpuscular volu... ORPHA:232
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:205950
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol... ORPHA:93405
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Congenital Amegakaryocytic Thrombocytopenia
Decreased skull ossification, Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, Type I diabetes mellitus, T-cell acute lymphoblastic leukemias... OMIM:620044
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Diamond-Blackfan Anemia 6
Triphalangeal thumb, Macrocytic anemia, Tracheomalacia, Increased mean corpuscular volume, Persis... OMIM:612561
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Osteoporosis, Failure to thri... ORPHA:2169
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... OMIM:212050
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Craniosynostosis, Clubbing, Eosinophilia, Hip dislocation, Joint contracture of the hand OMIM:618523
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Osteopenia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Cellulitis, Ly... ORPHA:486
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Beta-Thalassemia Intermedia
Osteopenia, Reduced bone mineral density, Hypoparathyroidism, Cholelithiasis, Anemia of inadequat... ORPHA:231222
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils, Clinodactyly of the 5th finger, Ra... ORPHA:2760
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Cryptorchidism, Absent thumb, Aplasia/Hypoplasia of t... OMIM:612447
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Shwachman-Diamond Syndrome
Aplastic anemia, Macrocytic anemia, Abnormal finger morphology, Chronic neutropenia, Bone marrow ... ORPHA:811
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Immunodeficiency 88
Eosinophilia OMIM:619630
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Diamond-Blackfan Anemia 7
Osteopenia, Triphalangeal thumb, Macrocytic anemia, Increased mean corpuscular volume, Osteoporos... OMIM:612562
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia, Male infertility, Decreased cirrculating antimullerian hormone circulation, Bila... OMIM:261550
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... ORPHA:240
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:601859
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Immunodeficiency 32B
Anemia, Eosinophilia, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomegaly, Monocytope... OMIM:226990
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Roifman Syndrome
Clinodactyly of the 5th finger, Short metacarpal, Hip contracture, Irregular femoral epiphysis, S... OMIM:616651
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Cinca Syndrome
Anemia, Arthritis, Leukocytosis, Patellar overgrowth, Hepatosplenomegaly, Eosinophilia OMIM:607115
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
Trichothiodystrophy 6, Nonphotosensitive
Pes cavus, Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemoglobin, D... OMIM:616943
Classic Galactosemia
Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M... ORPHA:79239
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Erythroid hype... OMIM:617021
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Omenn Syndrome
Abnormal metaphysis morphology, Anemia, Thyroiditis, Abnormal lymphocyte morphology, Leukocytosis... ORPHA:39041
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Arthritis, Cellulitis, Weight loss, Eosinophilia, Fasciitis ORPHA:3165
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... OMIM:301099
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Splenomegaly, Hypogonadis... OMIM:615234
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Arthritis, Decreased FOXP3-expressing T cell count, Hypothyroidism, Failure to thrive, Ty... OMIM:304790
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:617576
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618152
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Majeed Syndrome
Delayed puberty, Anemia of inadequate production, Failure to thrive, Hepatosplenomegaly, Flexion ... OMIM:609628
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Slc35A2-Cdg
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hip subluxation, Abno... ORPHA:356961
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Reduced platelet alpha granules, Impaired collagen-ind... OMIM:619130
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplas... OMIM:274000
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Late-Onset Isolated Acth Deficiency
Anorexia, Normocytic anemia, Premature ovarian insufficiency, Hypoparathyroidism, Generalized bon... ORPHA:199299
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Beta-Thalassemia
Reduced bone mineral density, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal he... ORPHA:848
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Osteoporosis OMIM:620532
Hyperprolactinemia
Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Anorexia, Rickets, Reticulocytosis, Failure to thrive, Hepatosplenomegaly, Decreased mean corpusc... OMIM:611590
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Absent sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
16Q24.3 Microdeletion Syndrome
Proximal placement of thumb, Increased mean corpuscular volume, Micrognathia, Thrombocytopenia, D... ORPHA:261250
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Osteoporosis, Bone marrow hypocellula... OMIM:127550
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:619515
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:603909
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Hypospadias, Normochromic anemia, Acute myeloid l... ORPHA:124
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level OMIM:619009
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Umbilical hernia, ... OMIM:617237
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Narrow greater sciatic notch, Dislocated radial head, Delayed ossification of carpal bones, Epiph... OMIM:617425
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:301059
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, T ly... ORPHA:508533
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Aromatase Deficiency
Osteopenia, Male infertility, Genu valgum, Delayed epiphyseal ossification, Macroorchidism, postp... ORPHA:91
Cystic Echinococcosis
Splenic cyst, Bone cyst, Peritoneal abscess, Abnormality of the testis size, Ovarian cyst, Weight... ORPHA:400
Ziegler-Huang Syndrome
Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Bone marrow hypoce... OMIM:620501
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi... OMIM:620222
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology ORPHA:482
Pgm3-Cdg
Decreased/absent ankle reflexes, Decreased proportion of CD3-positive T cells, Neutropenia in pre... ORPHA:443811
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short 1st metacarpal, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplasti... OMIM:620076
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Anorexia, Failure to thrive secondary to recurrent infections, Decreased proportion of CD3-positi... ORPHA:169160
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Spermatogenic Failure 17
Male infertility OMIM:617214
Eosinophilic Gastroenteritis
Anemia, Leukocytosis, Dysphagia, Weight loss, Eosinophilia ORPHA:2070
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Anemia, Abnorma... ORPHA:3344
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... ORPHA:98870
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Hemochromatosis, Type 3
Anemia, Arthritis, Impotence, Lymphopenia, Amenorrhea, Hypogonadotropic hypogonadism, Neutropenia OMIM:604250
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Azoospermia, Reticulocytopenia, Abnormality of the hypothalamus-pitu... ORPHA:300298
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Eiken Syndrome
Fibular hypoplasia, Abnormal bone ossification, Delayed epiphyseal ossification, Abnormal acetabu... ORPHA:79106
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell... OMIM:618643
Immunodeficiency 8 With Lymphoproliferation
Attention deficit hyperactivity disorder, Lymphopenia OMIM:615401
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Aplasia of the thymus, B lymphocytopenia, Failure to thrive, Splenomegaly, Lympho... OMIM:602450
Immunodeficiency 7
Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Hypereosinophilia, Neutropenia OMIM:615387
Esophagitis, Eosinophilic, 1
Eosinophilia, Failure to thrive, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia, Failure to thrive, Dysphagia OMIM:613412
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Hypospadias, Sandal gap, Short tibia, Short ribs, Failure t... OMIM:607143
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hereditary Folate Malabsorption
Anorexia, Pancytopenia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia, Eosinophilia ORPHA:90045
Dominant Beta-Thalassemia
Delayed puberty, Genu valgum, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean c... ORPHA:231226
Wells Syndrome
Eosinophilia, Cellulitis ORPHA:901
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 11
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Flexion contracture OMIM:253600
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoplasia of the thymus, Failure to thrive, Severe B lymphocytopenia,... OMIM:603554
Spermatogenic Failure 78
Tapered sperm head, Male infertility, Microcephalic sperm head OMIM:620170
Diamond-Blackfan Anemia 1
Hypoplasia of the radius, Elevated red cell adenosine deaminase activity, Hypoplastic coccygeal v... OMIM:105650
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Male infertility, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Beta-Thalassemia Major
Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume... ORPHA:231214
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Osteopenia, Craniosynostosis, Cellulitis, Joint hypermobility, Eosinophilia, Recurrent fractures,... ORPHA:2314
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Sterile abscess, Micrognathia, Joint hypermobility, Eosinophilia, Cutaneous abscess, Osteomyelitis OMIM:618282
Microphthalmia With Limb Anomalies
Sandal gap, Tibial bowing, Short long bone, Broad thumb, Joint hypermobility, Hip dislocation, Fi... ORPHA:1106
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Delayed puberty, Neutropenia in presence of anti-neutropil antibodie... OMIM:615952
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Amelia, Decreased skull ossifica... OMIM:601163
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Dystonia OMIM:277410
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Adren... OMIM:102700
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Attention deficit hyperactivit... ORPHA:3000
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Tremor, Dysphagia, Decreased fertility, Testicular atrophy OMIM:313200
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Immunodeficiency 21
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp... OMIM:614172
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Pes cavus, Aggressive behavior, Hypospadias, Sandal gap, Hyperactivity, Tremor, ... OMIM:300354
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Failure to thrive, Micrognathia, Cryptorchidism, Self-mutilation, Gen... OMIM:604317
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Spermatogenic Failure 5
Macrozoospermia, Male infertility, Multiflagellar spermatozoa OMIM:243060
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Failure... ORPHA:911
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Hypospadias, Failure to thrive, Micrognathia, Short toe, Flexion contracture, Cry... ORPHA:98791
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Spermatogenic Failure 86
Abnormal sperm head morphology, Male infertility, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Immunodeficiency 23
Failure to thrive, Lymphopenia, Joint hypermobility, Eosinophilia, Abscess, Hemolytic anemia, Neu... OMIM:615816
Immunodeficiency 52
Abnormal natural killer cell count, T lymphocytopenia, Failure to thrive, Splenomegaly, Abnormal ... OMIM:617514
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Failure to thrive, Bone marrow hypocellularit... OMIM:619151
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Thyroid c... ORPHA:3261
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Metaphyseal chondrodysplasia, Lymphopenia OMIM:200900
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Unicoronal sy... OMIM:616300
Alveolar Echinococcosis
Abnormal adrenal morphology, Liver abscess, Anemia, Bone cyst, Abnormal spleen morphology, Abnorm... ORPHA:284
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 64
Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti... OMIM:619696
Wolfram Syndrome 1
Diabetes insipidus, Megaloblastic anemia, Tremor, Hypothyroidism, Sideroblastic anemia, Thrombocy... OMIM:222300
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells OMIM:619774
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Aspergillosis
Eosinophilia, Abnormal long bone morphology, Osteomyelitis, Neutropenia ORPHA:1163
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Mirage Syndrome
Rocker bottom foot, Anemia, Hypospadias, Radial club hand, Adrenal hypoplasia, Decreased body wei... OMIM:617053
Coccidioidomycosis
Abnormality of the female genitalia, Abnormal long bone morphology, Abnormal metacarpal morpholog... ORPHA:228123
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
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 1
Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:206100
Femoral-Facial Syndrome
Abnormal fibula morphology, Maternal diabetes, Inguinal hernia, Long penis, Abnormal pelvic girdl... ORPHA:1988
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Type II diabetes mellitus, D... OMIM:616860
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Elevated circulating parathyroid hormone level, Genu valgum, Fibular bowing, Generalized... OMIM:600785
O'Sullivan-Mcleod Syndrome
Eosinophilia, Tremor ORPHA:99965
Inverted Duplicated Chromosome 15 Syndrome
Gonadal dysgenesis, Clinodactyly of the 5th finger, Joint hypermobility, Hyperactivity, 2-3 toe s... ORPHA:3306
Aarskog-Scott Syndrome
Delayed puberty, Radial deviation of finger, Syndactyly, Elevated circulating luteinizing hormone... OMIM:305400
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Lead Poisoning
Abnormal T cell morphology, Anorexia, Cranial hyperostosis, Delayed puberty, Anemia, Decreased ma... ORPHA:330015
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Failure to thrive, Splenomegaly, Palmoplantar hyperkera... OMIM:617388
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Anemia, Thrombocytopenia, Lymphopenia, Type I diabetes mellitus, Cryptorchidism OMIM:620365
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin... OMIM:201170
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis, Weight loss ORPHA:2902
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cutaneous abscess, Failure to thrive, Decreased proportion of CD4-positive helper T cells, Eosino... OMIM:243700
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Failure to thrive, Hypothyroidism, Hepatosplenomegaly OMIM:618999
Premature Ovarian Failure 22
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:620548
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hypospadias, Anemia of inadequate production, Persistence of hemoglob... OMIM:613673
Peeling Skin Syndrome 1
Eosinophilia, Palmoplantar hyperhidrosis OMIM:270300
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Short metatarsal, Hyperactivity, Short metacarpal, Congenital hypothyroidism, Short ... OMIM:614613
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hemolytic an... ORPHA:444463
Lymphatic Filariasis
Ankle swelling, Knee osteoarthritis, Abnormal scrotum morphology, Orchitis, Epididymitis, Vaginal... ORPHA:2035
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Incontinentia Pigmenti
Finger syndactyly, Abnormal dental enamel morphology, Abnormal hand morphology, Absent hand, Devi... ORPHA:464
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Hemochromatosis, Type 1
Azoospermia, Impotence, Osteoporosis, Diabetes mellitus, Splenomegaly, Amenorrhea, Hypogonadotrop... OMIM:235200
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Omodysplasia 1
Limited elbow extension, Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Limited ... OMIM:258315
Idiopathic Hypereosinophilic Syndrome
Ankle swelling, Anemia, Arthritis, Clubbing, Myeloproliferative disorder, Leukocytosis, Myelofibr... ORPHA:3260
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Testicular atrophy OMIM:618165
Ghosal Hematodiaphyseal Dysplasia
Diaphyseal dysplasia, Increased bone mineral density, Myelofibrosis, Bone marrow hypocellularity,... OMIM:231095
Symptomatic Form Of Hfe-Related Hemochromatosis
Stiff interphalangeal joints, Erectile dysfunction, Arthritis, Decreased libido, Infertility, Ost... ORPHA:465508
Microcephaly-Micromelia Syndrome
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... OMIM:251230
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Hypospadias,... OMIM:164745
Ataxia-Telangiectasia
Delayed puberty, Tremor, Abnormal testis morphology, Failure to thrive, Type II diabetes mellitus... ORPHA:100
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Decreased circulatin... OMIM:250790
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri... ORPHA:96334
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Shwachman-Diamond Syndrome 1
Narrow greater sciatic notch, Anemia, Acute myeloid leukemia, Metaphyseal sclerosis, Pancytopenia... OMIM:260400
Fanconi Anemia, Complementation Group A
Male infertility, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Comple... OMIM:227650
Lesch-Nyhan Syndrome
Podagra, Megaloblastic anemia, Dystonia, Opisthotonus, Dysphagia, Self-injurious behavior, Choreo... OMIM:300322
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia/Hypoplasia of ... ORPHA:3320
Seckel Syndrome 1
Clitoral hypertrophy, Talipes, Hypospadias, Sandal gap, Pancytopenia, Dislocated radial head, Con... OMIM:210600
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Reduced bone mineral density, Joint stiffness, Leukopenia, Splenomegaly, Lymphopenia, Joint hyper... OMIM:620210
Acromesomelic Dysplasia 3
Radial deviation of finger, Aplasia of the proximal phalanx of the 2nd finger, Elevated circulati... OMIM:609441
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Genital ulcers, Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Tooth abscess, Thrombocytopenia, Decreased eosinophil count, Cellu... ORPHA:2686
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
47,Xyy Syndrome
Male infertility, Finger clinodactyly, Hypospadias, Increased serum testosterone level, Azoosperm... ORPHA:8
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Hyperactivity DECIPHER:39
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia, Thyroiditis, Weight loss ORPHA:139402
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
Loeffler Endocarditis
Eosinophilia, Weight loss ORPHA:75566
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... OMIM:258860
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Abnormal fear-induced behavior, Resting tremor, Hyperactivity, Tremor, Obesity, Macroor... ORPHA:3077
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia OMIM:247800
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy... ORPHA:166016
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Fragile X Syndrome
Congenital macroorchidism, Hyperactivity, Metacarpophalangeal joint hyperextensibility, Macroorch... OMIM:300624
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy, Pancytopenia OMIM:613987
2Q23.1 Microdeletion Syndrome
Clinodactyly of the 5th finger, Sandal gap, Hypoplasia of penis, Hyperactivity, Polyphagia, Short... ORPHA:228402
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Reduced bon... ORPHA:90796
Camurati-Engelmann Disease
Delayed puberty, Abnormal femur morphology, Cachexia, Leukopenia, Splenomegaly, Hypogonadism, Cra... ORPHA:1328
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Hyperactivity, 2-3 toe syndactyly, Motor stereotypy, Lymphopenia... ORPHA:391307
Netherton Syndrome
Failure to thrive, Hypereosinophilia OMIM:256500
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Arthritis, Dysphagia, Weight loss ORPHA:183
Cushing Disease
Increased circulating ACTH level, Amenorrhea, Decreased eosinophil count, Secondary amenorrhea, I... ORPHA:96253
Igg4-Related Aortitis
Hypereosinophilia, Weight loss ORPHA:449400
X-Linked Intellectual Disability, Cabezas Type
Pes cavus, Clinodactyly of the 5th finger, Aggressive behavior, Sandal gap, Hypoplasia of penis, ... ORPHA:85293
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly OMIM:258865
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Anemia of inadequate production, Impotence, Female hypogonadism, Hypogonadi... ORPHA:91349
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Pes cavus, Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreas... OMIM:308700
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Osteopenia, Lateral displacement of the femoral head, Elevated circul... OMIM:242900
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short long bone... OMIM:613091
Poems Syndrome
Erectile dysfunction, Metaphyseal sclerosis, Diabetes mellitus, Clubbing of fingers, Abnormality ... ORPHA:2905
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Elliptocytosis, Anisocytosis, T... OMIM:300835
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Neutrophilia, Leukocytosis, Neutropenia ORPHA:293173
Hypophosphatemic Rickets, X-Linked Dominant
Enamel hypomineralization, Rickets, Elevated circulating parathyroid hormone level, Genu valgum, ... OMIM:307800
Occipital Horn Syndrome
Large iliac wing, Absent tibia, Dysphagia, Aplasia/hypoplasia of the humerus, Joint hypermobility... ORPHA:198
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Hereditary Methemoglobinemia
Athetosis, Small for gestational age, Limb dystonia, Methemoglobinemia ORPHA:621
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:619938
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Confusion, Reticulocytosis, Increased blood urea nitrogen, Prolonged neonatal jaundice,... OMIM:274150
Kallmann Syndrome With Spastic Paraplegia
Pes cavus, Decreased circulating follicle stimulating hormone concentration, Decreased circulatin... OMIM:308750
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Cholelithiasis, Reticulocytosis, Hepatosplenomegal... ORPHA:846
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Anemia, Clinodactyly of the 5th finger, Hypoplasia of penis, Male pseudo... ORPHA:847
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, 11 pairs of ribs, Proximal placement of th... OMIM:618624
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Increased body weight, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lymphope... ORPHA:99889
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Elevated circulating parathyroid hormone level, Delayed epiphyseal ossification, Enlarge... ORPHA:289157
Sarcoidosis
Enlarged lacrimal glands, Scarring, Abnormality of the adrenal glands, Anemia, Diabetes insipidus... ORPHA:797
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Short femur, Short tibia, Talipes equinovarus OMIM:620306
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Orofaciodigital Syndrome Type 2
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Hypop... ORPHA:2751
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Elliptocytosis 3
Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume OMIM:617948
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Systemic Lupus Erythematosus 17
Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia OMIM:301080
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly of the 5th finger, Hyperactivity, Osteoporosis, Attention deficit hyperactivity diso... ORPHA:73272
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Angiostrongyliasis
Hypereosinophilia, Stiff neck ORPHA:74
Incontinentia Pigmenti
Breast hypoplasia, Scarring, Breast aplasia, Hypoplastic nipples, Leukocytosis, Eosinophilia, Sup... OMIM:308300
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss ORPHA:1164
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Cryptorchidism, Craniosynostosis OMIM:218550
Spermatogenic Failure 38
Abnormal sperm head morphology, Male infertility, Tapered sperm head, Oligozoospermia, Coiled spe... OMIM:618433
Fg Syndrome 3
Hyperactivity, Broad thumb, Joint contracture, Broad hallux, Cryptorchidism OMIM:300406
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Abnormal pancreas morp... ORPHA:449432
Castleman Disease
Anemia, Myelofibrosis, Thrombocytopenia, Weight loss, Decreased mean corpuscular volume ORPHA:160
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Shor... OMIM:263520
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Failure to thrive, Ellip... OMIM:618278
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Immunodeficiency 76
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Laryngotra... ORPHA:56305
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... ORPHA:99429
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Hyperostosis, Abnormal eosinophil morphology, Arthritis, Hypoplasia of th... ORPHA:906
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Cryptorchidism, Midline central nervous system lipomas, Mesomelic leg shorte... OMIM:603671
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Ambiguous genitalia, male, Partial development of the penile shaft, Exaggerated startle response,... OMIM:608800
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Radial deviation of finger, Hypochromic microcytic anemia, Hypospadias, Talipes e... OMIM:301040
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Tremor, Opisthotonus, Methemoglobinemia OMIM:250800
Cartilage-Hair Hypoplasia
Limited elbow extension, Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macr... OMIM:250250
Pediatric-Onset Graves Disease
Polydipsia, Increased circulating T4 concentration, Increased circulating free T3, Craniosynostos... ORPHA:525731
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter, Female infertility OMIM:617577
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... ORPHA:3035
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Recurrent hand flapping, Persistence of hemoglobin F, Micrognathia, Joint hypermobility, Self-inj... OMIM:617101
Myotonic Dystrophy 1
Obsessive-compulsive trait, Cholelithiasis, Dysphagia, Hypogonadism, Testicular atrophy OMIM:160900
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility, Clitoral hypertrophy, Long foot, Hyperinsulinemia, Cystic angiomatosis of bo... OMIM:269700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612924
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Reduced bone mineral density, Anemia, Inguinal hernia, Lymphopeni... ORPHA:935
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Reduced bone mineral density, Abnormal forearm bone morphology, Splayed toes, Hy... ORPHA:99413
Turner Syndrome
Delayed puberty, Reduced bone mineral density, Abnormal forearm bone morphology, Splayed toes, Hy... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Reduced bone mineral density, Abnormal forearm bone morphology, Splayed toes, Hy... ORPHA:99228
Monosomy X
Delayed puberty, Reduced bone mineral density, Abnormal forearm bone morphology, Splayed toes, Hy... ORPHA:99226
Primary Ciliary Dyskinesia
Male infertility, Clubbing, Asplenia, Abnormal sperm motility, Female infertility, Polysplenia ORPHA:244
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Cervix cancer, Short 4th metacarpal, H... ORPHA:1772
Macrocephaly/Autism Syndrome
Large for gestational age, Obesity, Splenomegaly, Lymphopenia, Joint hypermobility, Penile freckl... OMIM:605309
Thymoma
Aplastic anemia, Neoplasm of the thyroid gland, Prostate neoplasm, Rheumatoid arthritis, Pure red... ORPHA:99867
Reni Syndrome
Hypothyroidism, Hypogonadism, Lymphopenia, Cryptorchidism, Micropenis, Adrenal insufficiency OMIM:617575
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Hyperactivity, Camptodactyly, Failure to thrive, Obesity, Hip dy... ORPHA:412035
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Monocytosis, Inguinal hernia, Panniculitis, Hypop... OMIM:612541
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612926
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Cellulitis, Leukopenia, Hepatosplenomegaly, L... OMIM:618986
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, Panniculitis, B lymphocytopenia, Reticulocytopenia, Short metacarpal, Rhizomelic arm shor... ORPHA:508542
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Lymphopenia, B lymphocytopenia, T lymphocytopenia ORPHA:277
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Premature ovarian insufficiency, Female infertility OMIM:619518
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Panniculitis, Arthritis, Failure to thrive, Thrombocytopenia, Splenomegaly, Lipodystrophy... OMIM:617591
21Q22.11Q22.12 Microdeletion Syndrome
Anemia, Tongue thrusting, Cone-shaped epiphyses of the phalanges of the hand, Hyperactivity, Hypo... ORPHA:261323
Cowden Syndrome 1
Palmoplantar hyperkeratosis, Thyroiditis, Subcutaneous lipoma, Intention tremor, Hypothyroidism, ... OMIM:158350
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Decreased eosinophil count OMIM:619632
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Lymphopenia, D... OMIM:619846
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Stankiewicz-Isidor Syndrome
Hypospadias, Hyperactivity, 2-3 toe syndactyly, Micrognathia, Absent thumb, Short thumb, Shawl sc... OMIM:617516
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Poorly ossified cervical vertebrae, Tracheomalacia, Tracheo... ORPHA:140
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, T lymphocytopenia, Decreased proportion of CD4-positive h... OMIM:619510
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Anterior pituitary hypoplasia, Midline central nervous system lipomas, Aplas... ORPHA:1827
Igg4-Related Ophthalmic Disease
Enlarged lacrimal glands, Prostatitis, Abnormality of the anterior pituitary, Sialadenitis, Thyro... ORPHA:449563
Ataxia-Telangiectasia
Delayed puberty, Abnormal spermatogenesis, Tremor, Hypoplasia of the thymus, T lymphocytopenia, F... OMIM:208900
Igg4-Related Pachymeningitis
Eosinophilia, Parotitis, Dysphagia ORPHA:449427
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pheochromocytoma, Polycythemia, Papillary cystadenoma of the epididymis... OMIM:193300
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Sneddon Syndrome
Atrophic scars, Tremor, Lymphopenia OMIM:182410
Igg4-Related Kidney Disease
Prostatitis, Abnormality of the anterior pituitary, Sialadenitis, Thyroiditis, Weight loss, Eosin... ORPHA:449395
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Congenital diaphragmatic hernia, Finger syndact... ORPHA:958
Atelosteogenesis, Type I
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Hypospadias, Accessory spleen, Abnormal vagina morphology, Upper limb u... OMIM:236680
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Pes cavus, Premature ovarian insufficiency, Secondary amenorrhea, Resting tremor, Hypergonadotrop... OMIM:157640
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Insulin-Like Growth Factor I Deficiency
Osteopenia, Clinodactyly of the 5th finger, Hyperactivity, Decreased body weight, Micrognathia, E... OMIM:608747
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Short Stature, Microcephaly, And Endocrine Dysfunction
Pes cavus, Anemia, Truncal obesity, Inguinal hernia, Hypothyroidism, Diabetes mellitus, Limb unde... OMIM:616541
Caffey Disease
Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Periosteal thickening of lon... OMIM:114000
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Craniosynostosis, Joint hypermobility, Dysphagia, Recurrent cutaneous abscess formati... OMIM:147060
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Long foot, Hyperinsulinemia, Cystic angiomatosis of bone, Decreased serum l... OMIM:608594
Saul-Wilson Syndrome
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... OMIM:618150
Floating-Harbor Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Broad thumb, Umbilica... OMIM:136140
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Hyperactivity, Abnormal femoral head morphology, Short long bone, L... ORPHA:239
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Neutropenia, Bilateral cryptorchidism, Lymphopenia OMIM:616395
Stiff-Person Syndrome
Diabetes mellitus, Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c... ORPHA:760
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased susceptibility to fractures, Cutaneous abscess, Lymphopenia, Joint hypermobility, Reduc... OMIM:619752
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Schistocytosis, Short long bone, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic ane... OMIM:301110
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Anemia, Oligozoospermia, Abnormal testis morphology... ORPHA:85450
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, 11 pairs of ribs, Craniosynostosis, Accessory spleen, Hypothyroidism, Absence of subcutan... OMIM:620005
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... OMIM:110100
Glycine Encephalopathy With Normal Serum Glycine
Genu recurvatum, Elbow flexion contracture, Exaggerated startle response, Hand clenching, Hip con... OMIM:617301
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ab... ORPHA:1788
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Charge Syndrome
Delayed puberty, Absent tibia, Dysphagia, Lymphopenia, Bifid femur, Absent radius, Umbilical hern... OMIM:214800
Schimke Immuno-Osseous Dysplasia
Abnormality of thyroid physiology, Anemia, Abnormal proportion of naive CD4 T cells, Abnormal fem... ORPHA:1830
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Congenital diaphragmatic hernia, Elbow flexion ... OMIM:200980
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Spondyloenchondrodysplasia With Immune Dysregulation
Short iliac bones, Metaphyseal sclerosis, Juvenile rheumatoid arthritis, Lymphopenia, T lymphocyt... OMIM:607944
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Limb joint contracture, Tremor, Exaggerated startle response OMIM:620327
Eisenmenger Syndrome
Hypochromic microcytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Clubbin... ORPHA:97214
Lymphangiectasia, Intestinal
Pedal edema, Lymphopenia OMIM:152800
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Macrocytic anemia, Inguinal hernia, Hyperactivity, Long fingers,... OMIM:614294
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Lymphopenia, Bilateral talipes equinovarus, Intention tremor, Micrognathia,... OMIM:619708
Distal Duplication 17Q
Pes cavus, Genu valgum, Rhizomelia, Accessory spleen, Hyperactivity, Arachnodactyly, Hand polydac... ORPHA:3379
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Floating-Harbor Syndrome
Dislocated radial head, Short metacarpal, Impulsivity, Epididymal cyst, Clinodactyly, Aggressive ... ORPHA:2044
Otopalatodigital Syndrome Type 2
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Hypospadias, Abnormal metacarpal morpho... ORPHA:90652
Von Hippel-Lindau Disease
Distal lower limb muscle weakness, Neoplasm of the pancreas, Pancreatic endocrine tumor, Adrenal ... ORPHA:892
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Icf Syndrome
Anemia, Lymphopenia, Micrognathia, Umbilical hernia, Abnormality of neutrophils ORPHA:2268
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Tracheobronchomalaci... OMIM:114290
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... ORPHA:2879
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Legius Syndrome
Polydactyly, Ovarian neoplasm, Clinodactyly of the 5th finger, Hyperactivity, Acute monocytic leu... ORPHA:137605
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ... OMIM:119800
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Elevated circulating growth hormone concentration, Decreased serum insulin-like gr... ORPHA:85327
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Polysplenia, Reduced sperm motility OMIM:613807
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Overweight, Persistence of hemoglobin F, Umbilical hernia OMIM:619769
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Hyperactivity, Exaggerated startle response, Impulsivity, Dystonia, Thrombocytopenia, ... OMIM:620423
Disabling Pansclerotic Morphea Of Childhood
Joint contracture, Neutropenia, Lymphopenia OMIM:620443
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... ORPHA:3144
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati... ORPHA:572333
Viss Syndrome
Rocker bottom foot, Generalized joint hypermobility, Pes planus, Genu valgum, Inguinal hernia, Co... OMIM:619472
Alkaptonuria
Increased susceptibility to fractures, Prostatitis, Reduced bone mineral density, Black pigment g... ORPHA:56
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad... OMIM:164900
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, T lymphocytopenia, Failure to thrive, Hepatosplenomegaly, Aplasia of the thymus, Abn... OMIM:242700
Plaa-Associated Neurodevelopmental Disorder
Rocker bottom foot, Hyperextensibility of the finger joints, Postaxial hand polydactyly, Exaggera... ORPHA:521426
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Anemia, Inguinal hernia, Pancytopenia, Joint hypermobility, Tracheomalacia, Umbilical hernia, Obe... OMIM:620654
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Tremor, Failur... OMIM:613179
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Joint stiffness, Failure to thrive, Leukopenia, Lymphopenia, Thrombocytosis OMIM:615934
Gm1 Gangliosidosis Type 1
Broad long bone diaphyses, Short long bone, Broad metacarpals, Flared iliac wing, Exaggerated sta... ORPHA:79255
Fibrochondrogenesis 1
Narrow greater sciatic notch, Joint contracture of the hand, Fibular hypoplasia, Rhizomelia, Clin... OMIM:228520
Bloom Syndrome
Premature ovarian insufficiency, Male infertility, Acute myeloid leukemia, Azoospermia, Decreased... ORPHA:125
Immunodeficiency 31C
Autoimmune hemolytic anemia, Osteopenia, Delayed puberty, Impaired lymphocyte transformation with... OMIM:614162
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Failure to t... ORPHA:276
Immunodeficiency 9
Amelogenesis imperfecta, Abnormal natural killer cell count, Hypoplasia of the thymus, Failure to... OMIM:612782
Orofaciodigital Syndrome Type 4
Rectovaginal fistula, Finger syndactyly, Monorchism, Perineal fistula, Postaxial hand polydactyly... ORPHA:2753
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Slender toe, Recurrent fractures, Abnormality of the Leydig cells, Camptodactyly, Os... ORPHA:3063
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Anemia, Abnormality of the endocrine system, Exaggerated startle response, Stereotypi... ORPHA:438213
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Arthritis, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia OMIM:616100
Tay-Sachs Disease
Limited elbow extension, Tremor, Limited knee extension, Exaggerated startle response, Precocious... ORPHA:845
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Pes cavus, Exaggerated startle response, Absent Achilles reflex, Flexion contracture, Ankle clonus OMIM:609541
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Exaggerated startle response, Congenital hypothyroidism, Postaxial polydactyl... OMIM:617527
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Flexion contracture, Exaggerated startle response OMIM:618201
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Short ribs, Tibial bowing, Short metacarpal, Broad thumb, Umb... OMIM:304120
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Osteopenia, Delayed puberty, Abnormality of the endocrine system, Pr... ORPHA:391487
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Dystonia, Abnormal fear-induced behavior, Exaggerated startle response ORPHA:309246
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Granuloma, Hepatosplenomegaly, Splenomegaly, Abscess, Lymphopenia, Impaired oxi... OMIM:618935
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Agitation, Anemia, Panniculitis, Pancytopenia, Arthritis, Leukocytosis, Hashimoto thyroiditis, Bo... OMIM:615688
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Tongue thrusting, Athetosis, Blepharospasm, Limb dystonia, Exagge... OMIM:608643
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atre... OMIM:137920
Khan-Khan-Katsanis Syndrome
Anemia, Corneal scarring, Postaxial polydactyly, Failure to thrive, Micrognathia, Joint contractu... OMIM:618460
Sandhoff Disease
Hepatosplenomegaly, Impotence, Exaggerated startle response OMIM:268800
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Rectovaginal fistula, B lymphocytopen... ORPHA:35078
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Pes cavus, Multiple joint contractures, Exaggerated startle response, Hyporeflexia of lower limbs ORPHA:320406
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Sandal gap, Hyperactivity, B lympho... OMIM:251260
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Short finger, Clinodactyly of the 5th finger, Hypospadias, Joint hypermobility, Broad toe, Imperf... OMIM:619522
Ebola Hemorrhagic Fever
Thrombocytopenia, Leukopenia, Dysphagia, Lymphopenia ORPHA:319218
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Agitation, Truncal titubation, Clinodactyly of the 5th finger, Tremor, Exaggerated startle response OMIM:618056
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Abnormal erythrocyte ... ORPHA:2388
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe... OMIM:208500
Fusariosis
Lung abscess, Panniculitis, Arthritis, Brain abscess, Granuloma, Abnormality of the spleen, Lymph... ORPHA:228119
Leukodystrophy, Hypomyelinating, 13
Failure to thrive, Joint contracture, Exaggerated startle response OMIM:616881
Cystinosis, Nephropathic
Polydipsia, Rickets, Male infertility, Genu valgum, Hypophosphatemic rickets, Delayed puberty, Pr... OMIM:219800
Generalized Pustular Psoriasis
Arthritis, Leukocytosis, Obesity, Lymphopenia, Overweight, Pedal edema ORPHA:247353
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response ORPHA:309155
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Agitation, Hyperactivity, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis ... ORPHA:424
Hyperekplexia 1
Umbilical hernia, Exaggerated startle response, Inguinal hernia, Hip dislocation OMIM:149400
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Kinsship Syndrome
Polydactyly, Osteopenia, Fibular hypoplasia, Dislocated radial head, Failure to thrive, Micrognat... OMIM:619297
Tropical Endomyocardial Fibrosis
Eosinophilia, Cachexia, Splenomegaly, Pedal edema ORPHA:75565
Tibial Hemimelia
Absent tibia OMIM:275220
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Joint contracture, Exaggerated startle response OMIM:617864
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Spastic Tetraplegia And Axial Hypotonia, Progressive
Overlapping toe, Exaggerated startle response, Ankle clonus OMIM:618598
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Radial deviation of finger, Male infertility, Hypospadias, Ameg... OMIM:163950
Hereditary Sensory And Autonomic Neuropathy Type 4
Anemia, Abnormal hip bone morphology, Nail-biting, Hyperactivity, Self-mutilation, Corneal scarri... ORPHA:642
Familial Gestational Hyperthyroidism
Agitation, Hyperactivity, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis ... ORPHA:99819
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Inguinal hernia, Broad toe, Triphalan... OMIM:218330
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Failure to thrive,... OMIM:600802
Whim Syndrome
Parotitis, Abnormal neutrophil morphology, Cervix cancer, Lymphopenia, Cellulitis, Neutropenia ORPHA:51636
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... OMIM:300373
Stiff Person Spectrum Disorder
Hypothyroidism, Diabetes mellitus, Exaggerated startle response ORPHA:3198
Ciliary Dyskinesia, Primary, 1
Absent frontal sinuses, Male infertility, Asplenia OMIM:244400
Marburg Hemorrhagic Fever
Anorexia, Neutrophilia in presence of infection, Arthritis, Abnormal lymphocyte morphology, Retic... ORPHA:99826
Hyperekplexia 3
Exaggerated startle response, Hiatus hernia OMIM:614618
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Cystic Fibrosis
Osteopenia, Absent vas deferens, Male infertility, Decreased body mass index, Osteoporosis, Failu... ORPHA:586
Hyperekplexia 2
Exaggerated startle response, Hiatus hernia OMIM:614619
Steinert Myotonic Dystrophy
Obsessive-compulsive trait, Decreased response to growth hormone stimulation test, Male hypogonad... ORPHA:273
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Common Variable Immunodeficiency
Splenomegaly, Lymphopenia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Hemolytic a... ORPHA:1572
Asparagine Synthetase Deficiency
Long foot, Tremor, Exaggerated startle response, Failure to thrive, Micrognathia, Large hands OMIM:615574
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Clitoral hypertrophy, Enlarged labia minora, Fibular aplasia, Maternal ... ORPHA:3404
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Calf muscle hypertrophy, Flexion contracture, Exaggerated startle response OMIM:253800
Dermatomyositis
Abnormal eosinophil morphology, Arthritis, Dysphagia, Weight loss, Cellulitis, Chondrocalcinosis ORPHA:221
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphopenia OMIM:617827
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Short humerus, Dysphagia, Short femur, Tapered finger OMIM:618367
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response OMIM:620451
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Fibular hypoplasia, Hip subluxation, Decreased response to growth hormone stimulation test, Hypos... ORPHA:444077
Cystic Fibrosis
Failure to thrive, Male infertility, Hepatosplenomegaly, Clubbing of fingers OMIM:219700

Histopathology

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

There is no histopathology data for Ube2j2

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 Ube2j2.

No publications found that use IMPC mice or data for Ube2j2.

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
Ube2j2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ube2j2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ube2j2tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ube2j2tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ube2j2em1(IMPC)Rbrc Exon Deletion Mice

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