Gene Summary

Name:
tissue inhibitor of metalloproteinase 1
Synonyms:
TIMP-1,  Clgi

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 humerus morphology Timp1tm1b(EUCOMM)Hmgu HEM Early adult 3.72×10-11
abnormal femur morphology Timp1tm1b(EUCOMM)Hmgu HEM Early adult 2.60×10-09

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Stomach  Wholemount images hemizygote 100% (1 of 1)
Testis  Wholemount images hemizygote 100% (1 of 1)
Thyroid gland  Wholemount images hemizygote 100% (1 of 1)
Trachea  Wholemount images hemizygote 100% (1 of 1)
Adrenal gland N/A hemizygote 0.0% (0 of 1)
Adrenal gland N/A heterozygote 0.0% (0 of 1)
Aorta N/A hemizygote 0.0% (0 of 1)
Aorta N/A heterozygote 0.0% (0 of 1)
Bone N/A hemizygote 0.0% (0 of 1)
Bone N/A heterozygote 0.0% (0 of 1)
Brain N/A hemizygote 0.0% (0 of 1)
Brain N/A heterozygote 0.0% (0 of 1)
Brainstem N/A hemizygote 0.0% (0 of 1)
Brainstem N/A heterozygote 0.0% (0 of 1)
Brown adipose tissue N/A hemizygote 0.0% (0 of 1)
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Cartilage tissue N/A hemizygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A hemizygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 1)
Cerebral cortex N/A hemizygote 0.0% (0 of 1)
Cerebral cortex N/A heterozygote 0.0% (0 of 1)
Esophagus N/A hemizygote 0.0% (0 of 1)
Esophagus N/A heterozygote 0.0% (0 of 1)
Eye N/A hemizygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Gall bladder N/A hemizygote 0.0% (0 of 1)
Gall bladder N/A heterozygote 0.0% (0 of 1)
Heart N/A hemizygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Hippocampus N/A hemizygote 0.0% (0 of 1)
Hippocampus N/A heterozygote 0.0% (0 of 1)
Hypothalamus N/A hemizygote 0.0% (0 of 1)
Hypothalamus N/A heterozygote 0.0% (0 of 1)
Kidney N/A hemizygote 0.0% (0 of 1)
Kidney N/A heterozygote 0.0% (0 of 1)
Large intestine N/A hemizygote 0.0% (0 of 1)
Large intestine N/A heterozygote 0.0% (0 of 1)
Liver N/A hemizygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lower urinary tract N/A hemizygote 0.0% (0 of 1)
Lower urinary tract N/A heterozygote 0.0% (0 of 1)
Lung N/A hemizygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lymph node N/A hemizygote 0.0% (0 of 1)
Lymph node N/A heterozygote 0.0% (0 of 1)
Mammary gland N/A hemizygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 1)
Olfactory lobe N/A hemizygote 0.0% (0 of 1)
Olfactory lobe N/A heterozygote 0.0% (0 of 1)
Oral epithelium N/A hemizygote 0.0% (0 of 1)
Oral epithelium N/A heterozygote 0.0% (0 of 1)
Ovary N/A hemizygote Not available
Ovary N/A heterozygote 0.0% (0 of 1)
Oviduct N/A hemizygote Not available
Oviduct N/A heterozygote 0.0% (0 of 1)
Pancreas N/A hemizygote 0.0% (0 of 1)
Pancreas N/A heterozygote 0.0% (0 of 1)
Parathyroid gland N/A hemizygote 0.0% (0 of 1)
Parathyroid gland N/A heterozygote 0.0% (0 of 1)
Peripheral nervous system N/A hemizygote 0.0% (0 of 1)
Peripheral nervous system N/A heterozygote 0.0% (0 of 1)
Peyer's patch N/A hemizygote 0.0% (0 of 1)
Peyer's patch N/A heterozygote 0.0% (0 of 1)
Pituitary gland N/A hemizygote 0.0% (0 of 1)
Pituitary gland N/A heterozygote 0.0% (0 of 1)
Prostate gland N/A hemizygote 0.0% (0 of 1)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A hemizygote 0.0% (0 of 1)
Skeletal muscle N/A heterozygote 0.0% (0 of 1)
Skin N/A hemizygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Small intestine N/A hemizygote 0.0% (0 of 1)
Small intestine N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A hemizygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spleen N/A hemizygote 0.0% (0 of 1)
Spleen N/A heterozygote 0.0% (0 of 1)
Stomach N/A heterozygote 100% (1 of 1)
Striatum N/A hemizygote 0.0% (0 of 1)
Striatum N/A heterozygote 0.0% (0 of 1)
Testis N/A heterozygote Not available
Thymus N/A hemizygote 0.0% (0 of 1)
Thymus N/A heterozygote 0.0% (0 of 1)
Thyroid gland N/A heterozygote 100% (1 of 1)
Trachea N/A heterozygote 100% (1 of 1)
Uterus N/A hemizygote Not available
Uterus N/A heterozygote 0.0% (0 of 1)
Vascular system N/A hemizygote 0.0% (0 of 1)
Vascular system N/A heterozygote 0.0% (0 of 1)
White adipose tissue N/A hemizygote 0.0% (0 of 1)
White adipose tissue N/A heterozygote 0.0% (0 of 1)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A hemizygote 0.0% (0 of 1)
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote 0.0% (0 of 1)
Ear N/A hemizygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A hemizygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 1)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A hemizygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A hemizygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A hemizygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A hemizygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Handplate N/A hemizygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A hemizygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A hemizygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A hemizygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A hemizygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A hemizygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A hemizygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A hemizygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 1)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A hemizygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 1)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A hemizygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Oral cavity N/A hemizygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 1)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A hemizygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote 0.0% (0 of 1)
Tail somite N/A hemizygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A hemizygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Echo

M-Mode Images

28 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

3 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

2 Images

Human diseases caused by Timp1 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 Timp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Metaphyseal Chondrodysplasia, Pena Type
Metaphyseal chondrodysplasia OMIM:250300
Genochondromatosis
Metaphyseal chondromatosis of femur, Metaphyseal chondromatosis of humerus OMIM:137360
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Pacman Dysplasia
Bowing of the long bones, Epiphyseal stippling OMIM:167220
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Metaphyseal Anadysplasia 2
Metaphyseal widening, Bowing of the legs, Metaphyseal irregularity, Short femoral neck OMIM:613073
Genu Valgum, St. Helena Familial
Genu valgum OMIM:137370
Blount Disease, Adolescent
Genu varum, Bowing of the legs OMIM:259200
Prenatal Bowing
Bowing of the long bones OMIM:264050
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus, Hyperthyroidism, Miscarriage, Anemia ORPHA:99927
Pulmonary Blastoma
Recurrent pneumonia, Cough, Dyspnea, Pleuropulmonary blastoma, Weight loss ORPHA:64741
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Recurrent viral infections OMIM:308220
Endometriosis, Susceptibility To, 1
Endometriosis, Decreased fertility, Dysmenorrhea OMIM:131200
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Thoracic aortic aneurysm, Descending aortic dissection, Aortic aneurysm, Asc... OMIM:611788
Gonadoblastoma
Abnormality of the ovary, Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal cal... ORPHA:206484
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short femur, Short humerus OMIM:600121
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent otitis media, Recurrent skin infections, Pneumon... OMIM:613953
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent streptococcus pneu... ORPHA:70592
Heparin-Induced Thrombocytopenia
Pulmonary embolism, Increased inflammatory response, Myocardial infarction, Autoimmune thrombocyt... ORPHA:3325
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Aortic regurgitation, Patent ductus arteriosus, Abnormal left... OMIM:132900
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Descending aortic dissection, Coronary artery aneurysm, Ascending aort... OMIM:615436
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Delayed puberty, Primary amenorrhea OMIM:618117
Ovarian Dysgenesis 2
Primary amenorrhea, Delayed puberty, Gonadal hypoplasia, Abnormality of the uterus, Secondary ame... OMIM:300510
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Male pseudohermaphroditism, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90791
Idiopathic Achalasia
Cough, Recurrent aspiration pneumonia, Weight loss, Wheezing, Bronchitis ORPHA:930
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Tuberculosis
Abnormal lung morphology, Weight loss, Cough ORPHA:3389
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Eosinophilia, Atopic dermatitis, Pneumonia OMIM:617638
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Aortic regurgitation, Patent ductus arteriosus, Abnorma... ORPHA:229
Acheiropodia
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Testicular adrenal rest tumor, Hypertension, Decreased circulating renin level, Isosexual precoci... ORPHA:90795
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Abnormal eosinophil morphology, Cough, Bronchiectasis, Pulmonary arterial hype... ORPHA:1164
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Short metacarpal, Rhizomelia, Short humerus, Deformed humeral heads, Short metatar... OMIM:601438
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Increased antimullerian hormone level, ... ORPHA:99429
Immunodeficiency 48
Failure to thrive, Eczematoid dermatitis, Pneumonia, Splenomegaly OMIM:269840
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Dyspnea, Anemia, Abnormal bleeding, Weight loss ORPHA:517
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Hypoplasia of the va... OMIM:202010
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Myocardial i... ORPHA:60033
Immunodeficiency 35
Recurrent respiratory infections, Recurrent fungal infections, Recurrent viral infections, Recurr... OMIM:611521
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Tibial bowing, Flared metaphysis, Shor... ORPHA:93356
Hypersecretion Of Adrenal Androgens, Familial
Premature pubarche, Increased circulating androgen concentration, Adrenal overactivity OMIM:145295
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Rhizomelia, S... OMIM:619598
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Perineal hypospadias, Azoospermia, ... ORPHA:90797
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Recurrent upper respiratory tract infections, Pneumonia, Abnormally low T cell... OMIM:618806
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Eczema, Otitis media, Failure to thrive secondary to ... OMIM:608971
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... ORPHA:2019
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Immunodeficiency 31B
Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia, Recurrent respiratory infections, Recurrent otitis media, Failure to thrive OMIM:616022
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Premature Ovarian Failure 7
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612964
Polyembryoma
Increased serum testosterone level, Increased serum serotonin, Abnormal circulating gonadotropin ... ORPHA:180229
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... OMIM:273250
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Aorto-Ventricular Tunnel
Aortic root aneurysm, Congestive heart failure, Abnormal coronary artery morphology, Heart murmur... ORPHA:3400
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD4-positive helper T cells, Recurrent bronchitis, ... OMIM:312863
Camptomelic Syndrome, Long-Limb Type
Micromelia, Bowing of the long bones OMIM:211990
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Oligomenorrhea, Infertility OMIM:212840
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Aortic regurgitation, Aortic aneurysm, Atrial fibrillation, Left ventricular... OMIM:614980
Slc35A1-Cdg
Pneumonia, Hypoxemia, Giant platelets, Pulmonary hemorrhage, Thrombocytopenia, Abnormal platelet ... ORPHA:238459
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Upper airway obstruction, Respiratory distress, Aspiration pneumonia, Weight loss ORPHA:141152
Perrault Syndrome 6
Hypoplasia of the uterus, Irregular menstruation, Primary amenorrhea, Secondary amenorrhea, Prema... OMIM:617565
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Absence of puberta... OMIM:614840
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea ORPHA:397685
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Aortic aneurysm, Patent ductus arteriosus ORPHA:261102
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Conjunctivitis, Failure to thrive, Otitis media,... OMIM:601457
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... ORPHA:314478
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Enlargement of the proximal femoral epiphysis, Broad middle phalanx of finger, Metaph... OMIM:156500
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased serum te... OMIM:614841
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Abnormal vagina... ORPHA:168563
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Neutropenia, Recurrent respiratory infections, Fail... OMIM:613501
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Non-Functioning Pituitary Adenoma
Diabetes insipidus, Panhypopituitarism, Central adrenal insufficiency, Adrenocorticotropic hormon... ORPHA:91349
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased serum testosterone level, I... OMIM:610489
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Abnormality of the uterine cervix, Partial vaginal septum, Dysmenorrhea, Hydrocolpos, Uterus dide... ORPHA:3411
Acromesomelic Dysplasia 2A
Acromesomelia, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Short phalanx o... OMIM:200700
Congenital Bowing Of Long Bones
Bowing of the long bones ORPHA:2292
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial dysplasia, Hypoplasia of the radius, Distal ulnar hypoplasia, Meso... OMIM:191440
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Increased serum testosterone level, Oligospe... ORPHA:8
Functioning Gonadotropic Adenoma
Central diabetes insipidus, Delayed puberty, Panhypopituitarism, Increased serum testosterone lev... ORPHA:91348
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Estrogen Resistance
Hypoplasia of the uterus, Primary amenorrhea, Hyperinsulinemia OMIM:615363
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Reduced FEV1/FVC ratio, Hypoxemia, Pneumonia, Airway obstruction, Reduced fo... ORPHA:1303
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Abnormal bleeding, Thrombocytopenia OMIM:188020
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Bronchiectasis, Re... OMIM:618781
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Hypergonadotropic hypogonadism, Primary amenorrhea, Gonadal dysgenesis OMIM:607080
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Lymphopenia, Plasmacytosis OMIM:247800
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 32B
Sinusitis, Pneumonia, Splenomegaly, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Hyperprolactinemia
Menorrhagia, Infertility, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Infertility, Primary amenorrhea, Cryptorchidism, Micropenis, Decre... OMIM:146110
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea OMIM:300604
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Ascending aortic dissection, Atrial fibrillation, Thoracic aortic aneurysm OMIM:616166
Trimethylaminuria
Recurrent pneumonia, Splenomegaly, Neutropenia, Anemia, Hypertension, Tachycardia OMIM:602079
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Perrault Syndrome 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:614129
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Short femoral neck, Flared iliac wing, Flared humeral metaphysis, Rhizomelia, Flared ... OMIM:183849
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level, Amenorrhea OMIM:615724
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure OMIM:300886
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchi... OMIM:612444
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Upper Limb Mesomelic Dysplasia
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing ORPHA:2497
Leptin Deficiency Or Dysfunction
Recurrent pneumonia, Recurrent upper respiratory tract infections, Primary amenorrhea, Recurrent ... OMIM:614962
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Increa... ORPHA:90794
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Hypovolemia, Increased serum testosterone level, Ovarian cyst, Capillar... ORPHA:64739
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced vital capacity, Bronchi... OMIM:618695
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Br... OMIM:615294
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Pleural Mesothelioma
Abnormal respiratory system physiology, Abnormal cardiovascular system physiology, Pleural effusi... ORPHA:50251
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Perrault Syndrome 4
Primary amenorrhea, Decreased serum estradiol, Bicornuate uterus, Secondary amenorrhea, Premature... OMIM:615300
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Abnormal neut... ORPHA:723
Partington Syndrome
Facial telangiectasia, Macroorchidism ORPHA:94083
Plin1-Related Familial Partial Lipodystrophy
Infertility, Abnormal circulating hormone concentration, Polycystic ovaries, Hyperinsulinemia, In... ORPHA:280356
Familial Male-Limited Precocious Puberty
Oligospermia, Precocious puberty, Macroorchidism, Long penis ORPHA:3000
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Micropenis, Decreased ser... OMIM:618841
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic pulmonary obstruction, Chr... OMIM:253240
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Recurrent p... OMIM:615451
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Adrenocortical carcinoma, Increased urinary ... ORPHA:1501
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Recurrent pneumonia, Chronic rhinitis, Cough, Bronchiectasis, Recurrent b... OMIM:616726
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Recurrent pneumonia, Pneumonia, Splenomegaly, Recurrent bronchitis, Bronc... OMIM:607594
Marfanoid Hypermobility Syndrome
Mitral regurgitation, Aortic aneurysm, Aortic regurgitation OMIM:154750
Multicentric Reticulohistiocytosis
Histiocytosis, Arthritis, Cachexia ORPHA:139436
Rin2 Syndrome
Aortic aneurysm, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cryptorchidism ORPHA:217335
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta OMIM:614823
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Tibial bowing, Femoral bowing OMIM:166740
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... ORPHA:52901
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Premature Ovarian Failure 13
Oligomenorrhea OMIM:617442
Premature Ovarian Failure 15
Oligomenorrhea OMIM:618096
Carcinoma Of Esophagus
Obesity, Weight loss, Cough ORPHA:70482
Isolated Agammaglobulinemia
Sinusitis, Abnormal lymphocyte morphology, Pneumonia, Inflammatory abnormality of the eye, Thromb... ORPHA:229717
Immunodeficiency 50
Eczema, Recurrent respiratory infections, Neutropenia, Lymphopenia OMIM:300988
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615504
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Primary amenorrhea, Hyperinsulinemia, Coronary artery... ORPHA:785
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Reduced forced expiratory volume in one second, Redu... OMIM:619436
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Primary adrenal insufficiency, Elevated circulating l... ORPHA:90793
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Decreased nasal nitric oxide, Cough, Rhinorrhea, Bronchiectasis, Chronic ... OMIM:618254
Cryptogenic Organizing Pneumonia
Nonproductive cough, Restrictive ventilatory defect, Leukocytosis, Hypoxemia, Bronchial breath so... ORPHA:1302
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Aplasia of the tarsal bones, Absent metatars... OMIM:200500
Mccune-Albright Syndrome
Abnormal endocrine physiology, Goiter, Increased serum testosterone level, Abnormality of the thy... ORPHA:562
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus, Increased serum t... ORPHA:247768
Mounier-Kühn Syndrome
Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections, Bronchitis ORPHA:3347
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level, Clitoral hy... ORPHA:96181
Reticular Dysgenesis
Leukopenia, Abnormality of neutrophils, Recurrent respiratory infections, Failure to thrive, Anem... ORPHA:33355
46,Xy Sex Reversal 1
Primary amenorrhea, Elevated circulating luteinizing hormone level, Abnormality of female externa... OMIM:400044
Immunodeficiency 27A
Pneumonia, Hepatosplenomegaly, Histiocytosis, Leukocytosis, Thrombocytosis, Increased inflammator... OMIM:209950
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Decreased serum testosterone concentration, Absence of secondary sex characterist... ORPHA:163976
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Fa... ORPHA:264675
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Periventricular Nodular Heterotopia
Aortic aneurysm, Aortic regurgitation, Patent ductus arteriosus ORPHA:98892
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Immunodeficiency 13
Recurrent otitis media, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronch... OMIM:615518
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Pulmonary insufficiency, Honeycomb lung, Crackles, Cough, Br... ORPHA:2032
Fibromuscular Dysplasia, Arterial
Myocardial infarction, Aortic dissection, Renovascular hypertension, Intermittent claudication, A... OMIM:135580
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Decreased nasal nitric oxide, Bronchiectasis, Ciliary dyskinesia, Recurre... OMIM:608644
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Abnormal circle of Willis morphology, Aortic dissection, Intracranial hemor... ORPHA:231160
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary pneumatocele, Pneumonia, Hypoxemia, Leukopenia, Leukocytosis, Tach... ORPHA:36238
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Hypovolemia, Mucoid extracellular matrix accumulation, Abdominal aortic aneurysm, Aortic regurgit... ORPHA:91387
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Metaphyseal cuppin... OMIM:602111
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Elevated jugular venous pressure, Abnormally loud pulmonic component of the second heart sound, P... OMIM:265450
Takayasu Arteritis
Ascending tubular aorta aneurysm, Hypertrophic cardiomyopathy, Myocardial infarction, Hypertensiv... ORPHA:3287
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hypogonadotropic hypogonadism, Infertility, Arrhythmia, Congestive heart ... OMIM:602390
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection OMIM:604308
Cholesterol Pneumonia
Tachypnea, Pneumonia, Cough OMIM:215030
Cortisone Reductase Deficiency 1
Infertility, Precocious puberty, Oligomenorrhea OMIM:604931
Multisystemic Smooth Muscle Dysfunction Syndrome
Thoracic aortic aneurysm, Patent ductus arteriosus, Cryptorchidism, Pulmonary arterial hypertensi... OMIM:613834
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased testicular size, Hypergon... ORPHA:179494
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Thrombocytopenia, Epistaxis, Splenomegaly ORPHA:721
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Re... ORPHA:3226
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Recurrent respiratory infections OMIM:615214
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia OMIM:609528
Immunodeficiency 62
Autoimmune thrombocytopenia, Bronchiectasis OMIM:618459
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Bronchiectasis, Inflammation of the large intestine, Recurrent respiratory inf... OMIM:618108
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Restrictive ventilatory defect, Reduced FEV1/FVC ratio, Recurrent pneumon... OMIM:611884
Testicular Agenesis
Absent testis, Micropenis, Decreased serum testosterone concentration, Increased circulating gona... ORPHA:325124
Inflammatory Bowel Disease 11
Hematochezia, Weight loss, Inflammation of the large intestine OMIM:191390
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Reduced ejection fraction, Arrhythmia, Congestive heart fa... ORPHA:217607
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... OMIM:615872
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Bruising susceptibility, Neutrophil inclusion bodies, Leukocyte inclusion bodies, Menorrhagia, Gi... OMIM:155100
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Aortic regurgitation, Systolic heart murmur, Congestive heart fai... ORPHA:3092
Spondylometaphyseal Dysplasia, Algerian Type
Carpal bone hypoplasia, Hypoplasia of proximal radius, Short long bone, Short greater sciatic not... OMIM:184253
Asherman Syndrome
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... ORPHA:137686
Rigid Spine Syndrome
Respiratory insufficiency, Cardiac conduction abnormality, Abnormality on pulmonary function test... ORPHA:97244
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615505
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Leukocytosis, ... ORPHA:2902
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... ORPHA:251623
Lymphoid Interstitial Pneumonia
Restrictive ventilatory defect, Hypoxemia, Crackles, Subpleural interstitial thickening, Respirat... ORPHA:79128
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619146
Felty Syndrome
Sinusitis, Recurrent pneumonia, Abnormal lymphocyte morphology, Weight loss, Splenomegaly, Thromb... ORPHA:47612
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Pneumonia, Hypoxemia, Tachypnea, Hypotension, Respiratory failure, Respiratory tr... ORPHA:70587
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Neonatal re... OMIM:616481
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism, Azoospermia, Non-obstruct... ORPHA:432
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Increased pineal volume, Increased serum testosterone leve... ORPHA:769
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Macroorchidism, Elevated circulating growth hormone... ORPHA:85327
Thrombocytopenia 5
Bruising susceptibility, Petechiae, Neutropenia, Anemia, Thrombocytopenia, Epistaxis OMIM:616216
Premature Ovarian Failure 5
Primary amenorrhea, Secondary amenorrhea, Reduced antral follicle count, Premature ovarian insuff... OMIM:611548
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Deviation of finger, Short metacarpal, Rhizomelia, Short humerus, Deformed humeral... ORPHA:2831
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Increased DLC... ORPHA:90060
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Pneumonia, Asthma, Recurrent respiratory infections, Recurrent sinusitis, Atop... ORPHA:217390
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Neonatal respirator... OMIM:300991
Loeffler Endocarditis
Eosinophilia, Left ventricular diastolic dysfunction, Aortic regurgitation, Arrhythmia, Congestiv... ORPHA:75566
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Amenorrhea, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tub... OMIM:158330
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced ejection fraction OMIM:618189
Ciliary Dyskinesia, Primary, 20
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Recurrent p... OMIM:615067
Caspase 8 Deficiency
Pneumonia, Asthma, Decreased CD4:CD8 ratio, Splenomegaly, Eczema, Failure to thrive, Recurrent si... OMIM:607271
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Delayed puber... ORPHA:95619
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Pneumonia, Bronchiolitis, Periodontitis... OMIM:266265
Severe Combined Immunodeficiency, X-Linked
Recurrent pneumonia, T lymphocytopenia, Pneumonia, Impaired lymphocyte transformation with phytoh... OMIM:300400
Acute Promyelocytic Leukemia
Pancytopenia, Bruising susceptibility, Petechiae, Leukopenia, Diffuse alveolar hemorrhage, Ecchym... ORPHA:520
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis OMIM:618449
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Chronic bronchitis, Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasi... OMIM:612649
Arms, Malformation Of
Radioulnar synostosis, Hypoplasia of the ulna, Hypoplasia of the radius OMIM:107900
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Recurrent otitis media, Recurrent pneumonia, Lymphadenitis, Leukopenia, Chronic bro... OMIM:618986
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Decreased serum testosterone concentration, Increased circulating gonadotropin le... OMIM:300869
46,Xx Gonadal Dysgenesis
Primary amenorrhea, Aplasia/hypoplasia of the uterus, Decreased serum estradiol, Secondary amenor... ORPHA:243
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic aneurysm, Mucoid extracellular matrix accumulation, Aortic dissection OMIM:130090
Ciliary Dyskinesia, Primary, 16
Pulmonary insufficiency, Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Chronic otitis med... OMIM:614017
Interstitial Lung Disease 1
Restrictive ventilatory defect, Elevated bronchoalveolar lavage fluid neutrophil proportion, Nons... OMIM:619611
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Cone-shaped metacarpal epiphyses, Coxa valga, Short palm, Cone-shaped ... OMIM:250215
Satoyoshi Syndrome
Amenorrhea, Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidus, ... ORPHA:3130
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phospholipid ac... OMIM:610910
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Purpura, Vitreous hemorrhage OMIM:612304
Pulmonary Arteriovenous Malformation
Epistaxis, Hypoxemia, Bacterial endocarditis, Pulmonary hemorrhage, Myocardial infarction, Cough,... ORPHA:2038
Fragile X Syndrome
Ascending tubular aorta aneurysm, Macroorchidism ORPHA:908
Aspergillosis
Hepatitis, Keratitis, Intracranial hemorrhage, Hypersensitivity pneumonitis, Infectious encephali... ORPHA:1163
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Fibular aplasia, Split ... OMIM:113310
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic otitis media, Abnormal muc... OMIM:619466
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism, Purpura OMIM:612336
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Tibial bowing,... OMIM:600785
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Decreased serum testosterone concentration, Absence of secondary sex characterist... ORPHA:163971
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly OMIM:246570
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Primary amenorrhea, Gonadal dysgenesis, ... OMIM:233420
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Cough,... OMIM:178500
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration... OMIM:229070
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Cough, Pleural effusion, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadism, Decreased testicular size OMIM:616030
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory failure, Pulmonary arterial hypertension, Failure to thrive, Hypertension, Respirator... OMIM:605711
49,Xxxyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Micropenis, Decreased serum testos... ORPHA:261534
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Dilated left subclavian artery, Aortic... ORPHA:449400
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia, Hypertension, Primary amenorrhea OMIM:191830
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Premature ovarian insufficiency, Goiter OMIM:617175
Sebastian syndrome
Leukocyte inclusion bodies, Giant platelets, Thrombocytopenia, Neutrophil inclusion bodies, Prolo... OMIM:605249
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Productive cough, Exertional dyspnea, Upper airway o... ORPHA:3348
Immunodeficiency 75
Recurrent respiratory infections, Hepatosplenomegaly, Decreased proportion of class-switched memo... OMIM:619126
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating spl... OMIM:619220
Weismann-Netter Syndrome
Anterior tibial bowing, Squared iliac bones, Fibular bowing, Lateral femoral bowing OMIM:112350
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, Bronchiectasis, Recu... OMIM:616576
Refractory Anemia
Normocytic anemia, Thrombocytopenia, Dyspnea, Neutropenia, Abnormal cardiac ventricular function,... ORPHA:98826
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Recurrent pneumonia, Recurrent otitis media, Asthma, Decreased proportion of CD4-po... OMIM:243700
Common Variable Immunodeficiency
Emphysema, Restrictive ventilatory defect, Pneumonia, Failure to thrive in infancy, Autoimmune th... ORPHA:1572
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Congestive heart failure ORPHA:3077
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Recurrent pneumonia, Pneumonia, Decreased proportion of CD3-positive T cells, Hepat... ORPHA:169160
Immunodeficiency 14B, Autosomal Recessive
Recurrent pneumonia, Leukocytosis, Monocytosis, Thrombocytosis, Colitis, Neutrophilia, Inflammati... OMIM:619281
Diethylstilbestrol Syndrome
Decreased fertility in females, Epididymal cyst, Micropenis, Cryptorchidism, Abnormality of the u... ORPHA:1916
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Hepatosplenomegaly, Bronchiectasis, Failure to thrive, Eczematoid... OMIM:242700
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia, Failure to thrive, Recurrent sinopulmonary in... OMIM:616740
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Recurrent skin infections, Bronchiectasis, Eczema, Recurren... OMIM:618282
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615500
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Decreas... OMIM:618723
Tularemia
Pneumonia, Erythema nodosum, Brain abscess, Inflammatory abnormality of the eye, Cutaneous absces... ORPHA:3392
Systemic Capillary Leak Syndrome
Leukocytosis, Arrhythmia, Myocarditis, Hypotension, Pancreatitis, Cough, Rhinorrhea, Pleural effu... ORPHA:188
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Increased serum insulin-like growth factor 1, Pituitary prolactin cell ad... OMIM:102200
Insulin-Resistance Syndrome Type B
Diabetic ketoacidosis, Abnormal salivary gland morphology, Polycystic ovaries, Hyperinsulinemia, ... ORPHA:2298
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus, Amenorrhea OMIM:277000
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Lytic defects of humeral di... OMIM:601376
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Polycythemia Vera
Bruising susceptibility, Portal hypertension, Gastrointestinal hemorrhage, Pulmonary embolism, Gi... ORPHA:729
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Recurrent otitis media, Uveitis, Chronic neutropenia, Autoimmune hemolytic anemia, ... OMIM:614700
Lipodystrophy, Familial Partial, Type 3
Primary amenorrhea, Polycystic ovaries, Prominent superficial veins, Hyperinsulinemia, Insulin-re... OMIM:604367
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Abdominal aortic aneurysm, Aortic root aneurysm, Coronary artery atheroscle... OMIM:617168
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation, Reduced circulating prolactin concentration OMIM:264110
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Cardiac arrest, Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Cou... ORPHA:139402
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Chronic bronchitis OMIM:614069
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Bronchiectasis, Recurrent respiratory infections, Recurrent sino... OMIM:615513
Vaginal Atresia
Vaginal hematocele, Primary amenorrhea, Uterus didelphys, Vaginal atresia, Transverse vaginal sep... ORPHA:65681
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure, Small for gestational age OMIM:619057
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Uveitis, Hypoxemia, Erythema nodosum, Elevated broncho... OMIM:612387
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Failure to thrive, Thrombocytopenia, Extramedullar... OMIM:615285
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Abnorm... ORPHA:251510
Phace Association
Patent ductus arteriosus, Coarctation of aorta, Congenital hypothyroidism, Aortic aneurysm, Anoma... OMIM:606519
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal pulse pressure, Reduced ejection fraction, Abnormal left ventricular fu... ORPHA:3093
Microlissencephaly
Pneumonia ORPHA:1083
Adult Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Respiratory failure, Hypotension, Dyspnea, Abnormal blood gas level, Vascul... ORPHA:70578
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Weight loss, Arthritis, Thrombocytopenia, Neutropenia, Osteomyeli... ORPHA:47
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Bruising susceptibility, Splenomegaly, Thrombocytopenia, Dyspnea, Neutropenia,... ORPHA:231401
Acute Lung Injury
Acute pancreatitis, Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Tachypnea, Respiratory fai... ORPHA:178320
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Bilateral talipes equinovarus, Absent thumb, Hypoplastic scapulae, Hypoplastic pelvis, Short clav... OMIM:618022
Androgen Insensitivity Syndrome
Primary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:300068
Omodysplasia 2
Dislocated radial head, Rhizomelic arm shortening, Short humerus, Short 1st metacarpal, Hypoplast... OMIM:164745
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased testicular size OMIM:614880
Frasier Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Decreased serum estradiol, G... ORPHA:347
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Recurrent p... OMIM:608647
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Recurre... OMIM:150550
Hodgkin Lymphoma
Splenomegaly, Weight loss, Cough, Dyspnea ORPHA:98293
Ciliary Dyskinesia, Primary, 25
Immotile cilia, Sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent res... OMIM:615482
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Short metacarpal, Rhizomelia,... OMIM:608940
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Congestive heart failure, Pulmonary embolism, Hypertrophic cardiomyopathy, Osteoarthr... ORPHA:1345
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Bundle branch block, Increased pulmonary vascular resistance, Atrial fibrill... ORPHA:99103
Temtamy Syndrome
Aortic aneurysm ORPHA:1777
Omenn Syndrome
Eosinophilia, Pneumonia, Splenomegaly, Severe B lymphocytopenia, Erythroderma, Failure to thrive,... OMIM:603554
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Amenorrhea, Neutropenia, Anemia, Impotence, Cardiomyopathy, Lympho... OMIM:604250
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic rhinitis, Dyspnea, Atelectasis, Bronchiecta... ORPHA:922
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Failure to thrive, Respiratory distress OMIM:245590
Premature Ovarian Failure 11
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomenorrhea OMIM:616946
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Pulmonary embolism, Purpura OMIM:614514
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Flat capital femoral epiphysis, Wide capital femoral epiphyses, Patellar hypoplasia, Sandal gap, ... OMIM:147891
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Joint hemorrhage, Hemothorax OMIM:262850
Eosinophilic Gastroenteritis
Hematochezia, Eosinophilia, Leukocytosis, Asthma, Anemia, Allergic rhinitis, Atopic dermatitis, W... ORPHA:2070
Granulomatosis With Polyangiitis
Sinusitis, Elevated bronchoalveolar lavage fluid neutrophil proportion, Uveitis, Diffuse alveolar... OMIM:608710
Ciliary Dyskinesia, Primary, 24
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent sinusitis, Rhinitis OMIM:615481
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Mesomelia, Tarsal synostosis OMIM:156232
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Chronic bronchitis, Cough, Rhinorrhea, Ciliary dyskinesia, Bronchiectasis, R... OMIM:613807
Bronchial Neuroendocrine Tumor
Nonproductive cough, Pneumonia, Asthma, Cardiogenic shock, Hypotension, Dyspnea, Wheezing, Bronch... ORPHA:97287
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Recurrent skin infections, Pneumonia, Monocytosis, Leukemia, Periodontitis, Acute m... ORPHA:486
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Primary amenorrhea, Male pseudohermaphroditism, Hypertension, Ambiguous g... OMIM:202110
Laryngeal Neuroendocrine Tumor
Exertional dyspnea, Weight loss ORPHA:100083
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Abnormal umbilical stump bleeding, Gin... ORPHA:79
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Pneumonia, Lymphadenitis, Hepatosplenomegaly, Colitis, Autoimmune hemolytic anemia,... ORPHA:911
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormality of female external genitalia, Decreased circulating cortisol level, Male pseudohermap... ORPHA:90790
Eosinophilic Fasciitis