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Gene: Adam17 MGI:1096335

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Gene Summary

Name:
a disintegrin and metallopeptidase domain 17
Synonyms:
Tace,  CD156b

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal vibrissa morphology Adam17tm1a(EUCOMM)Wtsi HET Early adult 8.88×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
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
Adrenal gland N/A heterozygote 50% (1 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 50% (1 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 50% (1 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Not available
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

7 Images

View images
Legacy Phenotype Associated Images
Adam17tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Adam17tm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Adam17tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Adam17tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Adam17tm1a(EUCOMM)Wtsi
head, HET, Male, WTSI

View all 61 images

Adam17tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Adam17tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Adam17tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Adam17 mutations

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

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

The table below shows human diseases associated to Adam17 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Onychogryposis, Pustule, Paronychia, Erythroderma, Duodenitis, Blepharitis OMIM:614328
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Horizontal eyebrow, Bloody diarrhea, Left ventricular hypert... ORPHA:294023

The table below shows human diseases predicted to be associated to Adam17 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Athrombia, Essential
Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation OMIM:209050
Myxoma, Intracardiac
Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma OMIM:255960
Ethanolaminosis
Cardiomegaly, Death in infancy OMIM:227150
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619130
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:187950
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:619267
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Keratoglobus, Red hair, Epicanthus, Mitral valve prolapse, Abnormal co... OMIM:229200
Platelet Signal Processing Defect
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... OMIM:173590
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Aplasia/Hypoplasia of the iris, Ptosis, Cataract, Hypopigmentation of hair, Abnormal he... ORPHA:1067
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Cardiofaciocutaneous Syndrome 4
Curly hair, Decreased response to growth hormone stimulation test, Epicanthus, Abnormal aortic va... OMIM:615280
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Trichorrhexis nodosa, Curly hair, Fine hair, Sparse eyelashes, Sparse hair OMIM:616760
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Desquamative interstitial pneumonitis, Respiratory distress, Recurrent upper respirator... OMIM:263000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Neonatal death, Pulmonary hypoplasia OMIM:615228
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Anterior Segment Dysgenesis 5
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... OMIM:604229
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Micro... OMIM:212550
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ... ORPHA:171673
Noonan Syndrome 9
Downslanted palpebral fissures, Sparse eyebrow, Curly hair, Ventricular septal defect, Prominent ... OMIM:616559
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Conjunctivitis, Enamel hypoplasia, Alopecia, Flexion contracture, Esophageal stricture, Corneal s... OMIM:226600
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair, Brittle hair OMIM:617252
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Microphthalmia, Isolated, With Coloboma 4
Coloboma, Microphthalmia, Orbital cyst, Microcornea OMIM:251505
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... OMIM:619773
Brittle Cornea Syndrome
Keratoglobus, Hernia, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Mitral... ORPHA:90354
Bronchopulmonary Dysplasia
Central apnea, Hyperoxemia, Pulmonary sequestration, Tracheobronchomalacia, Abnormal respiratory ... ORPHA:70589
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity, Hepatomegaly, Median cleft palate ORPHA:2432
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Recurrent respiratory infections, Death in childhood, Respiratory failure OMIM:253300
Erythrocytosis, Familial, 5
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617907
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Knee flexion contracture, Recurrent bacterial skin infections, Sparse eyebrow, Corneal scarring, ... OMIM:148210
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Corneal scarring, Keratoconjunctivitis sicca, Subepithelial corneal opacit... ORPHA:293381
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse body hair, Sparse eyebrow, Curly hair, Pili torti, Brittle hair, Corneal opacity, Curly ey... OMIM:602400
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Optic pit, Anophthalmia, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:616428
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Optic atrophy, Ptosis, Cataract, Iris coloboma, Microphthalmia, Corneal op... ORPHA:1473
Lattice Corneal Dystrophy Type I
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... ORPHA:98964
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Nodular pattern on pulmonary HRCT, Cough ORPHA:60026
Dermatitis, Atopic
Conjunctivitis, Allergic rhinitis, Eczema, Cataract, Recurrent skin infections, Pruritus, Keratoc... OMIM:603165
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function ORPHA:231393
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Par... OMIM:610921
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress, Death in infancy OMIM:254120
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Cyanosis, Intraalveolar phospholipid accumulation, Desquamative ... OMIM:265120
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract, Hepatomegaly ORPHA:79281
Erythrocytosis, Familial, 4
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:611783
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Tracheomalacia, Neonatal death, Pulmonary hypoplasia OMIM:245650
Asbestos Intoxication
Cyanosis, Abnormal pulmonary interstitial morphology, Respiratory failure, Exertional dyspnea, La... ORPHA:2302
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Epicanthus, Microcornea, Cataract, Microphthalmia, Upslanted palpebral fissure ORPHA:2528
Peroxisome Biogenesis Disorder 10A (Zellweger)
Downslanted palpebral fissures, High palate, Epicanthus, Cataract, Hepatomegaly OMIM:614882
Distal Monosomy 6P
Downslanted palpebral fissures, Posterior embryotoxon, Epicanthus, Hypoplasia of the iris, Anteri... ORPHA:96125
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Posterior Polymorphous Corneal Dystrophy
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... ORPHA:98973
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Anterior synechiae of the anterior chamber, Microcornea, Hypopigmentation ... ORPHA:3214
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Uncombable Hair Syndrome 2
Pili canaliculi, Juvenile cataract, Uncombable hair OMIM:617251
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:273800
Galactosialidosis
Corneal opacity, Cherry red spot of the macula ORPHA:351
Mucolipidosis Type Iii
Abnormal aortic valve morphology, Inguinal hernia, Corneal opacity, Cleft palate, Abnormal heart ... ORPHA:577
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Pulmonary Blastoma
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Cough ORPHA:64741
Pleural Mesothelioma
Abnormal pleura morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural... ORPHA:50251
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Corneal opacity, Microphthalmia, Decreased corneal thickness, Flat cornea, Scleroc... OMIM:217300
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... ORPHA:69736
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Osteomyelitis, Corneal scarring, Nail dysplasia, Keratitis, Opacification of t... OMIM:256800
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... OMIM:613270
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... OMIM:193230
Idiopathic Achalasia
Gastroesophageal reflux, Decreased prealbumin level, Weight loss, Recurrent aspiration pneumonia,... ORPHA:930
Primary Pulmonary Hypoplasia
Cyanosis, Pneumothorax, Abnormal breath sound, Epicanthus, Asthma, Hypoxemia, Pulmonary hypoplasi... ORPHA:2257
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Bloody diarrhea, Ulcerative colitis OMIM:619398
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress ORPHA:141152
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:611638
Leber Congenital Amaurosis 2
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... OMIM:204100
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Larynx Atresia
Respiratory insufficiency, Recurrent respiratory infections ORPHA:1202
Woolly Hair Nevus
Patchy hypopigmentation of hair, Curly hair, Fine hair, Congenital posterior occipital alopecia, ... ORPHA:79414
Copper Deficiency, Familial Benign
Curly hair, Decreased circulating copper concentration, Failure to thrive, Early balding, Seborrh... OMIM:121270
Woolly Hair
Abnormal pupil morphology, Sparse body hair, Abnormal retinal morphology, Sparse lateral eyebrow,... ORPHA:170
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Hypotrichosis 4
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes OMIM:146550
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Hepatomegaly, Fundus atrophy, ... OMIM:204000
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma, Cryptorchidism OMIM:274205
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Cyanosis, Desquamative interstitial pneumonitis, Bronchiectasis, Decre... OMIM:610913
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal death, Pulmonary hypoplasia, Neonatal respiratory distress OMIM:619003
Hurler-Scheie Syndrome
Rhinitis, Hernia, Abnormal heart valve morphology, Corneal opacity, Hepatomegaly, Generalized hir... ORPHA:93476
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Phacoanaphylactic Uveitis
Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Abnormal vitreous humor morphology, ... ORPHA:209959
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Congenital Non-Bullous Ichthyosiform Erythroderma
Alopecia, Corneal erosion, Abnormality of the nail, Ectropion, Erythroderma, Keratitis, Pruritus ORPHA:79394
Gómez-López-Hernández Syndrome
Alopecia of scalp, Toenail dysplasia, Telecanthus, Corneal opacity ORPHA:1532
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Corneal scarring, Scarring, Hepatocellular carcinoma, Cutane... ORPHA:101330
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Frontal upsweep of hair, Broad eyebrow, Corneal scarring, Recurrent pneumonia, Co... OMIM:301220
Winchester Syndrome
Hirsutism, Corneal opacity OMIM:277950
Herpes Simplex Virus Stromal Keratitis
Herpetiform corneal ulceration, Descemet Membrane Folds, Corneal stromal edema, Deep anterior cha... ORPHA:137599
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... OMIM:136800
Microphthalmia, Syndromic 16
Microphthalmia, Ankyloblepharon, Anophthalmia, Sclerocornea OMIM:611038
Noonan Syndrome 4
Downslanted palpebral fissures, Sparse eyebrow, High anterior hairline, Curly hair, Ventricular s... OMIM:610733
Infant Acute Respiratory Distress Syndrome
Cyanosis, Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory fai... ORPHA:70587
Intermediate Uveitis
Tubulointerstitial nephritis, Macular edema, Vitreous haze, Posterior synechiae of the anterior c... ORPHA:279914
Aniridia 3
Cataract OMIM:617142
Noonan Syndrome 10
Downslanted palpebral fissures, Sparse eyebrow, Curly hair, High palate, Ventricular septal defec... OMIM:616564
Microphthalmia With Brain And Digit Anomalies
High palate, Anophthalmia, Retinal dystrophy, Microcornea, Iris coloboma, Cataract, Nail dysplasi... ORPHA:139471
Witkop Syndrome
Small nail, Fine hair, Nail pits, Ridged nail, Concave nail, Sparse hair OMIM:189500
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... ORPHA:293603
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Respiratory insufficiency, Ptosis, Respiratory tract infection, Neonatal respiratory distress OMIM:616326
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... OMIM:615888
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Corneal Dystrophy, Endothelial, X-Linked
Corneal dystrophy, Corneal opacity, Band keratopathy OMIM:300779
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels... OMIM:604393
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, R... ORPHA:60032
Mucous Membrane Pemphigoid
Atypical scarring of skin, Corneal opacity ORPHA:46486
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Respiratory tract infection, Bronchiectasis, Hypoxemia, Bronchiolitis obliterans, Reduced forced ... ORPHA:1303
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Death in childhood, Pulmonary hypoplasia, Death in infancy OMIM:614096
Congenital Rubella Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the iris, Skin rash, Atrial septal defect, Abnor... ORPHA:290
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch... OMIM:614195
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Neurotrophic Keratopathy
Corneal scarring, Corneal stromal edema, Astigmatism, Corneal perforation, Recurrent corneal eros... ORPHA:137596
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Brittle Cornea Syndrome 2
Umbilical hernia, Keratoglobus, Megalocornea, Inguinal hernia, Decreased corneal thickness, Corne... OMIM:614170
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Downslanted palpebral fissures, Phakodonesis, High palate, Anterior synechiae of the anterior cha... OMIM:601552
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy... OMIM:267450
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cryptogenic Organizing Pneumonia
Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect... ORPHA:1302
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pleura morphology, Restrictive ventilatory defect, Cough, Abn... ORPHA:724
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Gastrointestinal dysmotility, Corneal ulceration, Recurrent skin infections OMIM:616488
Microphthalmia, Syndromic 13
Microcornea, Ptosis, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:300915
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Downslanted palpebral fissures, Coloboma, Cataract, Microphthalmia, Clef... ORPHA:1617
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted... ORPHA:90117
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph... OMIM:221900
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal opacity, Corneal guttata, Corneal stromal edema OMIM:613267
Trichohepatoenteric Syndrome 2
Bloody diarrhea, Trichorrhexis nodosa, Diarrhea, Chronic diarrhea, Brittle hair, Villous atrophy,... OMIM:614602
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Fuchs Endothelial Corneal Dystrophy
Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci... ORPHA:98974
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Iris coloboma, Phthisis bulbi, Microphakia, Rod-cone dystrophy, Iris cys... OMIM:612109
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Trichorrhexis nodosa, Ventricular septal defect, Optic atrophy, Epicanthus, Brittle h... OMIM:234050
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Microphthalmia, Progressive cataract OMIM:604219
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... OMIM:613835
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Hypoxemia, L... OMIM:610910
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Coloboma, Left ventricular hypertrophy, Cataract, Microphthalmia, Corneal opacity, Retinal detach... OMIM:613153
Khan-Khan-Katsanis Syndrome
Patent foramen ovale, Epiblepharon, Corneal scarring, Buphthalmos, Peters anomaly, Highly arched ... OMIM:618460
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Cataract 35
Cataract OMIM:609376
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 36
Cataract OMIM:613887
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal guttata, Corneal dystrophy OMIM:610158
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy OMIM:610048
Inflammatory Bowel Disease (Crohn Disease) 1
Recurrent aphthous stomatitis, Crohn's disease, Diarrhea, Weight loss, Abdominal pain, Ulcerative... OMIM:266600
Noonan Syndrome 8
Downslanted palpebral fissures, Curly hair, Ventricular septal defect, Epicanthus, Left ventricul... OMIM:615355
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Hepatomegaly ORPHA:1980
Corneal Endothelial Dystrophy
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... OMIM:217700
Trisomy 13
Hernia, Anophthalmia, Ventricular septal defect, Optic atrophy, Aplasia/Hypoplasia of the iris, A... ORPHA:3378
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cataract 21, Multiple Types
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... OMIM:610202
Costello Syndrome
Gastroesophageal reflux, Hypoplastic toenails, Narrow palate, Ventricular septal defect, Epicanth... ORPHA:3071
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Heart murmur, Decreased testicular size, Congenital abnormal hair pattern, Cataract, Ab... ORPHA:1867
Spondylospinal Thoracic Dysostosis
Multiple pterygia, Pulmonary hypoplasia OMIM:601809
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Abnormal platelet coun... OMIM:614201
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Pneumocystosis
Respiratory insufficiency, Exertional dyspnea, Interstitial pneumonitis, Hypoxemia, Pleural effus... ORPHA:723
Anterior Segment Dysgenesis 2
Coloboma, Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters an... OMIM:610256
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Cardiofaciocutaneous Syndrome 2
Curly hair, High palate, Mitral valve prolapse, Fine hair, Ptosis, Absent eyebrow, Sparse hair OMIM:615278
Stickler Syndrome Type 2
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Cleft palate, Abnormal vitreous humor... ORPHA:90654
Keratoconus 9
Decreased corneal thickness, Keratoconus OMIM:617928
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Chops Syndrome
Patent foramen ovale, Gastroesophageal reflux, Curly hair, Aspiration pneumonia, Ventricular sept... OMIM:616368
Trichothiodystrophy 1, Photosensitive
Flexion contracture, Tiger tail banding, Pili torti, Trichorrhexis nodosa, Brittle hair, Malabsor... OMIM:601675
Foveal Hypoplasia 2
Posterior embryotoxon, Foveal hyperpigmentation, Optic nerve misrouting, Axenfeld anomaly, Astigm... OMIM:609218
X-Linked Dominant Chondrodysplasia Punctata
Downslanted palpebral fissures, Sparse eyebrow, Flexion contracture, High palate, Coarse hair, Sc... ORPHA:35173
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Downslanted palpebral fissures, Retinal fold, Upslanted palpebral fissure, Optic atrophy, Epicant... OMIM:152950
Carcinoma Of Esophagus
Gastroesophageal reflux, Weight loss, Esophageal neoplasm, Abnormal intestine morphology, Dysphag... ORPHA:70482
Acute Interstitial Pneumonia
Cyanosis, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing, Peribroncho... ORPHA:79126
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Retinal degeneration, Corneal opacity OMIM:607016
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Iris colo... ORPHA:77298
Arthrogryposis, Distal, Type 5
Congenital finger flexion contractures, Keratoglobus, Distal arthrogryposis, Retinal fold, High p... OMIM:108145
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Downslanted palpebral fissures, Sparse scalp hair, Loose anagen hair, Ventricular septal defect, ... OMIM:607721
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia, Colitis ORPHA:88643
Ciliary Dyskinesia, Primary, 5
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:608647
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... ORPHA:264675
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Severe Acute Respiratory Syndrome
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... ORPHA:140896
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Megalocornea, Anophthalmia, Aniridia, Tricuspid valve prolapse, Inguinal... ORPHA:1101
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distress, Diffuse alveolar hem... ORPHA:178320
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Corneal opacity, Ectopia lentis OMIM:613086
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Recurrent upper respir... ORPHA:922
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology ORPHA:1208
Corneal Dystrophy, Posterior Polymorphous, 3
Inguinal hernia, Corneal dystrophy, Corneal guttata OMIM:609141
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe... OMIM:178500
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress, Recurrent respirato... ORPHA:2004
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Abnormal cardiac septum morphology ORPHA:2370
Retinitis Pigmentosa
Optic atrophy, Abnormal testis morphology, Abnormality of retinal pigmentation, Cataract, Atypica... ORPHA:791
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased testicular size, Abnormal optic disc morphology, Bifid uvula, Contracture of the proxim... ORPHA:293967
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Isolated Optic Nerve Hypoplasia/Aplasia
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalm... ORPHA:137902
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Flexion contracture, Dilated cardiomyopathy, Developmental cataract, Hypertrophic cardiomyopathy,... OMIM:618815
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Sparse scalp hair, Absent eyelashes, Punctate keratitis, Scarring alopecia of sca... OMIM:602540
Erythrokeratodermia Variabilis
Alopecia, Abnormal testis morphology, Skin rash, Abnormality of the nail, Cataract, Corneal opaci... ORPHA:317
Leber Congenital Amaurosis 9
Optic atrophy, Optic disc pallor, Retinal dots, Retinal pigment epithelial mottling, Macular atro... OMIM:608553
Porphyria, Congenital Erythropoietic
Conjunctivitis, Alopecia, Joint contracture of the hand, Corneal scarring, Hypertrichosis, Absent... OMIM:263700
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia of the eyebrow,... ORPHA:1794
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... ORPHA:364055
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Aspiration pneumonia, Neonatal respiratory distress OMIM:619057
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:616867
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hirsutism, Epicanthus ORPHA:85288
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cryptophthalmos, Anophthalmia, Coloboma, Epicanthus, Long eyelashes, Microcornea, Cataract, Micro... OMIM:615877
Cardiomyopathy, Dilated, 2E
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy OMIM:619492
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Gastroesophageal reflux, Flexion contracture, High palate, Ventricular septal... OMIM:614653
Iridocorneal Endothelial Syndrome
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... ORPHA:64734
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, Macrothr... OMIM:187800
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic atrophy, Macular atrophy, Microcornea, Cataract, Microphthalmia, Optic disc pa... OMIM:616171
Noonan Syndrome 5
Downslanted palpebral fissures, Sparse eyebrow, Curly hair, Small nail, Epicanthus, Atrial septal... OMIM:611553
Cataract 11, Multiple Types
Cataract, Microphthalmia, Developmental cataract OMIM:610623
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ptosis, Pulmonary hypoplasia, Stillbirth OMIM:617468
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:3346
Microtriplication 11Q24.1
Synophrys, Long eyelashes, Upslanted palpebral fissure, Keratoconus, Thick eyebrow, Cleft palate ORPHA:289522
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Acne inversa, Perifolliculitis OMIM:613737
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Cleft palate OMIM:120433
Congenital Myopathy 1B, Autosomal Recessive
Respiratory insufficiency, Ptosis, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Harel-Yoon Syndrome
Optic atrophy, Developmental cataract, Hypertrophic cardiomyopathy, Corneal opacity, Upslanted pa... OMIM:617183
Glanzmann Thrombasthenia
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... ORPHA:849
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Inflammatory Bowel Disease 11
Diarrhea, Weight loss, Abdominal pain, Inflammation of the large intestine, Hematochezia OMIM:191390
Noonan Syndrome 6
Downslanted palpebral fissures, Curly hair, Bilateral ptosis, Epicanthus, Long eyebrows, Hypertro... OMIM:613224
Keratoconus 1
Astigmatism, Keratoconus OMIM:148300
Interstitial Lung Disease 1
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... OMIM:619611
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... OMIM:180550
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Epiretinal membrane, Conjunctival hyperemia OMIM:148200
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron... ORPHA:79127
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Mitral valve prolapse, Flexion contracture of the 2nd toe, Su... ORPHA:2712
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Idiopathic Panuveitis
Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu... ORPHA:280921
Walker-Warburg Syndrome
Anophthalmia, Optic atrophy, Retinal dystrophy, Bifid uvula, Submucous cleft hard palate, Retinal... ORPHA:899
Oculodentodigital Dysplasia
Camptodactyly of finger, Curly hair, Ventricular septal defect, Optic atrophy, Epicanthus, Brittl... ORPHA:2710
Noonan Syndrome 7
Downslanted palpebral fissures, Curly hair, Epicanthus, Impaired oropharyngeal swallow response, ... OMIM:613706
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormal nasolacrimal system morphology, Retinopathy, Leukonychia, Optic atrophy, Epicanthus, Abn... ORPHA:2526
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Respiratory distress OMIM:616733
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Fine hair, Abnormality of the nail, Cataract, Abnormal... ORPHA:573
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Neonatal death, Bilateral lung agenesis OMIM:601612
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Trichohepatoneurodevelopmental Syndrome
Recurrent pancreatitis, Epicanthus, Synophrys, Hepatomegaly, Coarse hair, Splenomegaly, Ventricul... OMIM:618268
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis OMIM:614224
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Hemosiderin-laden macrophages i... OMIM:616414
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Microphthalmia, Cataract OMIM:610092
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Frontonasal Dysplasia 1
Coloboma, Joint contracture of the hand, Epicanthus, Widow's peak, Camptodactyly, Ptosis, Catarac... OMIM:136760
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Bilateral ptosis, Ventilator dependence with inability to wean, Respir... ORPHA:254875
Morquio Syndrome C
Corneal opacity OMIM:252300
Nasopalpebral Lipoma-Coloboma Syndrome
Multiple lipomas, Sparse eyebrow, Lipomas of eyelids, Coloboma, Lacrimal punctal atresia, Widow's... ORPHA:2399
Microphthalmia, Syndromic 5
Anophthalmia, Coloboma, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Ectopic posterior... OMIM:610125
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Microphthalmia, C... OMIM:251270
Anophthalmia Plus Syndrome
Anophthalmia, Blepharophimosis, Iris coloboma, Eyelid coloboma, Cleft palate, Bilateral cleft lip... ORPHA:1104
Warburg Micro Syndrome 1
Optic atrophy, Developmental cataract, Microcornea, Ptosis, Microphthalmia, Facial hypertrichosis... OMIM:600118
Microphthalmia, Isolated 6
Retinal fold, Microphthalmia, Microcornea OMIM:613517
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Pulmonic stenosis, Mitral valve prolapse, Abnormal heart valve morphology, Ptosis ORPHA:2868
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... ORPHA:98969
Bartsocas-Papas Syndrome 2
Ankyloblepharon, Axillary pterygium, Antecubital pterygium, Popliteal pterygium, Microphthalmia, ... OMIM:619339
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Chromosome 6Q24-Q25 Deletion Syndrome
Short palpebral fissure, Hooded eyelid, Medial flaring of the eyebrow, Mitral valve prolapse, Atr... OMIM:612863
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... OMIM:613953
Gaucher Disease Type 2
Abnormal pattern of respiration, Recurrent respiratory infections, Cough, Respiratory distress ORPHA:77260
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Optic nerve hypoplasia, Hypertrophic cardiomyopathy, Cataract, Corneal opacity, Cr... ORPHA:496790
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Nonp... ORPHA:36238
Cat-Eye Syndrome
Downslanted palpebral fissures, Anal atresia, Iris coloboma, Microphthalmia, Chorioretinal coloboma ORPHA:195
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... ORPHA:60033
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Respiratory distress OMIM:615993
Developmental Delay With Variable Neurologic And Brain Abnormalities
Knee flexion contracture, Sparse lateral eyebrow, Camptodactyly, Long palpebral fissure, Astigmat... OMIM:619694
Encephalopathy Due To Prosaposin Deficiency
Respiratory insufficiency, Recurrent respiratory infections, Death in infancy ORPHA:139406
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Ventricular septal defect, Iris hypopigmentation, Cataract, Micropht... ORPHA:85194
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Astigmatism, Ptosis, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:617713
Dysequilibrium Syndrome
Cataract ORPHA:1766
Proboscis Lateralis
Abnormal nasolacrimal system morphology, Epicanthus, Abnormality of the ocular adnexa, Optic nerv... ORPHA:141099
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Downslanted palpebral fissures, Synophrys, Long palpebral fissure, Recurrent otit... OMIM:602562
Lymphoproliferative Syndrome, X-Linked, 2
Folliculitis, Hepatitis, Decreased circulating antibody level, Erythema nodosum, Inflammation of ... OMIM:300635
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Cataract, Ventricular septal defect, Hepatomegaly OMIM:614876
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:614676
Weill-Marchesani Syndrome 3
Ectopia lentis, Shallow anterior chamber, Aortic valve stenosis, Microspherophakia, Pulmonic sten... OMIM:614819
Congenital Sialidosis Type 2
Telangiectasia, Cherry red spot of the macula, Optic atrophy, Abnormal EKG, Generalized hypertric... ORPHA:93400
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Inflammatory abnormality of the eye, Vit... ORPHA:179
Braddock-Carey Syndrome 1
Enamel hypoplasia, Downslanted palpebral fissures, Curly hair, Ventricular septal defect, Aortic ... OMIM:619980
Autosomal Dominant Keratitis
Coloboma, Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Co... ORPHA:2334
Refsum Disease, Classic
Rod-cone dystrophy, Retinal degeneration, Congestive heart failure, Ptosis, Cataract, Arrhythmia,... OMIM:266500
Harlequin Ichthyosis
Sudden cardiac death, Cataract, Ectropion, Erythroderma ORPHA:457
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Naxos Disease
Abnormality of hair texture, Sparse scalp hair, Curly hair, Woolly hair ORPHA:34217
Cystic Hamartoma Of Lung And Kidney
Respiratory insufficiency, Pulmonary fibrosis, Recurrent respiratory infections ORPHA:2111
Microphthalmia, Syndromic 8
Short palpebral fissure, Blepharophimosis, Microcornea, Microphthalmia, Cryptorchidism, Cleft palate OMIM:601349
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Dissecting Cellulitis Of The Scalp
Abnormal hair morphology, Pruritus, Recurrent skin infections ORPHA:345
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Pili torti, Sparse or absent eyel... ORPHA:2891
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventricular septal defect, Cataract, Microphthalmia, Hepatomegaly, Cryptorchidism, Optic disc pallor OMIM:613730
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Cyanosis, Respiratory distress, Chronic pulmonary obstruction, P... ORPHA:2414
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Flexion contracture, Retinal dystrophy, Macroglossia, Developmental cataract, Abnormal left ventr... OMIM:613155
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi... ORPHA:411703
Atelosteogenesis, Type Ii
Respiratory insufficiency, Pulmonary hypoplasia, Stillbirth, Death in infancy OMIM:256050
Cockayne Syndrome Type 2
Conjunctivitis, Enamel hypoplasia, Flexion contracture, Anophthalmia, Scarring, Developmental cat... ORPHA:90322
Pulmonary Hemosiderosis
Respiratory insufficiency, Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage OMIM:178550
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524
Idiopathic Pulmonary Fibrosis
Abnormal pulmonary interstitial morphology, Exertional dyspnea, Bronchiectasis, Honeycomb lung, R... ORPHA:2032
Trichodysplasia-Xeroderma Syndrome
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, ... ORPHA:3361
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis, Hematochezia OMIM:613148
Cataract 42
Cataract, Developmental cataract OMIM:115900
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Coloboma, Epicanthus, Bilateral cryptorchidism, ... OMIM:618652
Immunodeficiency, Common Variable, 11
Crohn's disease, Increased circulating IgE level, Inflammation of the large intestine, Failure to... OMIM:615767
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Gastroesophageal reflux, Patent foramen ovale, Retinal degeneration, Ventricular escape rhythm, A... ORPHA:542306
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Abdominal pain, Inflammation of the large intestine, Nail dystrophy ORPHA:46487
Naxos Disease
Sudden cardiac death, Ventricular arrhythmia, Palpitations, Subungual hyperkeratosis, Sparse body... OMIM:601214
Clouston Syndrome
Conjunctivitis, Sparse eyebrow, Alopecia, Small nail, Brittle hair, Alopecia totalis, Fine hair, ... OMIM:129500
Waardenburg Syndrome Type 3
Downslanted palpebral fissures, Blepharophimosis, Acrocyanosis, Tracheomalacia, Thick eyebrow, Te... ORPHA:896
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Rere-Related Neurodevelopmental Syndrome
Gastroesophageal reflux, Ventricular septal defect, Optic atrophy, Epicanthus, Blepharophimosis, ... ORPHA:494344
Keratoconus Posticus Circumscriptus
Cleft palate, Keratoconus, Central posterior corneal opacity OMIM:244600
Microphthalmia, Isolated, With Coloboma 9
Ocular anterior segment dysgenesis, Narrow palpebral fissure, Microcornea, Ptosis, Iris coloboma,... OMIM:615145
Leopard Syndrome 3
Downslanted palpebral fissures, Curly hair, Abnormal mitral valve morphology, Abnormal aortic val... OMIM:613707
Mucolipidosis Iv
Achlorhydria, Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal ... OMIM:252650
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Long eyelashes, Microcornea, Cataract, Microphthalmia ORPHA:48431
Juvenile Sialidosis Type 2
Cherry red spot of the macula, Dysphagia, Optic atrophy, Generalized hypertrichosis, Hepatospleno... ORPHA:93399
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Atria... OMIM:602482
Transketolase Deficiency
Conjunctivitis, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Uveitis, C... ORPHA:488618
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Hypoxemia, Respiratory distr... ORPHA:70588
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Xfe Progeroid Syndrome
Enamel hypoplasia, Optic atrophy, Corneal scarring, Hypertension, Attenuation of retinal blood ve... OMIM:610965
Frontofacionasal Dysplasia
Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Blepharophimosis, Limbal dermoid, Microcorne... ORPHA:1791
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal mi... ORPHA:1354
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Narrow palpebral fissure, Pulmonary hypoplasia, Stillbirth OMIM:236500
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Cataract, Low anterior hairline, Ventricular septal defect, Atrial septal defect OMIM:608227
Congenital Varicella Syndrome
Atypical scarring of skin, Cataract, Microphthalmia ORPHA:291
Bardet-Biedl Syndrome 18
Retinal dystrophy, Cataract, Rod-cone dystrophy OMIM:615995
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Retinal dysplasia, Micropht... ORPHA:324416
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Encephalocraniocutaneous Lipomatosis
Subvalvular aortic stenosis, Alopecia, Ventricular septal defect, Hypoplasia of the iris, Limbal ... OMIM:613001
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Sparse eyebrow, Alopecia, Erysipelas, Cataract, Nail dysplasia, Hepatomegaly, Sparse eyelashes, J... OMIM:615704
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Downslanted palpebral fissures, Epicanthus, Respiratory distress, Dyspnea, Respiratory failure, R... ORPHA:2759
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Pulmonary v... OMIM:234810
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal dystrophy, Palpebral edema, Corneal opacity, Opacification of the cornea... OMIM:608470
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Pigmentary retinopathy, Lagophthalmos, Cone/cone-rod dystrophy, Optic atrophy, Bilateral ptosis, ... ORPHA:404454
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastroesophageal reflux, Poor suck, Weight loss, Poor appetite, Abnormal large intestine morpholo... ORPHA:2198
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea, Abdominal distention OMIM:616868
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Maternally-Inherited Diabetes And Deafness
Retinopathy, Malabsorption, Abnormal chorioretinal morphology, Congestive heart failure, Hyperten... ORPHA:225
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism, Chorioretinal coloboma, Epicanthus ORPHA:2489
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Epicanthus, Optic disc hypoplasia, Optic nerve hypoplasia, Upslanted palpebral fis... ORPHA:401777
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Arterial Tortuosity Syndrome
Short palpebral fissure, Ventricular hypertrophy, Downslanted palpebral fissures, Flexion contrac... OMIM:208050
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst... OMIM:217800
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Fine hair, Microcornea, Abnormal fingernail morphology, Cataract, Mic... ORPHA:1806
8Q21.11 Microdeletion Syndrome
Camptodactyly of finger, Downslanted palpebral fissures, High palate, Epicanthus, Blepharophimosi... ORPHA:284160
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Intraalveolar phospholipid accumulation, Hypoxemia, Crackles, Restrictive ventilatory d... ORPHA:747
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... ORPHA:3202
Pierpont Syndrome
High anterior hairline, Abnormal subcutaneous fat tissue distribution, Narrow palpebral fissure, ... ORPHA:487825
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Alopecia, Fragile nails, Erythroderma, Keratoconus, Sparse hair OMIM:242150
Avian Influenza
Conjunctivitis, Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Miscarriage, Ple... ORPHA:454836
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Neonatal respiratory distress... OMIM:618781
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Cataract, Microphthalmia, Hepatomegaly, Reduced systolic function, Pancre... OMIM:618805
Microphthalmia With Linear Skin Defects Syndrome
Abnormal nasolacrimal system morphology, Abnormality of the anus, Abnormal cardiac septum morphol... ORPHA:2556
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly, Microphthalmia OMIM:610023
Mulibrey Nanism
Enamel hypoplasia, Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Astig... OMIM:253250
Weill-Marchesani Syndrome
Ventricular septal defect, Ectopia lentis, Cataract, Mitral regurgitation, Aortic valve stenosis,... ORPHA:3449
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Cataract... ORPHA:1345
Trichothiodystrophy
Tiger tail banding, Multiple joint contractures, Epicanthus, Macular degeneration, Keratoconjunct... ORPHA:33364
Leopard Syndrome 2
Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Curly hair, Epicanthus OMIM:611554
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... OMIM:616108
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Short palpebral fissure, Ventricular hypertrophy, Downslanted palpebral fissures, Ventricular sep... ORPHA:284169
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Cofs Syndrome
Camptodactyly of finger, Optic atrophy, Abnormality of retinal pigmentation, Cataract, Microphtha... ORPHA:1466
3Q29 Microduplication Syndrome
Downslanted palpebral fissures, High palate, Ventricular septal defect, Ectopic anus, Camptodacty... ORPHA:251038
Idiopathic Pulmonary Hemosiderosis
Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Reticular pattern on pulmonary HR... ORPHA:99931
Alagille Syndrome
Abnormal pupil morphology, Downslanted palpebral fissures, Ventricular septal defect, Hypertensio... ORPHA:52
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Bronchiectasis, Chronic pulmonary obstruction, Dyspnea, Cough, Panacinar emph... OMIM:613490
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Short 5th metacarpal, Bicuspid aortic valve, Short finger, Clinodactyly of the 5th fin... OMIM:604381
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated bronchoalveolar lavage fluid neutrophil proportion, Asthma, Hypoxemia, Respiratory distr... OMIM:610978
Ectodermal Dysplasia 4, Hair/Nail Type
Sparse body hair, Alopecia, Pili torti, Brittle hair, Absent eyelashes, Temporal hypotrichosis, O... OMIM:602032
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Ankyloblepharon, Microphthalmia, Anophthalmia ORPHA:85275
Achondrogenesis Type 2
Cardiorespiratory arrest, Pulmonary hypoplasia ORPHA:93296
Infantile Spasms-Broad Thumbs Syndrome
Downslanted palpebral fissures, Vaginal hernia, Hypertrophic cardiomyopathy, Cataract, Optic disc... ORPHA:3173
Baraitser-Winter Syndrome 1
Epicanthus, Bicuspid aortic valve, Long palpebral fissure, Ptosis, Iris coloboma, Microphthalmia,... OMIM:243310
Sandestig-Stefanova Syndrome
High palate, Perimembranous ventricular septal defect, Epicanthus, Camptodactyly, Developmental c... OMIM:618804
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Immunodeficiency 11B With Atopic Dermatitis
Disseminated molluscum contagiosum, Decreased circulating total IgM, Bronchiectasis, Ulcerative c... OMIM:617638
Dyssegmental Dysplasia, Silverman-Handmaker Type
Respiratory insufficiency, Neonatal death, Pterygium, Pulmonary hypoplasia OMIM:224410
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Vomiting, Pancolitis, Abdominal pain, Ileitis, Abnormal intestine morphology, Ga... OMIM:619079
Congenital Tracheomalacia
Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hy... ORPHA:95430
Agnathia-Otocephaly Complex
Downslanted palpebral fissures, Tracheomalacia, Pulmonary hypoplasia, Respiratory distress OMIM:202650
Renal Tubular Dysgenesis
Respiratory insufficiency, Pulmonary hypoplasia OMIM:267430
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Short digit, Short 5th metacarpal, Clinodactyly of the 5th finger ORPHA:228190
Acrokeratoderma, Hereditary Papulotranslucent