Gene Summary

poly (ADP-ribose) polymerase family, member 12

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 testis morphology Parp12tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased basophil cell number Parp12tm1.1(KOMP)Vlcg HOM   Early adult 7.55×10-07
small testis Parp12tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased bronchoconstrictive response Parp12tm1.1(KOMP)Vlcg HOM Early adult 5.45×10-09
increased pulmonary respiratory rate Parp12tm1.1(KOMP)Vlcg HOM Early adult 1.10×10-06
increased mean platelet volume Parp12tm1.1(KOMP)Vlcg HOM Early adult 2.09×10-06
decreased pulmonary ventilation Parp12tm1.1(KOMP)Vlcg HOM Early adult 1.89×10-06
increased neutrophil cell number Parp12tm1.1(KOMP)Vlcg HOM Early adult 1.18×10-06
increased lymphocyte cell number Parp12tm1.1(KOMP)Vlcg HOM Early adult 7.00×10-05
female infertility Parp12tm1.1(KOMP)Vlcg HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Duodenum  Section images heterozygote 33.33% (1 of 3)
Epididymis  Section images heterozygote 66.67% (2 of 3)
Gall bladder  Wholemount images heterozygote 33.33% (1 of 3)
Ileum  Section images heterozygote 33.33% (1 of 3)
Kidney  Wholemount images  Section images heterozygote 100% (3 of 3)
Oviduct  Section images heterozygote 33.33% (1 of 3)
Stomach  Section images heterozygote 33.33% (1 of 3)
Testis  Wholemount images  Section images heterozygote 33.33% (1 of 3)
Vas deferens  Section images heterozygote 66.67% (2 of 3)
Adrenal gland N/A heterozygote 0.0% (0 of 3)
Aorta N/A heterozygote 0.0% (0 of 3)
Blood N/A heterozygote 0.0% (0 of 3)
Bone marrow N/A heterozygote 0.0% (0 of 3)
Brain N/A heterozygote 0.0% (0 of 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 33.33% (1 of 3)
Cerebellum N/A heterozygote 0.0% (0 of 3)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 33.33% (1 of 3)
Diaphragm N/A heterozygote 0.0% (0 of 3)
Esophagus N/A heterozygote 0.0% (0 of 3)
Eye N/A heterozygote 0.0% (0 of 3)
Gonadal fat pad N/A heterozygote 0.0% (0 of 3)
Harderian gland N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 3)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 3)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 3)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 3)
Midbrain N/A heterozygote 0.0% (0 of 3)
Olfactory lobe N/A heterozygote 0.0% (0 of 3)
Ovary N/A heterozygote 0.0% (0 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Parotid gland N/A heterozygote 0.0% (0 of 3)
Penis N/A heterozygote 0.0% (0 of 3)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 3)
Prostate gland N/A heterozygote 0.0% (0 of 3)
Quadriceps N/A heterozygote 0.0% (0 of 3)
Sciatic nerve N/A heterozygote 0.0% (0 of 3)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 3)
Submandibular gland N/A heterozygote 0.0% (0 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A heterozygote 0.0% (0 of 3)
Tongue N/A heterozygote 0.0% (0 of 3)
Trachea N/A heterozygote 0.0% (0 of 3)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 3)
Urinary bladder N/A heterozygote 0.0% (0 of 3)
Uterus N/A heterozygote 0.0% (0 of 3)
Vagina N/A heterozygote 0.0% (0 of 3)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 3)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood 0.0%
bone marrow 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
chest bone Unavailable
colon 9.6% (12 of 125)
diaphragm 0.0%
duodenum 1.63% (2 of 123)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.35% (2 of 566)
hindlimb 0.0%
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
ileum 9.68% (12 of 124)
jejunum 4.84% (6 of 124)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
stomach pyloric region 0.0%
striatum 0.53% (3 of 567)
sublingual gland 0.0%
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
tongue 3.25% (4 of 123)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.03% (15 of 372)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Forepaw

10 Images


XRay Images Hind Leg and Hip

10 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

18 Images

Adult LacZ

LacZ Images Wholemount

3 Images

Human diseases caused by Parp12 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 Parp12 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Menorrhagia, Epistaxis, Leukocyte inclusion bodies, Giant platelets,... OMIM:155100
Sebastian syndrome
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Giant platelets, Thrombocytop... OMIM:605249
Bleeding Disorder, Platelet-Type, 24
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, I... OMIM:619271
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Hypoxemia, Neutropenia, Pneumonia, Respiratory distress, Abnormal platelet granules, Giant platel... ORPHA:238459
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Menorrhagia, Spontaneous, recurrent ... ORPHA:182050
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Abnormality of the endocrine system, Giant platelets OMIM:608404
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Bernard-Soulier Syndrome
Menorrhagia, Epistaxis, Impaired ristocetin-induced platelet aggregation, Giant platelets, Thromb... OMIM:231200
Fechtner syndrome
Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Giant platelets, Thrombocyt... OMIM:153640
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Menorrhagia, Macrothrombocytopenia, Anemia OMIM:616176
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Menorrhagia, Increased mean platelet volume, Stomatocytosis, Epistaxis, Splenomegaly, Hemolytic a... OMIM:153670
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Hypoxemia, Leukopenia, Increased circulating procalcitonin concentration, Pneumonia... ORPHA:36238
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Cryptorchidism, Macrothrombocytopenia, Anemia o... ORPHA:67044
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Tachypnea, Pulmonary arterial hypertension, Anemia, Thrombocytopenia, Cryptorchidism OMIM:614857
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Pelger-Huet Anomaly
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... OMIM:169400
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Bone Marrow Failure Syndrome 5
Testicular atrophy, Anemia, Pure red cell aplasia, Hypogonadism OMIM:618165
Cholesterol Pneumonia
Tachypnea, Cough, Pneumonia OMIM:215030
Bernard-Soulier Syndrome
Menorrhagia, Decreased platelet glycoprotein Ib-IX-V, Spontaneous, recurrent epistaxis, Impaired ... ORPHA:274
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis OMIM:267450
Avian Influenza
Productive cough, Hypoxemia, Leukopenia, Pneumonia, Tachypnea, Pneumothorax, Spontaneous abortion... ORPHA:454836
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... ORPHA:60032
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Tachypnea, Cough, Decreased DLCO, Restrictive ventilatory defect, Dyspnea OMIM:616414
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Splenomegaly, Decreased basophil count, Decreased proportion of memory B cells, P... OMIM:618394
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Acute infectious pneumonia, Restrict... ORPHA:264675
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Cryptogenic Organizing Pneumonia
Wheezing, Leukocytosis, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Neutrop... ORPHA:1302
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... ORPHA:98826
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Hypoxemia, Hypochromia, Stomatocytosis, Tachypnea, Spontaneo... ORPHA:71275
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Cough, Respiratory distress, Intercostal retractions, Reduced forced vital ... ORPHA:91359
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, Dyspnea, HbH hemo... ORPHA:231401
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... OMIM:210250
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... OMIM:614470
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Respiratory distress, Respiratory failure, Cough OMIM:263000
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly OMIM:602079
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis OMIM:617718
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia, Epistaxis OMIM:273900
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Tachypnea, Decreased DLCO, Restrictive ventilator... OMIM:300770
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Acute Interstitial Pneumonia
Reduced hematocrit, Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Decreased DLCO, Nonproductive... ORPHA:79126
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Neonatal respiratory distress, Congenital hypothyroidism, Crackles, Tachypne... OMIM:610978
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:615285
Takenouchi-Kosaki Syndrome
Hypospadias, Thrombocytopenia, Cryptorchidism, Increased mean platelet volume OMIM:616737
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia, Testicular atrophy OMIM:613987
Whim Syndrome 1
Bronchiectasis, Neutropenia, Abnormal morphology of female internal genitalia, Abnormality of fem... OMIM:193670
Propionic Acidemia
Neutropenia, Tachypnea, Apnea, Anemia, Pancytopenia, Thrombocytopenia OMIM:606054
Holocarboxylase Synthetase Deficiency
Tachypnea, Thrombocytopenia, Respiratory distress ORPHA:79242
Joubert Syndrome 7
Tachypnea, Central apnea, Neonatal breathing dysregulation, Episodic tachypnea OMIM:611560
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Central apnea, Abnormal reproductive system morphology, Abnor... ORPHA:1916
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia, Recurrent pneumonia, ... OMIM:619281
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress, Maternal diabetes ORPHA:45452
Hemochromatosis, Type 3
Neutropenia, Amenorrhea, Hypogonadotropic hypogonadism, Anemia, Lymphopenia, Impotence OMIM:604250
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Reduced forced vital capacity, Respiratory insufficiency, Premature ovarian i... OMIM:619518
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Acute infecti... ORPHA:723
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory insufficiency, Tachypnea, Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Ret... OMIM:618278
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Holocarboxylase Synthetase Deficiency
Tachypnea, Thrombocytopenia, Hyperventilation OMIM:253270
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Respiratory failure, Nasal flaring, Atelectasis ORPHA:70587
Cardiocranial Syndrome, Pfeiffer Type
Hypospadias, Micropenis, Cryptorchidism, Episodic tachypnea ORPHA:2872
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Thrombocytopenia 5
Anemia, Thrombocytopenia, Epistaxis, Neutropenia OMIM:616216
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Central hypothyroidism, Anemia, Hypochromic anemia, Exertional dyspnea, Lymphocytos... ORPHA:514
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... OMIM:610913
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Chronic sinusitis, Neutropenia OMIM:613502
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Respiratory failure, Dyspnea ORPHA:178320
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Neonatal respiratory distress, Asplenia, Bronchiectasis, Chronic rhin... ORPHA:244
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia, Hydrocele testis OMIM:616738
Thrombocytopenia 1
Decreased mean platelet volume, Epistaxis, Congenital thrombocytopenia, Intermittent thrombocytop... OMIM:313900
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Ambiguous ge... OMIM:607330
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Abscess, Intermittent thr... OMIM:150550
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Pneumonia, Iron defi... OMIM:600903
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Tachypnea, Anemia, Lymphopenia OMIM:615934
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Apnea, ... ORPHA:2257
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... ORPHA:169154
Pulmonary Alveolar Microlithiasis
Testicular microlithiasis, Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, ... ORPHA:60025
Syndromic Diarrhea
Thrombocytosis, Increased mean platelet volume, Hypoplasia of the thymus, Splenomegaly, Lymphopen... ORPHA:84064
Hemochromatosis, Type 1
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, Diabete... OMIM:235200
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Trichohepatoenteric Syndrome 1
Hypospadias, Thrombocytosis, Increased mean platelet volume OMIM:222470
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... OMIM:308240
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Respiratory failure, Tachypnea, Ventilator dependence with inability to wean, Inspiratory stridor OMIM:604320
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress ORPHA:148
Hyperparathyroidism, Neonatal Severe
Elevated circulating parathyroid hormone level, Tachypnea, Anemia, Splenomegaly, Primary hyperpar... OMIM:239200
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Acute leukemia, Splenomegaly, Myeloproliferative disorder, Respiratory failure, Thr... ORPHA:3226
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Tachypnea, Parasept... OMIM:610921
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Beta-Ketothiolase Deficiency
Tachypnea, Leukocytosis, Cough, Thrombocytosis ORPHA:134
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Chronic pulmonary obstruction, Neutropenia, Leukopenia, Bronchiectasis, Abnorm... OMIM:618986
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia,... OMIM:618849
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Tachypnea, Apnea, Pulmonary arterial hypertension, Respiratory fai... OMIM:265120
Myotonic Dystrophy 1
Testicular atrophy, Respiratory distress, Cholelithiasis, Hypogonadism OMIM:160900
Atypical Rett Syndrome
Sudden episodic apnea, Abnormal pattern of respiration, Episodic tachypnea ORPHA:3095
Joubert Syndrome 3
Central apnea, Neonatal breathing dysregulation, Episodic tachypnea OMIM:608629
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Bacterial Toxic-Shock Syndrome
Sinusitis, Increased circulating myelocyte count, Pneumonia, Tachypnea, Abscess, Increased circul... ORPHA:36234
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia, Pneumonia OMIM:266265
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Thrombocytopenia, Increased mean platelet volume, Abnormality of the endocrine system ORPHA:487796
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Pyruvate Dehydrogenase Deficiency
Tachypnea, Dyspnea ORPHA:765
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Anemia, Neutrophilia, Abnormal testis morphology, Liver abscess ORPHA:54251
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Respiratory insufficiency, Leukopenia, Monocytosis, Hypoplasia of the thymus, Pulmon... OMIM:612541
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Citrullinemia Type I
Tachypnea ORPHA:247525
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Aspiration pneumonia, Episodic tachypnea ORPHA:79264
Wolfram Syndrome 1
Testicular atrophy, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Diabetes mell... OMIM:222300
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Female infe... ORPHA:91
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Thrombocytosis, Leukopenia, Tachypnea, Apnea, Anemia ORPHA:20
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tachypnea OMIM:220111
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Tachypnea, Pulmonary arterial hypertension OMIM:613320
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
Relapsing Fever
Leukocytosis, Leukopenia, Epistaxis, Anemia, Cough, Neutrophilia, Thrombocytopenia ORPHA:91547
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune thrombo... ORPHA:911
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Central hypoventilation, Apnea OMIM:619483
Tachypnea, Respiratory distress ORPHA:3299
Car T Cell Therapy-Associated Cytokine Release Syndrome
Respiratory failure, Hypoxemia, Tachypnea, Pleural effusion ORPHA:542323
Idiopathic Aplastic Anemia
Neutropenia, Epistaxis, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Interstitial pneumonitis, Cough, Lymphocytosis, Thyroiditis, Dyspnea ORPHA:139402
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Neutrophilia, Hepatosplenomegaly, Recurrent pneumonia, Pleural effusion, Thrombocyto... OMIM:619644
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Episodic tachypnea, Respiratory distress, Dyspnea, Intermittent hyper... ORPHA:348
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea, Abnormality of the hypothalamus-pituitary axis ORPHA:2318
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Tachypnea OMIM:201475
Abnormality of the adrenal glands, Central hypoventilation, Neoplasm of the adrenal gland, Abnorm... ORPHA:251992
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... ORPHA:90796
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Tachypnea, Spontaneous abortion, Hyperventilation, Aspiration pneumonia ORPHA:173
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea OMIM:615751
Biotinidase Deficiency
Tachypnea, Apnea, Splenomegaly OMIM:253260
Diffuse Cutaneous Mastocytosis
Wheezing, Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen ORPHA:79456
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Dyspnea OMIM:246400
Double Outlet Right Ventricle
Tachypnea, Hypoparathyroidism, Aplasia/Hypoplasia of the thymus ORPHA:3426
Herpes Simplex Virus Encephalitis
Leukocytosis, Respiratory failure requiring assisted ventilation, Neutrophilia ORPHA:1930
Coronary Arterial Fistula
Tachypnea, Exertional dyspnea, Pulmonary arterial hypertension, Orthopnea ORPHA:2041
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Joubert Syndrome
Apnea, Abnormality of the hypothalamus-pituitary axis, Abnormal pattern of respiration, Episodic ... ORPHA:475
Complete Atrioventricular Septal Defect
Wheezing, Crackles, Tachypnea, Elevated pulmonary artery pressure, Pulmonary venous hypertension,... ORPHA:1329
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Increased circulating gonadotropin level, Female infertility, Premature ovarian insuf... OMIM:110100
Congenitally Uncorrected Transposition Of The Great Arteries
Tachypnea, Hypoxemia, Maternal diabetes ORPHA:860
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis, Pancytopenia ORPHA:86843
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Central hypoventilation, Apnea, Respiratory insufficiency OMIM:300673
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation, Breathing dysregulation OMIM:618232
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Erectile dysfunction,... ORPHA:465508
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Tachypnea, Respiratory distress, Pneumonia, Episodic tachypnea ORPHA:26793
Inappropriate antidiuretic hormone secretion, External genital hypoplasia, Apnea, Respiratory dis... ORPHA:79330
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Neonatal respiratory distress, Tachypnea, Asthma, Respiratory failure requiring as... ORPHA:79345
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hypospadias, Recurrent aspiration pneumonia, Tachypnea, Apnea, Chronic lung disease, Supernumerar... ORPHA:397715
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Central hypoventilation, Apnea OMIM:618233
Multisystemic Smooth Muscle Dysfunction Syndrome
Tachypnea, Cryptorchidism, Pulmonary arterial hypertension OMIM:613834
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Adult-Onset Still Disease
Restrictive ventilatory defect, Leukocytosis, Neutrophilia, Splenomegaly ORPHA:829
Joubert Syndrome 2
Central apnea, Neonatal breathing dysregulation, Hypoplastic male external genitalia, Episodic ta... OMIM:608091
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alp... ORPHA:3261
Prader-Willi Syndrome
Hypoplastic labia minora, Adrenal insufficiency, Infertility, Type II diabetes mellitus, Oligomen... OMIM:176270
Congenital Tricuspid Valve Dysplasia
Tachypnea, Hypoxemia, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:555874
Obesity-Hypoventilation Syndrome
Hypoventilation OMIM:257500
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Tachypnea, Bile duct proliferation, Small scrotum, Anemia, Cough, Resp... OMIM:613658
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Atrial Septal Defect, Ostium Primum Type
Abnormal respiratory system physiology, Tachypnea, Pulmonary arterial hypertension, Exertional dy... ORPHA:99106
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Elevated circulating follicle stimu... ORPHA:572333
Postpoliomyelitis Syndrome
Hypoventilation, Respiratory insufficiency ORPHA:2942
Cocaine Intoxication
Wheezing, Tachypnea, Pneumothorax, Cough, Respiratory distress, Hyperventilation ORPHA:90068
Perry Syndrome
Respiratory arrest, Central hypoventilation, Hypoventilation, Respiratory insufficiency OMIM:168605
Serotonin Syndrome
Tachypnea ORPHA:43116
Wolcott-Rallison Syndrome
Central hypothyroidism, Neutropenia, Iron deficiency anemia, Lymphocytosis, Hypothyroidism, Neona... ORPHA:1667
Myasthenic Syndrome, Congenital, 20, Presynaptic
Hypoventilation, Apnea, Stridor OMIM:617143
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Hypopnea, Anemia, Respiratory distres... ORPHA:2330
Orofaciodigital Syndrome Type 6
Bilateral cryptorchidism, Apnea, Episodic tachypnea ORPHA:2754
Ethylene Glycol Poisoning
Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Respiratory distress, Splenomegaly OMIM:612852
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilateral cryptorchi... OMIM:305400
Muscular Dystrophy, Duchenne Type
Respiratory failure, Hypoventilation, Respiratory insufficiency OMIM:310200
Goodpasture Syndrome
Crackles, Tachypnea, Anemia, Cough, Exertional dyspnea, Increased DLCO, Restrictive ventilatory d... OMIM:233450
Lesch-Nyhan Syndrome
Testicular atrophy, Megaloblastic anemia OMIM:300322
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Familial Mediterranean Fever
Leukocytosis, Splenomegaly, Neutrophilia, Orchitis, Pleural effusion OMIM:249100
Exercise-Induced Malignant Hyperthermia
Tachypnea, Thrombocytopenia, Hypocapnia, Crackles ORPHA:466650
X-Linked Lymphoproliferative Disease
Increased B cell count, B lymphocytopenia, Increased T cell count, Splenomegaly, Absent natural k... ORPHA:2442
Joubert Syndrome 1
Central apnea, Neonatal breathing dysregulation, Episodic tachypnea OMIM:213300
Malignant Hyperthermia Of Anesthesia
Tachypnea, Hypercapnia ORPHA:423
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Respiratory distress, Hypoventilation, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Histiocytoid Cardiomyopathy
Tachypnea, Polycystic ovaries, Cough ORPHA:137675
Central Hypoventilation Syndrome, Congenital, 1
Hypoxemia, Hypercapnia, Apnea, Central hypoventilation, Hypoventilation, Nocturnal hypoventilation OMIM:209880
Pyruvate Carboxylase Deficiency
Tachypnea, Abnormal pattern of respiration ORPHA:3008
Synaptic Congenital Myasthenic Syndromes
Neonatal respiratory distress, Respiratory insufficiency, Pulmonary arterial hypertension, Exerti... ORPHA:98915
Arima Syndrome
Tachypnea, Dyspnea OMIM:243910
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Neutrophilia, Increased proportion of CD4-positive T cells OMIM:617099
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Thrombocytosis, Anemia, Cough, Splenomegaly, Myeloproliferative disorder, Hepatospl... ORPHA:3260
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weakness, Respi... ORPHA:70
Scorpion Envenomation
Tachypnea, Abnormal nasal mucus secretion, Priapism ORPHA:466677
Joubert Syndrome 5
Central apnea, Neonatal breathing dysregulation, Episodic tachypnea OMIM:610188
Kikuchi-Fujimoto Disease
Neutropenia, Leukopenia, Anemia, Splenomegaly, Lymphocytosis, Enlargement of parotid gland, Throm... ORPHA:50918
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea, Hypoplastic male external genitalia ORPHA:2751
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Respiratory insufficiency, Obstructive sleep... ORPHA:273
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea ORPHA:415
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Sterile abscess, Anemia, Acute myeloid leukemia, Neutro... ORPHA:3243
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation OMIM:606056
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypoventilation, Recurrent pneumonia, Sleep apnea OMIM:618493
Japanese Encephalitis
Abnormal pattern of respiration, Inappropriate antidiuretic hormone secretion, Respiratory paraly... ORPHA:79139
Aortic Arch Interruption
Tachypnea, Exertional dyspnea, Respiratory distress ORPHA:2299
Truncus Arteriosus
Tachypnea, Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertension, Aspirati... ORPHA:258
Bethlem Myopathy
Hypoventilation, Reduced maximal expiratory pressure ORPHA:610
Turner Syndrome
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:99413
Mosaic Monosomy X
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:99228
Monosomy X
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... ORPHA:99226
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the anterior pituitary, Obstructive sleep apnea, Abnormality of the endocrine syst... ORPHA:438213
Crimean-Congo Hemorrhagic Fever
Leukocytosis, Adrenal insufficiency, Leukopenia, Inappropriate antidiuretic hormone secretion, Ep... ORPHA:99827
Autosomal Recessive Polycystic Kidney Disease
Pancreatic cysts, Splenomegaly, Biliary hyperplasia, Hypersplenism, Hepatosplenomegaly, Recurrent... ORPHA:731
Leukocyte Adhesion Deficiency Type Ii
Leukocytosis, Anemia, Neutrophilia, Microcytic anemia, Recurrent pneumonia ORPHA:99843
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Obstructive sleep apnea, Premature adrenarche, Abnormality of the hypotha... ORPHA:293987
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypopnea, Apnea, Hypoventilation, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Hyper-Igd Syndrome
Leukocytosis, Hepatosplenomegaly, Neutrophilia, Splenomegaly OMIM:260920
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism ORPHA:3063
Charcot-Marie-Tooth Disease Type 4C
Hypoventilation, Respiratory insufficiency ORPHA:99949
Yellow Fever
Leukocytosis, Neutrophilia, Thrombocytopenia, Pancreatic hyperplasia ORPHA:99829


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 Parp12

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 Parp12.

No publications found that use IMPC mice or data for Parp12.

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MGI Allele Allele Type Produced
Parp12tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Parp12tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Parp12tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Parp12tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Parp12tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Parp12tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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