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 3.81×10-11
abnormal femur morphology Timp1tm1b(EUCOMM)Hmgu HEM Early adult 2.66×10-09

Download data as:  TSV  XLS

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Select physiological systems to view:
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 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Echo

M-Mode Images

28 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

3 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 humerus, Metaphyseal chondromatosis of femur 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
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Metaphyseal Anadysplasia 2
Metaphyseal widening, Short femoral neck, Bowing of the legs, Metaphyseal irregularity OMIM:613073
Genu Valgum, St. Helena Familial
Genu valgum OMIM:137370
Pulmonary Blastoma
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Weight loss, Hemoptysis, Pulmonary... ORPHA:64741
Prenatal Bowing
Bowing of the long bones OMIM:264050
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Hydatidiform Mole
Menometrorrhagia, Anemia, Enlarged uterus, Spontaneous abortion, Hyperthyroidism ORPHA:99927
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Rhizomelia, Short femur, Short humerus OMIM:600121
Immunodeficiency 51
Folliculitis, Recurrent bronchitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Aortic regurgitation, Abnormal left ventricular function, Patent duc... OMIM:132900
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, Recurrent bac... ORPHA:70592
Heparin-Induced Thrombocytopenia
Autoimmune thrombocytopenia, Increased inflammatory response, Myocardial infarction, Pulmonary em... ORPHA:3325
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Weight loss, Asthma, Hemoptysis, Pul... ORPHA:1164
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Female external genita... ORPHA:90791
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Aortic regurgitation, Abnormal lef... ORPHA:229
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia, Eosinophilia, Asthma OMIM:617638
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Idiopathic Achalasia
Wheezing, Cough, Weight loss, Bronchitis, Recurrent aspiration pneumonia ORPHA:930
Tuberculosis
Cough, Abnormal lung morphology, Weight loss ORPHA:3389
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Increased urinary 11-deoxycorticosterone level, Decreased circulating re... ORPHA:90795
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Rhizomelic Dysplasia, Patterson-Lowry Type
Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Short metacarpal,... OMIM:601438
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,... ORPHA:99429
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Failure to thrive, Splenomegaly OMIM:269840
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Decreased pulmonary fu... ORPHA:60033
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Acute Myelomonocytic Leukemia
Abnormal bleeding, Dyspnea, Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche OMIM:145295
Immunodeficiency 35
Recurrent viral infections, Recurrent respiratory infections, Recurrent mycobacterial infections,... OMIM:611521
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Blind vagina, Aplasia of the... ORPHA:90797
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Neutropenia, Pneumonia, Sinusitis, C... OMIM:601495
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent pneumonia OMIM:613500
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Abnormal aortic morphology, Aorto-ventricular tunnel, Heart ... ORPHA:3400
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally lo... OMIM:618806
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Pneumonia, Splenomegaly, ... OMIM:608971
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Short humerus, Aplasia/Hypoplasia of the ... ORPHA:2019
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... OMIM:612964
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Failure to thrive OMIM:616022
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-p... OMIM:312863
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Invasive Mole
Menometrorrhagia ORPHA:99925
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea OMIM:212840
Polyembryoma
Abnormality of the endocrine system, Macroorchidism, Increased serum serotonin, Isosexual precoci... ORPHA:180229
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Irregular menstruation, Decreased antimullerian h... OMIM:619203
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Abnormal proporti... ORPHA:133
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia ORPHA:397685
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Primary amenorrhea, Absence of pubertal development, Hypogonadotrop... OMIM:614840
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Left ventricular outflow tract obstruction, Aortic val... OMIM:614980
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Slc35A1-Cdg
Pulmonary hemorrhage, Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Neutropen... ORPHA:238459
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Purulent rhinitis, Pneumo... OMIM:601457
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormality of the endometrium, Gonadal calcification, Abnormal circula... ORPHA:314478
Mental Retardation, X-Linked 14
Macroorchidism OMIM:300062
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Primary amenorrhea, Decreased circulating gonadotropin ... OMIM:614841
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91349
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Failure to thrive, Recurrent respirato... OMIM:613501
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... ORPHA:168563
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Vascular dilatation, Impaired myocardial contractility, Congestive heart ... OMIM:600884
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Congenital Bowing Of Long Bones
Bowing of the long bones ORPHA:2292
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Estrogen Resistance
Hypoplasia of the uterus, Hyperinsulinemia, Primary amenorrhea OMIM:615363
Functioning Gonadotropic Adenoma
Panhypopituitarism, Ovarian cyst, Increased circulating gonadotropin level, Anterior hypopituitar... ORPHA:91348
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Hydrocolpos, Dyspareunia, Metrorrhagia, Abnormality of the uterine cervix... ORPHA:3411
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Hypergonadotropic hypogonadism, Gonadal dysgenesis, Primary amenorrhea OMIM:607080
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis OMIM:247800
Hyperprolactinemia
Infertility, Menorrhagia, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea OMIM:611548
Pneumocystosis
Dyspnea, Chronic oral candidiasis, Interstitial pneumonitis, Exertional dyspnea, Parenchymal cons... ORPHA:723
Mounier-Kühn Syndrome
Pneumonia, Recurrent bronchopulmonary infections, Tracheal stenosis, Bronchitis, Tracheobronchmeg... ORPHA:3347
Thrombocytopenia, Cyclic
Thrombocytopenia, Abnormal bleeding, Neutropenia, Cyclic neutropenia OMIM:188020
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea OMIM:300604
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicu... OMIM:146110
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress, Reduced forced expiratory vol... OMIM:618781
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Atrial fibrillation, Ascending aortic dissection, Aortic tortuosity OMIM:616166
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Atrial flutter, Congestive heart failure, Macroorchidism OMIM:300886
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Flared iliac wing, Rhizomelia, Flared femoral metaphys... OMIM:183849
Immunodeficiency 32B
Bronchiectasis, Pneumonia, Splenomegaly, Sinusitis, Recurrent respiratory infections OMIM:226990
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Trimethylaminuria
Recurrent pneumonia, Neutropenia, Hypertension, Tachycardia, Anemia, Splenomegaly OMIM:602079
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent upper respiratory tract infections, Primary amenorrhea, Recurre... OMIM:614962
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Upper Limb Mesomelic Dysplasia
Radial bowing, Hypoplasia of the ulna, Ulnar deviation of finger ORPHA:2497
Ulnar Hypoplasia
Radial bowing, Distal ulnar hypoplasia, Hypoplasia of the radius, Mesomelic arm shortening, Radia... OMIM:191440
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Increased circulating gonadotropin level, Hypovolemia, Enlarged polycystic ovaries,... ORPHA:64739
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Cough, Pneumonia... OMIM:612444
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Hypertension, Polycystic ovaries, Abnormal circula... ORPHA:280356
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Atelectasis, Neona... OMIM:615294
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Intermittent claudication, Renovascular hypertension, Myocardia... OMIM:135580
Perrault Syndrome 4
Increased circulating gonadotropin level, Oligomenorrhea, Hypoplasia of the uterus, Primary ameno... OMIM:615300
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Partington Syndrome
Facial telangiectasia, Macroorchidism ORPHA:94083
Familial Male-Limited Precocious Puberty
Precocious puberty, Macroorchidism, Long penis, Oligospermia ORPHA:3000
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Productive cough... OMIM:615451
Staphylococcal Necrotizing Pneumonia
Cough, Pneumonia, Leukopenia, Shock, Neutrophilia, Respiratory distress, Pleural empyema, Pulmona... ORPHA:36238
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Cough, Atelecta... OMIM:616726
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testoster... OMIM:618841
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Esophagitis, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Re... ORPHA:3348
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta OMIM:614823
Mass Syndrome
Aortic aneurysm OMIM:604308
Mental Retardation, X-Linked 2
Macroorchidism OMIM:300428
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Abnormal sputum, Wheezing, Restrictive ventilatory defect, Respirator... ORPHA:1302
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia, Arthritis ORPHA:139436
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Palpitations, Paradoxical increased co... ORPHA:1501
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Premature Ovarian Failure 13
Oligomenorrhea OMIM:617442
Premature Ovarian Failure 15
Oligomenorrhea OMIM:618096
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... OMIM:615504
Immunodeficiency 13
T lymphocytopenia, Bronchiectasis, Recurrent upper respiratory tract infections, Lymphopenia, Dec... OMIM:615518
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Exertional dyspn... ORPHA:2032
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia, Wide nasal bridge, Depressed nasal bridge OMIM:609528
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Breast hypoplasia, Absence of seconda... ORPHA:785
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Neutropenia, Recurrent pneumonia, Recurrent respirator... OMIM:613502
Rin2 Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Aortic aneurysm, Premature ovarian insufficiency ORPHA:217335
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Abnormally loud pulmonic component of the second heart sound, Pul... OMIM:265450
Immunodeficiency 27A
Thrombocytosis, Pulmonary infiltrates, Increased inflammatory response, Leukocytosis, Salmonella ... OMIM:209950
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Recurrent bacterial infections OMIM:608957
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testoster... ORPHA:96181
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Immunodeficiency 50
Eczema, Lymphopenia, Recurrent respiratory infections, Neutropenia OMIM:300988
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Isolated Agammaglobulinemia
Skin rash, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Recurrent respi... ORPHA:229717
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Carcinoma Of Esophagus
Cough, Weight loss, Obesity ORPHA:70482
Acheiropody
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Aplas... OMIM:200500
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... ORPHA:231160
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
46,Xy Sex Reversal 1
Abnormality of the menstrual cycle, Ambiguous genitalia, Elevated circulating luteinizing hormone... OMIM:400044
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin... ORPHA:562
Aspergillosis
Pleuritis, Bronchiectasis, Intracranial hemorrhage, Cough, Neutropenia, Pneumonia, Abnormal trach... ORPHA:1163
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent otitis media, Neutropenia, Thrombocytopenia, Anemi... OMIM:617475
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Increased serum t... ORPHA:247768
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Recurrent otitis media, Cough, Rhinorrhea, Chronic lung disease, Recurrent lower ... OMIM:618254
Marfanoid Hypermobility Syndrome
Mitral regurgitation, Aortic aneurysm, Aortic regurgitation OMIM:154750
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Aortic aneurysm, Aortic regurgitation ORPHA:98892
Young Syndrome
Recurrent bronchitis, Congenital cystic adenomatoid malformation of the lung, Bronchiectasis, Rec... OMIM:279000
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Retractile testis, H... ORPHA:163976
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, Anteverted nares, Chronic bronchitis, Depressed nasal bridge OMIM:614069
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Multisystemic Smooth Muscle Dysfunction Syndrome
Cryptorchidism, Abnormal aortic morphology, Patent ductus arteriosus, Hypertension, Vascular dila... OMIM:613834
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, H... ORPHA:66628
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Recurrent ... OMIM:608647
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Ischemic stroke, Aortic regurgitat... ORPHA:91387
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibial bowing, Coxa vara, Flar... OMIM:602111
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Chronic otitis media, Weight loss, Anemia, Leukopenia, Fai... ORPHA:33355
Hemochromatosis, Type 2A
Infertility, Arrhythmia, Azoospermia, Dilated cardiomyopathy, Amenorrhea, Congestive heart failur... OMIM:602390
Cortisone Reductase Deficiency 1
Infertility, Precocious puberty, Oligomenorrhea OMIM:604931
Mantle Cell Lymphoma
Weight loss, Splenomegaly ORPHA:52416
Cholesterol Pneumonia
Tachypnea, Cough, Pneumonia OMIM:215030
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Leukocyt... ORPHA:90060
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Epistaxis, Splenomegaly ORPHA:721
Premature Ovarian Failure 8
Increased circulating gonadotropin level, Ovarian neoplasm, Premature ovarian insufficiency, Prim... OMIM:615723
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Leukocytosis, Intracranial hemorrhage, Chronic otitis media, Bruising su... ORPHA:3226
Tularemia
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Respiratory distress, P... ORPHA:3392
Takayasu Arteritis
Hypertensive crisis, Hypertension, Vascular dilatation, Myocardial infarction, Cerebral ischemia,... ORPHA:3287
Ciliary Dyskinesia, Primary, 28
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... OMIM:615505
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, T lymphocytopenia, Skin rash, Bronchiectasis, Reduced natura... OMIM:618108
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Neutropenia OMIM:615214
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Cardiac conduction abnormality, Pneumonia, Respiratory... ORPHA:97244
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent outer dyn... OMIM:615067
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, H... ORPHA:179494
Congenital Disorder Of Glycosylation, Type Iic
Bulbous nose, Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutr... OMIM:266265
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Bronchiectasis, Pulmonary insufficiency, Ciliary dyskinesia, Absent ou... OMIM:614017
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
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Myocardial infarction, L... OMIM:155100
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Dyspnea, Elevated pu... ORPHA:217607
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss, Hematochezia OMIM:191390
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Impotence, Pituitary hypothyroidism,... ORPHA:251623
Immunodeficiency 62
Bronchiectasis, Autoimmune thrombocytopenia OMIM:618459
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, A... ORPHA:432
Ciliary Dyskinesia, Primary, 3
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Neonatal respira... OMIM:608644
Rabson-Mendenhall Syndrome
Long penis, Enlarged ovaries, Hypothyroidism, Increased circulating androgen concentration, Insul... ORPHA:769
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Atopic dermatitis, Recurrent bacterial skin infections, Chronic otitis media, ... ORPHA:217390
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis, Diverticulosis of trachea OMIM:275300
Lipodystrophy, Familial Partial, Type 4
Diabetes mellitus, Hypertension, Oligomenorrhea OMIM:613877
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Hypotension, Pneumonia, Atelectasis, Tachycardia, Cardiac arrest, Re... ORPHA:70587
Felty Syndrome
Recurrent pneumonia, Pleuritis, Pericarditis, Pulmonary fibrosis, Abnormal lymphocyte morphology,... ORPHA:47612
Post-Traumatic Pituitary Deficiency
Infertility, Panhypopituitarism, Decreased circulating ACTH level, Amenorrhea, Hypotension, Pitui... ORPHA:95619
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Telangiectasia, Hereditary Benign
Diffuse telangiectasia, Vascular dilatation OMIM:187260
Hyperostosis Frontalis Interna
Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Ciliary Dyskinesia, Primary, 32
Bronchiectasis, Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Spondylometaphyseal Dysplasia, Algerian Type
Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Flared femoral metaphysis, Short greater... OMIM:184253
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Bronchiectasis, Recurrent sinusitis, Pneumoni... OMIM:615207
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube, Aplasia of the uteru... OMIM:158330
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent res... OMIM:612649
Thrombocytopenia 5
Neutropenia, Epistaxis, Thrombocytopenia, Petechiae, Anemia, Bruising susceptibility OMIM:616216
Ciliary Dyskinesia, Primary, 36, X-Linked
Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress, Recurrent respiratory ... OMIM:300991
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Chronic pulmonary obstruction, Bronchiectasis, Pulmonary fibros... OMIM:618986
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration, Decreased serum insulin-like g... ORPHA:85327
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Deformed humeral heads, Rhizomelia, Short humerus, Coxa vara, Short metacarpal, Brac... ORPHA:2831
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic dissection, Mucoid extracellular matrix accumulation, Aortic aneurysm OMIM:130090
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent sinusitis, ... OMIM:616576
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Decreased DLCO, Pulmonary venous occlusion, ... OMIM:234810
Acute Promyelocytic Leukemia
Ecchymosis, Abnormal bleeding, Exertional dyspnea, Leukocytosis, Purpura, Oral cavity bleeding, N... ORPHA:520
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Reduced ejection fraction, Dilated cardiomyopathy OMIM:618189
Common Variable Immunodeficiency
Recurrent bronchitis, Restrictive ventilatory defect, Hemolytic anemia, Autoimmune thrombocytopen... ORPHA:1572
Marburg Hemorrhagic Fever
Skin rash, Abnormal bleeding, Gastrointestinal hemorrhage, Subconjunctival hemorrhage, Cough, Wei... ORPHA:99826
Arms, Malformation Of
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna OMIM:107900
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Short phalanx of finger, Micromelia, Short finger, Metaphyseal cupping, Shor... OMIM:250215
Seckel Syndrome 7
Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614851
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Decreased serum testosterone concentrat... OMIM:300869
Pulmonary Arteriovenous Malformation
Iron deficiency anemia, Pulmonary hemorrhage, Palpitations, Abnormal bleeding, Ischemic stroke, D... ORPHA:2038
Ciliary Dyskinesia, Primary, 26
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent outer dyn... OMIM:615500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Abnormal common carotid artery morphol... ORPHA:449400
Caspase 8 Deficiency
Pneumonia, Recurrent sinopulmonary infections, Decreased CD4:CD8 ratio, Asthma, Failure to thrive... OMIM:607271
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Impaired lymphocyte transformation with p... OMIM:300400
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Metaphyseal irregularity, Bowing of the long bones, Tibial bowing... OMIM:600785
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Autosomal Dominant Cutis Laxa
Pulmonic stenosis, Aortic aneurysm ORPHA:90348
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Recurrent sinusitis, Bronchiectasis OMIM:618449
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:616030
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus, Hypertension, Primary amenorrhea OMIM:191830
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism, Purpura OMIM:612304
Pulmonary Fibrosis, Idiopathic
Dyspnea, Exertional dyspnea, Alveolar cell carcinoma, Pulmonary fibrosis, Cough, Elevated broncho... OMIM:178500
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism, Purpura OMIM:612336
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Wheezing, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Abnormal... OMIM:613808
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Hypoxemia, Acute pancreatitis, Diffuse alveolar hemorrh... ORPHA:178320
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Hypergonadotropic hy... ORPHA:163971
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Bronchiectasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Ecz... OMIM:618282
Fragile X Syndrome
Ascending tubular aorta aneurysm, Macroorchidism ORPHA:908
Multiple Mitochondrial Dysfunctions Syndrome 1
Hypertension, Respiratory insufficiency, Respiratory failure, Failure to thrive, Pulmonary arteri... OMIM:605711
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidus, Amenorrhea, ... ORPHA:3130
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Granulomatosis With Polyangiitis
Pleuritis, Cough, Chronic otitis media, Uveitis, Elevated bronchoalveolar lavage fluid neutrophil... OMIM:608710
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Streak ovary, Primary amenorrhea, Aplasia/hypoplasia of... ORPHA:243
49,Xxxyy Syndrome
Ambiguous genitalia, Increased circulating gonadotropin level, Male hypogonadism, Abnormality of ... ORPHA:261534
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Hypertension, Polycystic ovaries, Primary am... OMIM:604367
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Skin rash, Pustule, Dyspnea, Interstitial pneumonitis, Thyroiditis, Cough, Erythro... ORPHA:139402
Weismann-Netter Syndrome
Squared iliac bones, Lateral femoral bowing, Anterior tibial bowing, Fibular bowing OMIM:112350
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Recurrent respiratory ... OMIM:619126
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Lymphopenia, Emphysema, Pyoderma, R... OMIM:242700
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Refractory Anemia
Erythroid hypoplasia, Abnormal bleeding, Dyspnea, Abnormal cardiac ventricular function, Neutrope... ORPHA:98826
Sebastian syndrome
Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets... OMIM:605249
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Wheezing, Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Abs... OMIM:613807
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Vascular dilatation, ... OMIM:609040
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, Erythroderma, Decr... ORPHA:169160
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus, Amenorrhea OMIM:277000
Adult Acute Respiratory Distress Syndrome
Dyspnea, Hypotension, Pneumonia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Sho... ORPHA:70578
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Pneumonia, Pancytopenia, Decreased proportion of class-switched memo... OMIM:614700
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... OMIM:601376
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Chronic rhinitis, Recurrent r... OMIM:618801
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta OMIM:241550
Aortic Aneurysm, Familial Thoracic 10
Coronary artery atherosclerosis, Aortic root aneurysm, Mitral regurgitation, Abdominal aortic ane... OMIM:617168
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure, Macroorchidism ORPHA:3077
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Pulmonary insufficiency, Abnormal heart rate variability, Atelect... ORPHA:70588
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency, Recurrent bronchitis, Bronchiectasis, Recurrent si... OMIM:617091
Hodgkin Lymphoma
Dyspnea, Cough, Weight loss, Splenomegaly, Hemoptysis ORPHA:98293
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurrent otitis media,... OMIM:619220
Laryngeal Neuroendocrine Tumor
Neoplasm of the larynx, Weight loss, Exertional dyspnea ORPHA:100083
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
Hemochromatosis, Type 3
Amenorrhea, Lymphopenia, Impotence, Neutropenia, Anemia, Hypogonadotropic hypogonadism, Cardiomyo... OMIM:604250
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure, Small for gestational age OMIM:619057
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Enlarged ovaries, Abnormality of circulating lep... ORPHA:2298
Polycythemia Vera
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Budd-Chiari syndrome, Ep... ORPHA:729
Systemic Capillary Leak Syndrome
Arrhythmia, Pericarditis, Cardiorespiratory arrest, Leukocytosis, Hypotension, Cough, Pleural eff... ORPHA:188
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Recurrent sinusit... OMIM:619281
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron... OMIM:150550
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia, Fa... OMIM:615285
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Periodontitis, Neutropenia, Pneumonia, Recurrent sinopulmonar... ORPHA:486
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Hypergonadotropic hypogonadi... ORPHA:347
Scedosporiosis
Pleuritis, Pericarditis, Endocarditis, Pulmonary fibrosis, Decreased pulmonary function, Cough, B... ORPHA:449280
Phace Association
Arterial stenosis, Patent ductus arteriosus, Vascular dilatation, Congenital hypothyroidism, Coar... OMIM:606519
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicular size, Dia... OMIM:610628
Ciliary Dyskinesia, Primary, 7
Restrictive ventilatory defect, Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Re... OMIM:611884
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Bronchiectasis, Increas... OMIM:615513
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Osteoarthritis, Hypertrop... ORPHA:1345
Bronchial Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Wheezing, Right ventricular failure, Bronchospasm, Dyspnea, Hypo... ORPHA:97287
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Dyspnea, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Spl... ORPHA:231401
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614880
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Neutropenia, Recurrent sinopulmonary inf... OMIM:616740
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Androgen Insensitivity Syndrome
Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrhea, Female external... OMIM:300068
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Cough, Nasal polyposis, Respiratory insufficiency, Weight loss, Sinusitis, Myocarditis... ORPHA:183
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Cough, Nasal polyposis, Chronic rhinitis, Chronic sinusitis, Recurrent respirator... OMIM:617092
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Omenn Syndrome
Severe B lymphocytopenia, Erythroderma, Pneumonia, Thrombocytopenia, Hypoplasia of the thymus, B ... OMIM:603554
Ciliary Dyskinesia, Primary, 25
Chronic pulmonary obstruction, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Immotile ... OMIM:615482
X-Linked Agammaglobulinemia
Skin rash, Recurrent pneumonia, Abnormal lung morphology, Chronic otitis media, Neutropenia, Weig... ORPHA:47
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Congenital Aortic Valve Stenosis
Reduced ejection fraction, Abnormal pulse pressure, Angina pectoris, Abnormal left ventricular fu... ORPHA:3093
Atrial Septal Defect, Ostium Secundum Type
Exertional dyspnea, Atrial flutter, Abnormal left ventricular function, Pneumonia, Tricuspid regu... ORPHA:99103
Omodysplasia 2
Dislocated radial head, Hypoplastic distal humeri, Short 1st metacarpal, Short humerus, Rhizomeli... OMIM:164745
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage, Purpura OMIM:614514
Ciliary Dyskinesia, Primary, 30
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Cough, Absent outer dynein arms, Nasa... OMIM:616037
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Temtamy Syndrome
Aortic aneurysm ORPHA:1777
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopen... ORPHA:911
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic pelvis, Hypoplastic scapulae, Bilateral talipes equinovarus, Absent thumb, Short clav... OMIM:618022
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Hypertension, Primary amenorrhea, Male pseudohermaphroditism, Adrenal hyperp... OMIM:202110
Ciliary Dyskinesia, Primary, 24
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis OMIM:615481
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Hemothorax, Joint hemorrhage, Bruising susceptibility OMIM:262850
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm OMIM:618496
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Sandal gap, Wide capital femoral epiphy... OMIM:147891
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Mesomelic Dysplasia, Kantaputra Type
Radial bowing, Tarsal synostosis, Mesomelia, Carpal synostosis OMIM:156232
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Fusariosis