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Gene: Tcf21 MGI:1202715

Gene Summary

Name:

transcription factor 21

Synonyms:

Pod1, capsulin, podocyte-expressed 1, Pod-1, epicardin, bHLHa23, epc

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	Allele	Zyg	Life Stage	P Value
abnormal ovary morphology	Tcf21^em1(IMPC)Mbp	HET	Early adult	0.00
anophthalmia	Tcf21^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta morphology	Tcf21^em1(IMPC)Mbp	HET	E15.5	0.00
embryonic growth retardation	Tcf21^em1(IMPC)Mbp	HET	E15.5	0.00
edema	Tcf21^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta morphology	Tcf21^em1(IMPC)Mbp	HOM	E15.5	0.00
increased circulating calcium level	Tcf21^em1(IMPC)Mbp	HET	Early adult	3.04×10^-05
enlarged testis	Tcf21^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal spleen morphology	Tcf21^em1(IMPC)Mbp	HET	Early adult	0.00
microphthalmia	Tcf21^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal kidney morphology	Tcf21^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta vasculature	Tcf21^em1(IMPC)Mbp	HOM	E15.5	0.00
enlarged kidney	Tcf21^em1(IMPC)Mbp	HET	Early adult	0.00
small spleen	Tcf21^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal eye morphology	Tcf21^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal testis morphology	Tcf21^em1(IMPC)Mbp	HET	Early adult	0.00
microphthalmia	Tcf21^em1(IMPC)Mbp	HOM	E15.5	0.00
persistence of hyaloid vascular system	Tcf21^em1(IMPC)Mbp	HET	Early adult	2.68×10^-05
edema	Tcf21^em1(IMPC)Mbp	HET	E15.5	0.00
preweaning lethality, complete penetrance	Tcf21^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal blood vessel morphology	Tcf21^em1(IMPC)Mbp	HOM	E15.5	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Gross Morphology Embryo E14.5-E15.5

Images

21 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Tcf21 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.

Human diseases associated with Tcf21 (0 diseases)
Human diseases predicted to be associated with Tcf21 (1788 diseases)

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

The table below shows human diseases predicted to be associated to Tcf21 by phenotypic similarity.

Disease	Matching phenotypes	Source
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Hypospadias, Renal agenesis, Ventricular se...	ORPHA:139466
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Exte...	OMIM:615993
Oligomeganephronia	Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Secundum...	ORPHA:2260
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Hypospadias, Renal agenesis, Ventricular septal defect, Ovotestis, Pul...	OMIM:611812
Renal Tubular Dysgenesis	Polyhydramnios, Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Pulmonary hypopl...	ORPHA:3033
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, 3-Methylglutaconic aciduria, Apnea, Pulmonary hypoplasia	OMIM:615228
Renal Hypodysplasia/Aplasia 2	Redundant skin, Bilateral renal agenesis, Pulmonary hypoplasia	OMIM:615721
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon...	OMIM:263000
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Bilateral renal agenesis, Pulmonary hypoplasia	OMIM:619887
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lo...	OMIM:615415
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Hypertension, Abnormal renal corticomedullary differentiation, Pulmonary hy...	OMIM:616733
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Polyhydramnios, Pulmonary hypoplasia, Renal dysplasia, Oligohydramnios	ORPHA:3032
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Ambiguous genitalia, Renal agenesis, Unilateral renal agenesis, Ectopic kidn...	OMIM:617641
Jeune Syndrome	Renal insufficiency, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Nephronophthisis...	ORPHA:474
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Lipedema	Edema	OMIM:614103
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, ...	ORPHA:60026
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Hypogonadism, Nephronophthisis, Chr...	OMIM:616629
Lessel-Kubisch Syndrome	Hypertension, Renal insufficiency, Hypogonadism, Renal hypoplasia	OMIM:618681
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Thrombocytopenia, Abn...	ORPHA:2123
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ...	ORPHA:439232
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaundice, Renal cyst, Hepatosplenom...	OMIM:619902
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Nephrolithiasis, Papillary renal c...	OMIM:145001
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Nonimmune hydrops fetalis,...	OMIM:619003
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th...	OMIM:208540
Microphthalmia, Syndromic 9	Agenesis of pulmonary vessels, Atrial septal defect, Neonatal death, Pulmonary artery atresia, Pe...	OMIM:601186
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Ce...	OMIM:614034
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti...	ORPHA:2302
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, External genital hypoplasia, Partial atrioventric...	OMIM:615996
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Abnormality of the ur...	ORPHA:1046
Matthew-Wood Syndrome	Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Aplasia/Hypoplasia ...	ORPHA:2470
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Pulmonary hypoplasia, Neonatal death...	OMIM:236500
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
46,Xy Sex Reversal 4	Renal dysplasia, Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uteru...	OMIM:154230
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia...	OMIM:612965
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Blue Diaper Syndrome	Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia, Anemia	ORPHA:2668
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Focal Segmental Glomerulosclerosis 1	Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertens...	OMIM:603278
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg...	OMIM:615285
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Gombo Syndrome	Microphthalmia, Delayed puberty	OMIM:233270
Meier-Gorlin Syndrome 8	Unilateral renal hypoplasia, Bilateral cryptorchidism, Nephroptosis	OMIM:617564
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Renal Cysts And Diabetes Syndrome	Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ...	OMIM:137920
Hadziselimovic Syndrome	Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Pulmo...	OMIM:612946
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Gillessen-Kaesbach-Nishimura Syndrome	Polyhydramnios, Abnormal lung lobation, Abnormal heart morphology, Bicornuate uterus, Pulmonary h...	OMIM:263210
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia	ORPHA:46532
Hyperparathyroidism 4	Nephrolithiasis, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:617343
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Death in infancy, Respiratory distress, Hypospadias, Unilateral cryptorchidism, Po...	OMIM:300219
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:611638
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Dehydration, Sex re...	ORPHA:168558
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Microphthalmia, Syndromic 12	Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Bicornuate uterus, Pulmonary ...	OMIM:615524
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
46,Xy Sex Reversal 6	Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy...	OMIM:613762
Odontochondrodysplasia 1	Respiratory distress, Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia, P...	OMIM:184260
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h...	ORPHA:96179
Hypoglossia With Situs Inversus	Asplenia, Upper airway obstruction, Respiratory distress, Polysplenia	OMIM:612776
Pallister-Hall-Like Syndrome	Death in infancy, Pulmonary hypoplasia, Micropenis, Anterior hypopituitarism, Renal dysplasia	OMIM:241800
Tonne-Kalscheuer Syndrome	Hypospadias, Cryptorchidism, Abnormal heart morphology, Pulmonary hypoplasia, Micropenis, Decreas...	OMIM:300978
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Renal Hypodysplasia/Aplasia 1	Proteinuria, Primary amenorrhea, Hypertension, Bicornuate uterus, Bilateral renal agenesis, Vagin...	OMIM:191830
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology...	ORPHA:50251
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Edema, Intrauterine growth retardation	OMIM:616570
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Abnormal testis morphology, Hy...	ORPHA:1548
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia, Purpura	ORPHA:3204
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Maternal diabetes...	ORPHA:3027
Holzgreve Syndrome	Hypoplastic left heart, Renal agenesis, Renal hypoplasia	OMIM:236110
Meckel Syndrome, Type 8	Anophthalmia, Polycystic kidney dysplasia, Ambiguous genitalia, Microphthalmia, Hyperechogenic ki...	OMIM:613885
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Hypercalcemia, Decreased response to growth hormone stimulation test, Cryptorchidism...	OMIM:614732
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit...	OMIM:265120
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Ureteral stenosis, Apnea, Dextro...	ORPHA:2257
Distal Duplication 6P	Hydronephrosis, Abnormality of the urinary system, Abnormal lung lobation, Renal hypoplasia	ORPHA:1745
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Recurrent viral upper respiratory tract i...	OMIM:619773
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Ventricular septal defect, Respiratory insufficiency, Respirato...	OMIM:253300
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting, Adrenocorticotropic hormone excess, Sex reversal, Hyperaldosteronism, Adrenal...	OMIM:613743
Meacham Syndrome	Bicuspid aortic valve, Blind vagina, Death in childhood, Atrial septal defect, Scimitar anomaly, ...	OMIM:608978
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar h...	ORPHA:99931
Senior-Loken Syndrome	Premature ovarian insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease, Hyperten...	ORPHA:3156
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Rhyns Syndrome	Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Renal Agenesis	Renal insufficiency, Absent vas deferens, Proteinuria, Renal agenesis, Unilateral renal agenesis,...	ORPHA:411709
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis	OMIM:239199
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Severe Congenital Nemaline Myopathy	Hypospadias, Polyhydramnios, Edema of the dorsum of hands, Respiratory failure, Pulmonary hypopla...	ORPHA:171430
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of penis, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Renal hypoplasia,...	ORPHA:2256
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Cyanosis, Crackles, Nonproductive cou...	ORPHA:1302
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC...	ORPHA:79126
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Isolated Atp Synthase Deficiency	Respiratory distress, Dilated cardiomyopathy, Renal hypoplasia, 3-Methylglutaconic aciduria, Hypo...	ORPHA:254913
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Pyruvate Dehydrogenase E1-Alpha Deficiency	Neonatal respiratory distress, Ventricular septal defect, Recurrent aspiration pneumonia, Abnorma...	ORPHA:79243
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop...	OMIM:609583
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Micropenis...	OMIM:616897
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Polyhydramnios, Adrenal hypoplasia, Cryptorchidism, Sex reversal, Mic...	OMIM:612651
46,Xy Sex Reversal 1	Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute...	OMIM:400044
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Joubert Syndrome 15	Ambiguous genitalia, Micropenis, Nephronophthisis	OMIM:614464
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Thrombocytopenia, Lymphadenopathy, Hematuria, Neoplasm of the live...	ORPHA:69077
Marden-Walker Syndrome	Hypospadias, Dextrocardia, Cryptorchidism, Renal hypoplasia, Pulmonary hypoplasia, Micropenis	OMIM:248700
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Hypercalcemia, Infantile, 1	Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci...	OMIM:143880
Microphthalmia, Isolated 4	Microphthalmia, Absent testis, Coloboma	OMIM:613094
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri...	ORPHA:99879
Prune Belly Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, Renal insufficiency, Hydroureter,...	ORPHA:2970
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Genitopatellar Syndrome	Multicystic kidney dysplasia, Small scrotum, Apnea, Cryptorchidism, Pulmonary hypoplasia, Atrial ...	ORPHA:85201
Emanuel Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Truncus arteriosus, Ventric...	OMIM:609029
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Renal cyst, Hydrops fetalis, Pulmonary hypoplasia, Polycystic kidn...	OMIM:614091
Combined Oxidative Phosphorylation Deficiency 8	Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract...	OMIM:614096
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic...	OMIM:615382
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Renal agenesis, Hypospadias, Cryptorchidism, Renal hypoplasia, Micropenis	ORPHA:171839
Bardet-Biedl Syndrome 10	Renal insufficiency, Hypogonadism, Renal cyst	OMIM:615987
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Renal hypoplasia, External genital hypoplasia	OMIM:600151
Emanuel Syndrome	Recurrent respiratory infections, Truncus arteriosus, Ventricular septal defect, Unilateral renal...	ORPHA:96170
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Hepatic cysts, Glomerular subepithelial immune-complex de...	OMIM:614377
Autosomal Recessive Amelia	Hypoplasia of penis, Small scrotum, Polyhydramnios, Cryptorchidism, Aplasia/Hypoplasia of the lun...	ORPHA:1027
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyski...	OMIM:244400
Distal Triplication 15Q	Abnormal external genitalia, Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe...	ORPHA:314588
Pagod Syndrome	Death in infancy, Multicystic kidney dysplasia, Sudden cardiac death, Renal hypoplasia/aplasia, S...	ORPHA:991
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormal morphology of female internal genitalia, Pulmonary hypoplasia	ORPHA:2141
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough, Pulmonary edema	ORPHA:330012
Diaphanospondylodysostosis	Respiratory distress, Nephrogenic rest, Increased nuchal translucency, Nephroblastomatosis, Horse...	OMIM:608022
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Cyanosis, Splenomegaly, Chronic pulmonary obstruction, Cough,...	ORPHA:2414
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex...	OMIM:400045
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur...	OMIM:145980
Gaucher Disease Type 2	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Cough, Abnorm...	ORPHA:77260
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Rena...	ORPHA:75389
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Bresek Syndrome	Renal dysplasia, Hypoplasia of the bladder, Cryptorchidism, Renal hypoplasia, Neonatal death, Ves...	ORPHA:85284
Nephronophthisis 15	Nephronophthisis	OMIM:614845
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:245650
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Recurrent respiratory infections, Atrial septal defect, Hypospadias, Ventricular septal defect, P...	OMIM:618316
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Hypercalcemia, Splenomegaly, Cryptorchidism, Hypercalciuria, Mucopo...	OMIM:618440
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Mesangial hypercellularity, Dyspnea, Tachypnea, Crescentic glomerulonephritis, Abnormal pulmonary...	OMIM:616414
Breath-Holding Spells	Iron deficiency anemia, Cyanosis, Pallor	OMIM:607578
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Recurrent upper respiratory tract infections, Recurrent pneumonia, Primar...	OMIM:614962
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Oxyge...	ORPHA:60025
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pancreatic islet cell adenoma, Hypercalcemia, Pituitary null cell adenom...	ORPHA:97289
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proxima...	OMIM:231680
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp...	OMIM:610910
Short-Rib Thoracic Dysplasia 12	Ventricular septal defect, Edema, Polyhydramnios, Atelectasis, Renal hypoplasia, Respiratory insu...	OMIM:269860
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Congenital Muscular Dystrophy With Intellectual Disability	Cryptorchidism, Micropenis, Respiratory failure, Respiratory insufficiency	ORPHA:370968
Cach Syndrome	Premature ovarian insufficiency, Renal hypoplasia, Secondary amenorrhea, Primary amenorrhea, Gona...	ORPHA:135
Joubert Syndrome 7	Central apnea, Episodic tachypnea, Tachypnea, Stage 5 chronic kidney disease, Renal cyst, Nephron...	OMIM:611560
Acute Myelomonocytic Leukemia	Eosinophilia, Dyspnea, Leukocytosis, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Abnormality of ...	ORPHA:90117
Meckel Syndrome 14	Tricuspid regurgitation, Increased nuchal translucency, Pneumothorax, Oligohydramnios, Cardioresp...	OMIM:619879
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Fetal pyelectasis, Pulmonary hypoplasia	OMIM:616531
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht...	OMIM:619113
Pseudo-Torch Syndrome 2	Acute respiratory distress syndrome, Cerebral hemorrhage, Secundum atrial septal defect, Respirat...	OMIM:617397
X-Linked Sideroblastic Anemia	Dyspnea, Splenomegaly, Pallor, Anemia	ORPHA:75563
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased testicular size, Renal dysplasia, Hydroureter, Ventricular septal d...	OMIM:146510
Orofaciodigital Syndrome Xvii	Micropenis, Tetralogy of Fallot, Renal hypoplasia	OMIM:617926
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Renal tubula...	OMIM:614922
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp...	OMIM:145981
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Polyhydramnios, Urethral atresia, Pulmonary hypoplasia, Transposition of the great ...	OMIM:314390
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Asplenia, Thrombocytopenia, Hematuria, Hypoplastic spleen, Bruisi...	OMIM:185070
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number, Hypergonadotropic hypogonadism, Respiratory insufficiency due to ...	ORPHA:352447
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi...	ORPHA:70587
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Hypospadias, Apnea, Polyhydramnios, Tracheob...	OMIM:114290
Renal Tubular Dysgenesis	Anuria, Respiratory insufficiency, Abnormality of the urinary system, Pulmonary hypoplasia, Hypot...	OMIM:267430
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu...	OMIM:278850
Syndromic X-Linked Intellectual Disability 7	Cryptorchidism, Hypoplasia of penis, Hypogonadism, Micropenis	ORPHA:85274
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Partington Syndrome	Macroorchidism	ORPHA:94083
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Increased nuchal translucen...	OMIM:618494
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Mediastin...	ORPHA:91359
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Fanconi Anemia, Complementation Group F	Atrial septal defect, Pneumonia, Decreased response to growth hormone stimulation test, Polyhydra...	OMIM:603467
Hyperparathyroidism 1	Primary hyperparathyroidism, Hypercalcemia	OMIM:145000
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ...	ORPHA:90301
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e...	OMIM:267450
Congenital Varicella Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:291
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Renal Hypoplasia, Bilateral	Neonatal respiratory distress, Proteinuria, Edema, Cryptorchidism, Chronic kidney disease, Oligur...	ORPHA:97362
Meckel Syndrome, Type 6	Abnormal internal genitalia, Absent gallbladder, Bilobed right lung, Renal cyst, Horseshoe kidney...	OMIM:612284
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Abnormality of the endocrine system, Cryptorchidism, Renal hypoplasia, Pseudohypoparathyroidism, ...	ORPHA:464288
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr...	OMIM:614840
46,Xy Sex Reversal 9	Sex reversal, Gonadal dysgenesis, Fused labia minora, Ambiguous genitalia	OMIM:616067
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Nonimmune hydrops fetalis, Adrenal hypoplasia, Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia	OMIM:613124
Joubert Syndrome 3	Central apnea, Episodic tachypnea, Stage 5 chronic kidney disease, Nephronophthisis, Atrial septa...	OMIM:608629
Methemoglobinemia, Beta Type	Cyanosis, Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis, Methemoglobinemia	OMIM:617973
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Coloboma, Micr...	OMIM:610125
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Congenital Myopathy 17	Polyhydramnios, Respiratory tract infection, Renal hypoplasia, Respiratory insufficiency, Pulmona...	OMIM:618975
Perching Syndrome	Respiratory distress, Cyanosis	OMIM:617055
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Cryptorchidism, Renal hypoplasia, Renal cyst, Respiratory insufficiency, Stillbirth, Pulmonary hy...	OMIM:616300
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary obstructio...	OMIM:613490
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Primary hyper...	OMIM:239200
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Cryptorchidism, Hypothyroidism, Renal hypoplasia, Delayed puberty	OMIM:616817
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism	OMIM:300238
Congenital Diaphragmatic Hernia	Hypoxemia, Pulmonary hypoplasia, Respiratory distress	ORPHA:2140
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas...	OMIM:266810
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Cryptorchidism	OMIM:164180
Trisomy 13	Anophthalmia, Displacement of the urethral meatus, Cryptorchidism, Optic atrophy, Abnormality of ...	ORPHA:3378
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent respiratory infections, Absence of renal corticomedullary differentiation, Secundum atr...	OMIM:619758
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Small scrotum, Pneumonia, Edema, Polyhydramnios, Cryptorchidism...	ORPHA:98905
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt...	ORPHA:3226
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Glandular hypospadias,...	OMIM:620306
Lethal Congenital Contracture Syndrome 11	Pulmonary hypoplasia, Polyhydramnios	OMIM:617194
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Edema	OMIM:189800
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Polyhydramnios, Respiratory failure, Pulmonary hypoplasia, Patent ...	OMIM:616867
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E...	OMIM:619658
Adams-Oliver Syndrome 6	Cutis marmorata, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis	OMIM:616589
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:2631
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo...	OMIM:115197
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Bifid scrotum, Renal insufficiency, Hypoplasia of penis, Telangiectasia of the skin, Cryptorchidi...	ORPHA:85321
Parathyroid Carcinoma	Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:608266
Nephrosialidosis	Pericardial effusion, Ascites	OMIM:256150
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Respiratory distress, Elevated circulating thyroid-stimulating hormone concen...	ORPHA:209905
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hypocal...	OMIM:612526
Mckusick-Kaufman Syndrome	Hydroureter, Edema, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Pedal edema, Rec...	OMIM:236700
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Hypoplastic left heart, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Penile Agenesis	Atrial septal defect, Urethral atresia, male, Hydroureter, Ventricular septal defect, Maternal di...	ORPHA:49
Bardet-Biedl Syndrome 5	Micropenis, Hypogonadism, External genital hypoplasia	OMIM:615983
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu...	ORPHA:91348
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Gracile Bone Dysplasia	Asplenia, Death in infancy, Micropenis, Hypoplastic spleen	OMIM:602361
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri...	OMIM:615862
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Blue Diaper Syndrome	Nephrocalcinosis, Blue urine, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperphosphaturia, Pancytopenia, Elevated circulating growth hor...	ORPHA:562
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral renal agenesis, Hyperech...	OMIM:617914
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic kidney disease, Renal hypo...	OMIM:614376
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Even-Plus Syndrome	Atrial septal defect, Recurrent urinary tract infections, Renal hypoplasia, Vesicoureteral reflux...	OMIM:616854
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Czeizel-Losonci Syndrome	Dextrocardia, Ureteral agenesis, Congenital megaureter, Abnormality of the urinary system, Hypopl...	ORPHA:2437
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Meckel Syndrome 12	Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bilateral renal agenesis, Vagina...	OMIM:616258
Cardiac-Urogenital Syndrome	Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe...	OMIM:618280
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Hypospadias	OMIM:300934
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Hypospadias, Abnormality of the kidney, Abnormal pulmonary valve morphology, Cr...	ORPHA:1194
Split-Hand/Foot Malformation 3	Renal hypoplasia	OMIM:246560
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Peroxisome Biogenesis Disorder 1A (Zellweger)	Neonatal respiratory distress, Hypospadias, Ventricular septal defect, Adrenal hypoplasia, Crypto...	OMIM:214100
Vacterl Association With Hydrocephalus	Renal hypoplasia, Respiratory insufficiency, Abnormal heart morphology, Respiratory failure, Stil...	OMIM:276950
Evans Syndrome	Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Jaundice, Neutropen...	ORPHA:1959
Adamantinoma	Hypercalcemia	ORPHA:55881
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Congestive heart failure, Nonprod...	ORPHA:454836
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia	ORPHA:172
Small Cell Carcinoma Of The Bladder	Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia	ORPHA:284400
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:609054
46,Xy Sex Reversal 8	Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia	OMIM:614279
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, Cryptorchidism, Bicornuate uterus, Abn...	ORPHA:2059
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Anemia	ORPHA:100025
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Burkitt Lymphoma	Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Abnormali...	ORPHA:543
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, Cardiomyopathy, Respiratory fail...	ORPHA:445038
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Adrenal hypoplasia, Periorbital edema, Atelectasis, Recurrent pneumonia, Hypopl...	OMIM:613177
Pulmonary Capillary Hemangiomatosis	Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Mediastinal lymphadenopathy, Dyspnea, Hem...	ORPHA:199241
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism	OMIM:300624
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f...	OMIM:194080
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Pallor, Exertional dyspnea	ORPHA:90037
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Ventricular septal defect, Respiratory failure, Pulmonary hypoplasia, Ambig...	OMIM:617895
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Multicystic kidney dysplasia, Respiratory insufficiency, Hypert...	ORPHA:2111
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Apnea	OMIM:610992
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
Bardet-Biedl Syndrome 4	External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism	OMIM:615982
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Recurrent respiratory infections, Polyhydramnios, Cryptorchidism, Respiratory insufficiency, Neph...	OMIM:615633
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu...	OMIM:178500
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Small scrotum, Neonatal respiratory distress, Cryptorchidism, Absence of lab...	ORPHA:2990
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Atrial septal defect, Ureteral hypoplasia, Polyhydramnios,...	OMIM:614080
Mosaic Trisomy 1	Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Renal cortical cysts, R...	ORPHA:1692
Cryofibrinogenemia, Familial Primary	Hematuria, Acrocyanosis, Transient nephrotic syndrome	OMIM:123540
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Polyembryoma	Abnormal peritoneum morphology, Isosexual precocious puberty, Elevated circulating alpha-fetoprot...	ORPHA:180229
Congenital Tracheomalacia	Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost...	ORPHA:95430
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C...	ORPHA:264675
Arthrogryposis Multiplex Congenita 6	Death in infancy, Hypospadias, Polyhydramnios, Respiratory failure, Death in childhood, Neonatal ...	OMIM:619334
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Pulmonary hypoplasia	OMIM:618174
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary venous occlusion, Dyspnea, Mediastinal lymphadenopathy, Pulmonary capillary hemangiomat...	OMIM:234810
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug...	ORPHA:2004
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic a...	OMIM:604273
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Renal insufficiency, Death in infancy, Proteinuria, Pancreatic ...	OMIM:208500
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Asplenia, Abnormal lung lobation, Horseshoe kidney, Multipl...	ORPHA:99776
Thanatophoric Dysplasia	Abnormality of the kidney, Polyhydramnios, Increased nuchal translucency, Respiratory insufficien...	ORPHA:2655
Pentalogy Of Cantrell	Absent gallbladder, Renal agenesis, Hypospadias, Abnormal pericardium morphology, Ventricular sep...	ORPHA:1335
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Urethral atresia, Aplasia of the vagina, Pulmonary hypoplasia, Aplasia...	OMIM:271520
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m...	OMIM:611590
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagn...	ORPHA:2239
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla...	ORPHA:99880
Mosaic Trisomy 16	Hypospadias, Ventricular septal defect, Maternal diabetes, Abnormal lung morphology, Horseshoe ki...	ORPHA:1708
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Polyhydramnios, Hydrops fetalis, Respiratory insufficiency, Pul...	OMIM:255320
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Elevated c...	OMIM:610978
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia, Iris coloboma	ORPHA:77298
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure, Hydroureter, Hydronephrosis	OMIM:618240
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Joubert Syndrome 22	Renal hypoplasia	OMIM:615665
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Hepatic Veno-Occlusive Disease	Renal insufficiency, Ascites, Respiratory failure	ORPHA:890
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Pulmonary fibrosis, Gly...	OMIM:618913
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ...	ORPHA:399805
Dermatitis, Atopic	Allergic rhinitis, Asthma, Facial erythema, Pallor, Dry skin	OMIM:603165
Nanophthalmos	Microphthalmia	ORPHA:35612
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Abnormal urinary color, Renal neop...	ORPHA:538
Atelosteogenesis, Type Ii	Death in infancy, Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:256050
Atelosteogenesis Type I	Abnormal pancreatic duct morphology, Multiple renal cysts, Pulmonary hypoplasia, Polyhydramnios	ORPHA:1190
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True ...	OMIM:615113
Alg9-Cdg	Hypoplasia of the bladder, Tricuspid regurgitation, Ventricular septal defect, Ureteral hypoplasi...	ORPHA:79328
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Unilateral renal agenesis	OMIM:608572
Meacham Syndrome	Hypoplasia of penis, Abnormal lung lobation, Conotruncal defect, Abnormal fallopian tube morpholo...	ORPHA:3097
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert...	OMIM:619751
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla...	ORPHA:143
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Sideroblastic anemia, Hepatomegaly, Respiratory insufficiency due to muscle...	OMIM:613561
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Small scrotum, Cryptorchidism, Death in childhood, Micropenis	OMIM:615597
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Asplenia, Pulmonary arterial hypertension, Annular panc...	ORPHA:210122
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Facial palsy, Cardiogenic...	OMIM:619424
Radio-Renal Syndrome	Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Dys...	ORPHA:3015
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Malaria	Anemia, Acute kidney injury, Respiratory distress, Thrombocytopenia	ORPHA:673
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Acrocephalopolydactylous Dysplasia	Pancreatic fibrosis, Pulmonary hypoplasia, Extrapulmonary sequestrum, Ascites, Cystic renal dyspl...	OMIM:200995
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, Pulmonary hypoplasia	OMIM:617468
Ulbright-Hodes Syndrome	Abnormal penis morphology, Respiratory distress, Abnormal external genitalia, Enlarged labia mino...	ORPHA:3404
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Cyanosis, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Cryptorchidism, Chorioretinal coloboma, Microphthalmia, Iris coloboma	ORPHA:139471
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin...	ORPHA:79127
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Right Atrial Isomerism	Asplenia, Abnormal lung lobation, Total anomalous pulmonary venous return, Polysplenia, Pulmonary...	OMIM:208530
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Neonatal respiratory distress, Ketonuria, Renal hypoplasia, Hypertrophic cardiomyopathy, Oligohyd...	OMIM:619053
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Pulmonary hypoplasia	OMIM:601163
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Renal insufficiency, Lacticaciduria, Aminoaciduria, Respiratory failure, Adrena...	OMIM:619386
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br...	OMIM:615294
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormally large globe, Splenomegaly, Cryptorchidism, Abnormal renal morphology, Pa...	ORPHA:1655
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Respiratory failure, Reduced left...	ORPHA:542323
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Slc35A1-Cdg	Respiratory distress, Subcutaneous hemorrhage, Pneumonia, Giant platelets, Hypoxemia, Neutropenia...	ORPHA:238459
Distal Limb Deficiencies-Micrognathia Syndrome	Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Nanophthalmos 4	Microphthalmia	OMIM:615972
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Hepatomegaly, Bilateral trilobed lung, Cyanosis, Renal agenesis, Asplenia, ...	OMIM:306955
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,...	ORPHA:1834
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries	ORPHA:284180
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Iris coloboma, Hypospadias, Unilateral microphthalmos	OMIM:618874
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right...	ORPHA:99095
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp...	ORPHA:36238
Congenital Arthrogryposis With Anterior Horn Cell Disease	Neonatal death, Cryptorchidism, Respiratory failure, Respiratory insufficiency due to muscle weak...	OMIM:611890
Cornelia De Lange Syndrome 1	Hypospadias, Pneumonia, Proteinuria, Ectopic kidney, Ventricular septal defect, Cryptorchidism, A...	OMIM:122470
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Autoimmune thrombocytopenia, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstr...	OMIM:601389
Nephronophthisis 19	Stage 5 chronic kidney disease, Bile duct proliferation, Renal interstitial fibrosis, Nephronopht...	OMIM:616217
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Cardiomegaly, Respirato...	ORPHA:308552
Tarp Syndrome	Apnea, Cryptorchidism, Horseshoe kidney, Pulmonary hypoplasia, Atrial septal defect, Tetralogy of...	ORPHA:2886
Familial Isolated Restrictive Cardiomyopathy	Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventricular arrhythmi...	ORPHA:75249
Acrorenal-Mandibular Syndrome	Absent nipple, Renal agenesis, Abnormality of the ureter, Uterus didelphys, Bicornuate uterus, Ap...	OMIM:200980
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog...	ORPHA:251004
2P21 Microdeletion Syndrome	Nephrolithiasis, Hypogonadism, Hypocalcemia, Cystinuria	ORPHA:163693
Scedosporiosis	Pericarditis, Diabetes mellitus, Sinusitis, Pneumonia, Bronchitis, Bronchial breath sound, Abnorm...	ORPHA:449280
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Neonatal respiratory distress, Renal hypopla...	OMIM:617595
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Verheij Syndrome	Ventricular septal defect, Renal agenesis, Renal hypoplasia, Renal cyst, Truncus arteriosus	OMIM:615583
Achondrogenesis Type 2	Cardiorespiratory arrest, Pulmonary hypoplasia, Edema	ORPHA:93296
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Image Syndrome	Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hypogonadism, Hydronephrosis	ORPHA:85173
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp...	ORPHA:178320
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr...	OMIM:241500
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Poly...	OMIM:229850
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Cenani-Lenz Syndactyly Syndrome	Renal agenesis, Renal hypoplasia, Pulmonic stenosis, Ectopic kidney	OMIM:212780
46,Xy Sex Reversal 5	Sex reversal, Elevated circulating follicle stimulating hormone level	OMIM:613080
Fetal Akinesia Deformation Sequence	Cryptorchidism, Respiratory insufficiency, Pulmonary hypoplasia, Polyhydramnios	ORPHA:994
Dyssegmental Dysplasia, Silverman-Handmaker Type	Neonatal death, Cryptorchidism, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:224410
Oculoskeletodental Syndrome	Nephrocalcinosis, Hypercalcemia, Hypocalcemia	ORPHA:557003
Fanconi Anemia, Complementation Group I	Atrial septal defect, Ventricular septal defect, Decreased response to growth hormone stimulation...	OMIM:609053
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Microphthalmia, Short stature	ORPHA:2528
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Pulmonary hypoplasia, Pulm...	OMIM:619148
Rhyns Syndrome	Renal insufficiency, Decreased response to growth hormone stimulation test, Chronic kidney diseas...	OMIM:602152
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Renal hypoplasia/aplasia, Oligohydramnios, Pulmonary hypoplasia, Abnormality of female external g...	ORPHA:1112
Idiopathic Bronchiectasis	Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Produ...	ORPHA:60033
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Angio...	ORPHA:449285
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Respiratory failu...	OMIM:617666
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Situs inversus ...	OMIM:608647
Joubert Syndrome 2	Central apnea, Renal insufficiency, Episodic tachypnea, Renal cyst, Nephronophthisis, Hypoplastic...	OMIM:608091
Pseudotrisomy 13 Syndrome	Renal agenesis, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Cryptorchidism, Comp...	OMIM:264480
Vacterl/Vater Association	Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Po...	ORPHA:887
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Ventricular septal defect, Nephronophthisis	OMIM:615630
Sepsis In Premature Infants	Hepatomegaly, Cyanosis, Abnormal mucociliary clearance, Thrombocytopenia, Jaundice, Leukocytosis,...	ORPHA:90051
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism	ORPHA:3077
Mercury Poisoning	Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f...	ORPHA:330021
1Q41Q42 Microdeletion Syndrome	Cryptorchidism, Hypergonadotropic hypogonadism, Pulmonary hypoplasia	ORPHA:250999
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, A...	OMIM:612387
Tetraploidy	Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the thymus, Hydronephrosis, Renal hypoplas...	ORPHA:3305
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Cold Agglutinin Disease	Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor	ORPHA:56425
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Portal hypertension, Malformation of the hepatic duc...	ORPHA:84081
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
Non-Functioning Paraganglioma	Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u...	ORPHA:94080
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
46,Xx Sex Reversal 3	Sex reversal	OMIM:300833
46,Xy Sex Reversal 2	Sex reversal	OMIM:300018
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Endometrial carcinoma, Adrenal hyperplasia, Male pseudohermaphroditism, Jaundice, H...	ORPHA:90790
Goodpasture Syndrome	Crackles, Nodular pattern on pulmonary HRCT, Tachypnea, Pallor, Cough, Restrictive ventilatory de...	OMIM:233450
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Optic atrophy, Neutropenia, Anemia, Ne...	OMIM:617303
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Portal hypertension, Nodular regenerative hyperplasia of liver, Crackles, Dyspnea, Abnormal pleur...	ORPHA:210136
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal heart valve morphology, Pericardial ef...	ORPHA:36412
Fragile X Syndrome	Macroorchidism	ORPHA:908
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Emphysema	ORPHA:60
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a...	ORPHA:284426
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Nonproductive cough, Leukocytosis, Dyspnea, Hypereosinophilia, Wheezing, Asthma, Atelec...	ORPHA:2902
Infantile Myofibromatosis	Neoplasm of the pancreas, Hypercalcemia, Abnormality of the kidney	ORPHA:2591
Glucose-Galactose Malabsorption	Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia	ORPHA:35710
Stt3B-Cdg	Respiratory distress, Cryptorchidism, Micropenis, Small scrotum	ORPHA:370924
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Ulnar-Mammary Syndrome	Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Renal hypoplasia, Decreased ferti...	ORPHA:3138
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes	ORPHA:3055
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St...	OMIM:616307
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Pulmonary artery dilatation, Neonatal respiratory distress, Hydroureter, Hypospadias, Asplenia, P...	OMIM:265380
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Kaposiform Lymphangiomatosis	Metrorrhagia, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic syst...	ORPHA:464329
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal insufficiency, Respiratory d...	ORPHA:537
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Lymphadenop...	ORPHA:507
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertension, Th...	ORPHA:824
Short Stature, Microcephaly, And Endocrine Dysfunction	Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Dilated cardiomyopa...	OMIM:616541
Fraser Syndrome	Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Small scrotum, ...	ORPHA:2052
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Classic Glucose Transporter Type 1 Deficiency Syndrome	Abnormal erythrocyte morphology, Cyanosis, Central apnea	ORPHA:71277
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Impotence, Hashimoto thyroiditis, Varicocele, Renovascular hyperten...	ORPHA:49041
Craniosynostosis, Herrmann-Opitz Type	Aplasia/Hypoplasia of the lungs, Abnormality of the urethra, Abnormality of the upper urinary tra...	ORPHA:2145
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Hypoxemia, Aspirati...	ORPHA:70588
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Joubert Syndrome 21	Apnea, Dyspnea, Renal cyst, Respiratory failure, Pulmonary hypoplasia, Hyperechogenic kidneys, Ch...	OMIM:615636
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Abnormal lung lobation, Renal cyst, Atrial septal defect, Micropeni...	OMIM:270400
Walker-Warburg Syndrome	Retinal detachment, Hypoplasia of penis, Anophthalmia, Cryptorchidism, Optic atrophy, Abnormal ci...	ORPHA:899
Rudiger Syndrome	Death in infancy, Ureterovesical stenosis, Ovarian cyst, Bicornuate uterus, Micropenis	OMIM:268650
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Renal agenesis, Absent external genitalia, Peripheral pulmonary...	OMIM:273395
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipi...	OMIM:232220
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Hypocalcemia, Autosomal Dominant 1	Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ...	OMIM:601198
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Renal phosphate wasting, Hypophospha...	OMIM:612089
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Edema, Absence of renal corticomedu...	OMIM:120330
Phakomatosis Pigmentokeratotica	Lymphedema, Precocious puberty, Cryptorchidism, Raynaud phenomenon, Renal transitional cell carci...	ORPHA:2874
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox...	ORPHA:747
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulo...	ORPHA:340
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Hypoventilation, Renal insufficiency, Recurrent urinary tract infect...	ORPHA:731
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, Hy...	OMIM:263520
Lujan-Fryns Syndrome	Macroorchidism	ORPHA:776
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Hypophosphatasia	Hypercalcemia, Anemia	ORPHA:436
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Renal artery stenosis, Recurrent...	OMIM:617913
Joubert Syndrome 6	Bile duct proliferation, Stage 5 chronic kidney disease, Nephronophthisis, Breathing dysregulation	OMIM:610688
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Meier-Gorlin Syndrome 7	Urethral stricture, Atrial septal defect, Hypospadias, Ventricular septal defect, Heart block, Cr...	OMIM:617063
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia, Polycystic kidney dysplasia, Atrial septal...	OMIM:616546
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Crackles, Mediastinal lymphadenopathy, Dyspnea, Usual interstitial...	OMIM:614742
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Coach Syndrome 1	Unilateral renal agenesis, Portal hypertension, Multiple small medullary renal cysts, Stage 5 chr...	OMIM:216360
Teebi Hypertelorism Syndrome 1	Ventricular septal defect, Hydrocele testis, Bicornuate uterus, Pulmonary hypoplasia, Shawl scrot...	OMIM:145420
H Syndrome	Histiocytosis, Hypertriglyceridemia, Abnormality of the kidney, Microcytic anemia, Hepatosplenome...	ORPHA:168569
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Nephrocalcinosis, Cholelithiasis, Chronic active hepatitis, Asplenia	OMIM:240300
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir...	OMIM:616726
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Hemoglobinuria, Pallor, Poik...	OMIM:300908
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Uterus...	ORPHA:93271
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Lacticaciduria, Methylmalonic aciduria, Respirat...	OMIM:245400
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadism, Micropenis, ...	ORPHA:3363
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma...	ORPHA:276280
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Dyspnea, Abnormality on pulmonar...	ORPHA:133
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Abnormality of the urinary system, Aplasia/Hypoplasia of the lungs	ORPHA:2204
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph...	ORPHA:1041
Nephronophthisis 1	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension,...	OMIM:256100
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Gaucher Disease, Perinatal Lethal	Respiratory distress, Hepatomegaly, Petechiae, Apnea, Thrombocytopenia, Splenomegaly, Hepatosplen...	OMIM:608013
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Hypertrophic cardiomyo...	OMIM:620326
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Anuria, Megacystis, Pyelonephritis, Bidirecti...	OMIM:619351
22Q11.2 Deletion Syndrome	Polyhydramnios, Abnormal lung lobation, Hypoplasia of the thymus, Abnormality of the uterus, Atri...	ORPHA:567
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Bilateral trilobed lung, Ureteral stenosis, Asplenia, Partial anomalous pul...	OMIM:270100
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Minimal change glomerulonephritis, Respiratory tract infection, Pulmonary...	ORPHA:567546
Trisomy 1Q	Multicystic kidney dysplasia, Anophthalmia, Small scrotum, Cryptorchidism, Congenital megaureter,...	ORPHA:261344
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Tuberous Sclerosis 2	Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Precocious pub...	OMIM:613254
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Cardiomyopathy, Ethylmalonic aciduria, Increased level of methylsuccinic ac...	ORPHA:26792
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosp...	OMIM:156400
Degcags Syndrome	Polyhydramnios, Bilateral renal hypoplasia, Atrial septal defect, Patent foramen ovale, Hypospadi...	OMIM:619488
Acro-Renal-Mandibular Syndrome	Renal hypoplasia/aplasia, Abnormal lung lobation, Uterus didelphys, Bicornuate uterus, Pulmonary ...	ORPHA:958
Neuromyelitis Optica Spectrum Disorder	Respiratory failure, Functional abnormality of the bladder	ORPHA:71211
Thoracoabdominal Syndrome	Renal agenesis, Hypospadias, Transposition of the great arteries, Pulmonary hypoplasia, Ectopia c...	OMIM:313850
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Netherton Syndrome	Recurrent respiratory infections, Ectopic kidney, Asthma, Dehydration, Aminoaciduria, Emphysema, ...	ORPHA:634
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened...	OMIM:261740
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough...	ORPHA:723
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level,...	ORPHA:29072
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Hepatomegaly, Renal insufficiency, Elevated circulating cr...	OMIM:608836
Otopalatodigital Syndrome Type 2	Hypospadias, Abnormal heart valve morphology, Ureteral obstruction, Abnormal cardiac septum morph...	ORPHA:90652
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171420
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Abnormal heart morphology, Nephrotic syndrome, Ca...	ORPHA:79327
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Hydrolethalus	Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology	ORPHA:2189
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Abnormal bleeding, Atrial septal defect, Death in infancy, Ventricular septal defect, Nephrogenic...	OMIM:208085
Cystic Echinococcosis	Multiple pulmonary cysts, Pulmonary cyst, Abnormality of the testis size, Asthma, Renal cyst, Abn...	ORPHA:400
Fanconi Anemia, Complementation Group W	Renal hypoplasia, Polysplenia	OMIM:617784
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Thyroid hypoplasia, Unilateral renal agenesis, Adrenal hypoplasia, Abnormal cardiac septum morpho...	OMIM:308050
Rheumatic Fever	Sinusitis, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, Erythema, Respiratory in...	ORPHA:3099
Ellis Van Creveld Syndrome	Hydroureter, Hypospadias, Abnormality of the kidney, Ventricular septal defect, Renal hypoplasia/...	ORPHA:289
Dyssegmental Dysplasia, Silverman-Handmaker Type	Miscarriage, Cryptorchidism, Hydrops fetalis, Respiratory insufficiency, Abnormal heart morpholog...	ORPHA:1865
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Neoplasm of th...	ORPHA:142
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:616081
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Distal Deletion 15Q	Multicystic kidney dysplasia, Decreased serum insulin-like growth factor 1, Hypospadias, Bicuspid...	ORPHA:1596
Cerebrofacioarticular Syndrome	Hypospadias, Lymphedema, Renal hypoplasia, Absence of pubertal development, Abnormal heart morpho...	ORPHA:314679
Alport Syndrome	Thickening of glomerular capillary wall, Mesangial hypercellularity, Cough, Nephritis, Tubulointe...	ORPHA:63
Tuberous Sclerosis Complex	Respiratory distress, Pancreatic endocrine tumor, Renal cyst, Pheochromocytoma, Carcinoid tumor, ...	ORPHA:805
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl...	ORPHA:29073
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence	OMIM:300717
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Polyhydramnios, Cryptorchidism, Abnormal lung lobation, Aplasia/Hyp...	ORPHA:3301
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Dyspnea, Elevated b...	OMIM:619611
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cryptorchidism, Respiratory failure, Atrial septal defect, Patent foramen ovale, Hydronephrosis	OMIM:620327
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Small scrotum, Hypospadias, Edema, Polyhydramnios, Cryptorchidism, Recurren...	OMIM:607143
Esophageal Atresia	Respiratory distress, Recurrent respiratory infections, Abnormal external genitalia, Renal agenes...	ORPHA:1199
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level,...	ORPHA:276621
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Cutis marmorata, Epistaxis, Abnormality of ...	ORPHA:33226
Solitary Median Maxillary Central Incisor	Anophthalmia, Decreased response to growth hormone stimulation test, Coloboma, Microphthalmia, Cy...	OMIM:147250
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, True hermaphr...	ORPHA:564
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Tularemia	Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Medias...	ORPHA:3392
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Macroorchidism, Male hypogonadism	OMIM:300055
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Septate vagina, Complete atrioventricular canal defect, Uterus didelphys, Pul...	OMIM:617925
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Bicuspid aortic valve, Abnormal heart morphology, Hypoxemia, Palpi...	ORPHA:2847
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Polyhydramnios, Cryptorchidism, Respiratory failure, Death in childhood, Micropenis	OMIM:619847
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Renal hypoplasia,...	OMIM:618454
Cirrhotic Cardiomyopathy	Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Pulmonary edema, Left...	ORPHA:57777
Multiple Mitochondrial Dysfunctions Syndrome 3	Beta-aminoisobutyric aciduria, Respiratory failure, Respiratory insufficiency, Polyhydramnios	OMIM:615330
Multiple Endocrine Neoplasia Type 4	Increased urinary cortisol level, Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma...	ORPHA:276152
Lethal Congenital Contracture Syndrome 2	Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy, Respiratory failure, Hy...	OMIM:607598
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration, Pseudohyp...	OMIM:603233
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach...	ORPHA:137914
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Patent foramen ovale, Renal hypoplasia, Pulmonic stenosis	OMIM:618914
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Elevated circulating alpha-fetoprotein conc...	ORPHA:457083
Biemond Syndrome Type 2	Microphthalmia, Short stature, Delayed puberty	ORPHA:141333
Diaphanospondylodysostosis	Respiratory distress, Multiple renal cysts	ORPHA:66637
Letterer-Siwe Disease	Dyspnea, Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia	OMIM:246400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Neutropenia, Pancr...	ORPHA:79312
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	OMIM:613735
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Sex reversal	ORPHA:85112
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg...	ORPHA:206484
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Elevated circulating growth hormone concentration	ORPHA:85327
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Hepatomegaly, Organic aciduria	OMIM:614741
Scimitar Syndrome	Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, ...	ORPHA:185
Birt-Hogg-Dubé Syndrome	Pneumothorax, Renal cell carcinoma, Pulmonary sequestration, Parathyroid adenoma, Emphysema, Medu...	ORPHA:122
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Trisomy 20P	Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local...	ORPHA:261318
Yellow Nail Syndrome	Recurrent respiratory infections, Renal neoplasm, Sinusitis, Biliary tract neoplasm, Dyspnea, Bro...	ORPHA:662
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, M...	ORPHA:347
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidne...	OMIM:613390
Duplication Of Urethra	Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia...	ORPHA:237
Optic Atrophy 1	Pallor	OMIM:165500
Fraser Syndrome 1	Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypoplasia, Abnormal heart morpholog...	OMIM:219000
Van Maldergem Syndrome 2	Bifid scrotum, Hypospadias, Cryptorchidism, Renal hypoplasia, Hypoplastic nipples, Tracheomalacia...	OMIM:615546
Ovarian Fibroma	Ovarian fibroma, Gonadal calcification, Pleural effusion, Ascites, Abnormality of the ovary	ORPHA:314473
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Pseudohypoparathyroidism Type 2	Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP res...	ORPHA:94090
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency	OMIM:614399
Multiple Pterygium Syndrome, Escobar Variant	Neonatal respiratory distress, Hypospadias, Cryptorchidism, Absence of labia majora, Hydrops feta...	OMIM:265000
Agnathia-Otocephaly Complex	Respiratory distress, Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis, Pulm...	OMIM:202650
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Lethal Congenital Contracture Syndrome 1	Neonatal death, Pulmonary hypoplasia	OMIM:253310
12Q14 Microdeletion Syndrome	Diabetes mellitus, Renal hypoplasia, Horseshoe kidney, Ectopic kidney	ORPHA:94063
Dworschak-Punetha Neurodevelopmental Syndrome	Vesicoureteral reflux, Unilateral renal hypoplasia	OMIM:619955
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Cranioectodermal Dysplasia 3	Stage 5 chronic kidney disease, Peripheral pulmonary artery stenosis, Nephronophthisis	OMIM:614099
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A...	ORPHA:555874
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Respiratory distress, Edema, Renal cyst, Dehydration, Aplasia/Hypoplasia of t...	ORPHA:79404
Ogden Syndrome	Bicuspid aortic valve, Apnea, Maternal diabetes, Lymphedema, Cardiomegaly, Secundum atrial septal...	OMIM:300855
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Dilatation of the renal pelvis, Interstitial emphysema, Bronchiectasis, Rectovaginal fistula, Pul...	OMIM:619708
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism	OMIM:203330
Immunodeficiency 54	Recurrent respiratory infections, Respiratory insufficiency, Adrenocorticotropic hormone excess, ...	OMIM:609981
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce...	OMIM:276700
Thanatophoric Dysplasia, Type I	Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia, Polyhydramnios	OMIM:187600
Congenital Tracheal Stenosis	Respiratory distress, Ventricular septal defect, Abnormality of the kidney, Polyhydramnios, Fetal...	ORPHA:141127
Oculoauriculovertebral Spectrum With Radial Defects	Distal urethral duplication, Renal hypoplasia/aplasia, Maternal diabetes, Aplasia/Hypoplasia of t...	ORPHA:2549
Cockayne Syndrome Type 2	Hepatomegaly, Male hypogonadism, Anophthalmia, Cryptorchidism	ORPHA:90322
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Pallor, Exertional dyspnea	ORPHA:90036
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc...	ORPHA:314478
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado...	OMIM:194072
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera...	ORPHA:322
Alagille Syndrome 1	Duplicated collecting system, Atrial septal defect, Ventricular septal defect, Multiple small med...	OMIM:118450
Mungan Syndrome	Tricuspid regurgitation, Renal hypoplasia, Perimembranous ventricular septal defect, Pulmonic ste...	OMIM:611376
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Hyper...	OMIM:613159
Butyrylcholinesterase Deficiency	Congestive heart failure, Respiratory failure, Respiratory failure requiring assisted ventilation...	ORPHA:132
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616171
Lujo Hemorrhagic Fever	Shock, Respiratory distress, Renal insufficiency, Generalized edema, Crackles, Facial edema, Atel...	ORPHA:319213
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hepatomegaly, Renal insufficiency, Thrombocytopenia, Renal tubular dysfunct...	ORPHA:289916
Alg3-Cdg	Abnormality of the endocrine system, Cardiomyopathy, Pulmonary hypoplasia	ORPHA:79321
Renal Agenesis, Bilateral	Abnormal morphology of female internal genitalia, Renal agenesis, Pulmonary hypoplasia, Oligohydr...	ORPHA:1848
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Death in infancy, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Neonatal death, Cyst...	OMIM:613730
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Anemia, 3-Methylgluta...	OMIM:246450
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Lymphadenopathy, Bone marrow hypo...	ORPHA:101096
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Cyanosis, Ketonuria, Apnea, Renal steatosis, Increased hepatic echogenicity, Hepati...	OMIM:261680
Elliptocytosis 1	Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor	OMIM:611804
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Renal agenesis, External genital hypoplasia, Adrenal hypoplasia, Crypt...	OMIM:249000
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Cyanosis, Redundant neck skin, Pulmonary ...	ORPHA:3309
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Edema, Mesangial hypercellularity, Cryptorchidism, Hypo...	OMIM:617575
Moebius Syndrome	Respiratory distress, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size	OMIM:157900
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Septate vagi...	ORPHA:2237
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, Unilateral renal agenesis, Precocious puberty, Cryptorchidism, Gonadal...	ORPHA:3306
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Fowler Urethral Sphincter Dysfunction Syndrome	Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,...	ORPHA:2795
Familial Focal Epilepsy With Variable Foci	Pallor, Flushing	ORPHA:98820
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal reproductive system morphology, Congestive heart failure, Abnormal heart morphology, Res...	ORPHA:70472
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoparathyroidism, Normocytic anemia, Premature ovarian insufficiency, Macrocytic ...	ORPHA:199299
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Acute respiratory distress syndrome, Portal hypertension, Cryptorchidism, Hypothyroidism, Wheezin...	OMIM:620005
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Aminoaciduria, Proximal tubulopathy	OMIM:612075
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h...	OMIM:615234
Congenital Myopathy 14	Death in infancy, Apnea, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Respir...	OMIM:618414
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Macroorchidism, Cardiomegaly	ORPHA:324410
Cat-Eye Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:195
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Tubulointerstitial...	ORPHA:90068
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Hyperphosphatemia, Hypocal...	OMIM:241410
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Secundum atrial septal defect, Congestive heart failure, Cardiomyo...	OMIM:616866
Xk Aprosencephaly Syndrome	Microphthalmia, Polyhydramnios	ORPHA:3469
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia	OMIM:274270
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Bronchitis, Intraventricular hemorrhage, Neonatal asphyxi...	ORPHA:420741
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Polyuria,...	OMIM:601678
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Addison Disease	Hyponatremia, Hypoparathyroidism, Normocytic anemia, Premature ovarian insufficiency, Primary tes...	ORPHA:85138
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Anophthalmia, Proteinuria, Cryptorchidism, Optic atrophy, Pigm...	ORPHA:90321
Raine Syndrome	Death in infancy, Hydroureter, Pulmonary hypoplasia, Neonatal death, Hydronephrosis	OMIM:259775
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Urinary incontinence, Congestive heart failure, Irregular me...	OMIM:616482
Syndromic Diarrhea	Aortic regurgitation, Bicuspid aortic valve, Ventricular septal defect, Renal hypoplasia, Abnorma...	ORPHA:84064
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Dyspnea, Lymphadenopathy, Pallor, Cough	ORPHA:3386
Adult Acute Respiratory Distress Syndrome	Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Diabetic ketoacidosis, Respiratory failure, Abn...	ORPHA:70578
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Biliary hyperplasia, Cryptorchidism, Perimembranous ventricular septal defe...	ORPHA:83617
Cerebrooculonasal Syndrome	Hypoplasia of penis, Anophthalmia	ORPHA:66625
Smith-Lemli-Opitz Syndrome	Atrial septal defect, Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Ventricular...	ORPHA:818
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Hepatomegaly, Increased urinary glycerol, Intermittent hyperventilation, Ep...	ORPHA:348
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Hypogonadism, Testicular seminoma	ORPHA:281090
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Microphthalmia, Isolated 5	Microphthalmia, Cystoid macular edema	OMIM:611040
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Dyspnea, Respiratory failure	ORPHA:2759
Acquired Methemoglobinemia	Respiratory distress, Cyanosis, Dyspnea, Hypoxemia, Methemoglobinemia	ORPHA:464453
Myelofibrosis	Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Transient ischemic attack, Cardiomegaly, Respiratory tract infec...	ORPHA:365
Lethal Congenital Contracture Syndrome Type 1	Pulmonary hypoplasia, Polyhydramnios	ORPHA:1486
Van Maldergem Syndrome 1	Tracheomalacia, Hypospadias, Renal hypoplasia	OMIM:601390
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Proteinuria, Thrombocytopenia, Leukocytosis, ...	ORPHA:90060
Chromosome 1Q41-Q42 Deletion Syndrome	Cryptorchidism, Ventricular septal defect, Pulmonary hypoplasia, Supernumerary nipple	OMIM:612530
Fanconi Anemia, Complementation Group B	Death in infancy, Hypergonadotropic hypogonadism, Renal agenesis, Ventricular septal defect, Abno...	OMIM:300514
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho...	ORPHA:399808
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Congestive heart failure, Dyspnea, Lacticaciduria, Cardiorespiratory arrest, A...	ORPHA:26791
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Apnea, Ventricular septal defect, Respiratory failure, Bradycardia, Hypertrophi...	OMIM:616277
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Crackles, Respiratory tract infection, Raynaud phenomenon, Dyspnea, Whe...	ORPHA:79128
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Bacterial Toxic-Shock Syndrome	Shock, Respiratory distress, Renal insufficiency, Recurrent urinary tract infections, Tachycardia...	ORPHA:36234
Schinzel-Giedion Syndrome	Respiratory distress, Streak ovary, Hypospadias, Nephroblastoma, Recurrent pneumonia, Abnormality...	ORPHA:798
Nemaline Myopathy 8	Death in infancy, Respiratory failure, Polyhydramnios	OMIM:615348
Hereditary Methemoglobinemia	Cyanosis, Methemoglobinemia, Exertional dyspnea	ORPHA:621
Vacterl With Hydrocephalus	Renal agenesis, Polyhydramnios, Renal hypoplasia/aplasia, Cryptorchidism, Pulmonary hypoplasia, A...	ORPHA:3412
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Anemia, Irregular...	ORPHA:79259
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic...	ORPHA:2250
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Cr...	OMIM:617053
49,Xxxxy Syndrome	Renal dysplasia, Recurrent respiratory infections, Hypoplasia of penis, Small scrotum, Renal hypo...	ORPHA:96264
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure, Polyhydramnios	OMIM:225753
Cofs Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1466
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Pulmonary Arteriovenous Malformation	Cyanosis, Liver abscess, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Iron deficiency anemia, P...	ORPHA:2038
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Tetrasomy 9P	Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Pericarditis, Dextrocard...	ORPHA:3310
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney	OMIM:618188
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy...	OMIM:619313
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Death in infancy, Lacticaciduria, Hyperglycinu...	OMIM:605711
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia	OMIM:614082
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Respiratory insufficiency	OMIM:601612
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Abnormali...	ORPHA:254864
Sim1-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche...	ORPHA:398079
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
48,Xxxy Syndrome	Renal dysplasia, Recurrent respiratory infections, Hypoplasia of penis, Small scrotum, Pulmonary ...	ORPHA:96263
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure, Respiratory failure, Polyhydramnios	OMIM:616794
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Short stature	OMIM:610023
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilat...	ORPHA:563
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H...	OMIM:232200
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Dextrocardia,...	OMIM:606763
Arima Syndrome	Proteinuria, Polyuria, Dyspnea, Tachypnea, Stage 5 chronic kidney disease, Hematuria, Hypertensio...	OMIM:243910
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasi...	ORPHA:2538
Multiple Endocrine Neoplasia Type 2	Cervical neoplasm, Elevated urinary catecholamine level, Hypercalcemia, Thyroid C cell hyperplasi...	ORPHA:653
Microphthalmia, Syndromic 13	Microphthalmia, Short stature	OMIM:300915
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia	ORPHA:163596
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Cryptorchidism, Pancreatic lymphangiectasis...	OMIM:235255
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Hepatoblastoma, Cardiomegaly, Cryptorchidism, Pan...	OMIM:130650
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure	OMIM:600561
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Spontaneous Periodic Hypothermia	Pallor, Abnormal pattern of respiration	ORPHA:29822
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,...	ORPHA:98913
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Recurrent respiratory infections, Ureteral duplication, Edema, Pancreatic cysts, Stage 5 chronic ...	OMIM:266920
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth, Pulmonary hypoplasia, Polyhydramnios	OMIM:151210
Boomerang Dysplasia	Decreased response to growth hormone stimulation test, Polyhydramnios, Cryptorchidism, Hydrops fe...	ORPHA:1263
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Atrial septal defect, Renal hypoplasia, Aortic valve stenosis, Hypoplastic left heart, Vesicouret...	OMIM:617660
C1Q Deficiency 2	Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory...	OMIM:620321
Monosomy 13Q34	Hepatic steatosis, Fetal pyelectasis, Metrorrhagia, Hypercalcemia	ORPHA:96168
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Recurrent respiratory infections, Abnormality of thyroid physiology, Hydron...	OMIM:300968
Joubert Syndrome 5	Central apnea, Episodic tachypnea, Impaired renal concentrating ability, Stage 5 chronic kidney d...	OMIM:610188
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Parathyroid hyperplasia, Hyperphosphatemia, Hypercalcemia	OMIM:617994
Congenital Toxoplasmosis	Microphthalmia, Ascites, Intrauterine growth retardation	ORPHA:858
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria	ORPHA:100057
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure, Renal cyst	OMIM:614862
Bardet-Biedl Syndrome 8	Hypogonadism, Hypospadias, Renal dysplasia, Situs inversus totalis	OMIM:615985
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Methemoglobinemia, Polycythemia, Exertional dyspnea	OMIM:250800
Mmep Syndrome	Microphthalmia	ORPHA:3434
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc...	OMIM:269200
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Nephrolith...	OMIM:606407
Lymphatic Malformation 12	Neonatal respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascit...	OMIM:620014
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:228300
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Anterior pituitary hypopl...	OMIM:206900
Pheochromocytoma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Pheochromocytoma, Renal artery...	OMIM:171300
Dextrocardia	Abnormal EKG, Dextrocardia, Abnormal reproductive system morphology, Situs inversus totalis, Abno...	ORPHA:1666
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Microphtha...	ORPHA:231736
Isolated Thyroid-Stimulating Hormone Deficiency	Thyroid hypoplasia, Pituitary hypothyroidism, Prolonged neonatal jaundice, Macroorchidism, Hyperc...	ORPHA:90674
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A...	OMIM:614702
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Recurrent respiratory infections, External genital hypoplasia, Hypogonadism, Micropenis, Decrease...	ORPHA:3041
Fontaine Progeroid Syndrome	Atrial septal defect, Death in infancy, Small scrotum, Absent nipple, Tricuspid regurgitation, Bi...	OMIM:612289
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Hypercalciuria, Rena...	ORPHA:369837
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Erdheim-Chester Disease	Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Abnormal pericardium morphology, Con...	ORPHA:35687
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle wea...	OMIM:220110
Congenital Fibrinogen Deficiency	Cyanosis, Splenic rupture, Micropenis, Bruising susceptibility, Subcutaneous hemorrhage	ORPHA:335
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalc...	ORPHA:36913
Intermediate Osteopetrosis	Thrombocytopenia, Hepatosplenomegaly, Hypocalcemia, Optic atrophy from cranial nerve compression,...	ORPHA:210110
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Renal insufficiency, Decreased female libido, Hypercalcemia, Ren...	ORPHA:95409
Duane-Radial Ray Syndrome	Renal malrotation, Atrial septal defect, Renal agenesis, Ventricular septal defect, Renal hypopla...	OMIM:607323
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa...	OMIM:613839
Anencephaly 2	Anophthalmia	OMIM:619452
Genitopatellar Syndrome	Multicystic kidney dysplasia, Small scrotum, Ventricular septal defect, Enlarged labia minora, Po...	OMIM:606170
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Multiple Pterygium Syndrome, X-Linked	Hypoplastic heart, Polyhydramnios, Pulmonary hypoplasia, Edema	OMIM:312150
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Pallor, Cough...	ORPHA:3260
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edem...	ORPHA:904
Anophthalmia Plus Syndrome	Anophthalmia, Iris coloboma	ORPHA:1104
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Leukocytosis, Dyspnea, Asthma, Bronchiectasi...	OMIM:620233
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Urinary incontinence, Tachypnea, Respiratory failure, Inspiratory stridor, Ventilator dependence ...	OMIM:604320
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Cryptorchidism, Hypoplastic labia minora, Micropenis, Hyp...	OMIM:224690
Fanconi Anemia, Complementation Group L	Aplasia of the uterus, Micropenis, Renal hypoplasia, Unilateral renal agenesis	OMIM:614083
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi...	ORPHA:752
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Abnormal pulmonary inters...	OMIM:617180
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
14Q22Q23 Microdeletion Syndrome	Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasi...	ORPHA:264200
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Respiratory...	OMIM:613845
Retinitis Pigmentosa	Hypoplasia of penis, Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus, Abnormal testis m...	ORPHA:791
Kagami-Ogata Syndrome	Ventricular septal defect, Polyhydramnios, Pulmonary hypoplasia, Pulmonic stenosis, Atrial septal...	OMIM:608149
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Coloboma, Hypoalbuminemia, Hypocalc...	OMIM:618183
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pancreatic islet-cell hyperplasia, Pallor	ORPHA:276608
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Hypospadias, Precocious puberty, Coloboma, Microphthalmia	OMIM:615877
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Buerger Disease	Acrocyanosis, Skin ulcer	ORPHA:36258
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Sinusitis, Cutis marmorata, Proteinuria, Eosinophilia, Recur...	ORPHA:183
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Congenital...	ORPHA:2519
2Q24 Microdeletion Syndrome	Growth delay, Microphthalmia	ORPHA:1617
Sweeney-Cox Syndrome	Asplenia	OMIM:617746
Al Amyloidosis	Nonproductive cough, Xerostomia, Abnormal salivary gland morphology, Abnormal EKG, Abnormality of...	ORPHA:85443
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress	OMIM:620011
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect, Pancreatic fibrosis, Polyhydramnios, Pulmonary hypoplasia, Ambiguous g...	OMIM:615503
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Pro...	ORPHA:505248
Absence Of The Pulmonary Artery	Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septal defect, Patent foramen ovale, Abnor...	ORPHA:980
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension, Hypospadias, Bradycardia	OMIM:619272
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Hypogonadotropic hypogonadism, Renal agenesis, Bilateral cryptorchidism, Co...	ORPHA:2326
Rauch-Steindl Syndrome	Hyperechogenic kidneys, Bilateral renal hypoplasia, Miscarriage	OMIM:619695
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Anophthalmia, Proteinuria, Cryptorchidism, Abnormality of the ...	ORPHA:2162
Succinic Acidemia	Respiratory distress	OMIM:600335
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal pericardium morphology, Abnormal ...	ORPHA:2357
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Fibrous Dysplasia Of Bone	Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormone concentration, ...	ORPHA:249
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Neonatal respiratory...	OMIM:614748
Familial Idiopathic Dilatation Of The Right Atrium	Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A...	ORPHA:1677
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97261
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:300580
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Pulmonary hypoplasia	ORPHA:3035
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Polyhydramnios	OMIM:618541
Q Fever	Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Pericardial effus...	ORPHA:781
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Respiratory insufficiency, P...	ORPHA:3346
Charge Syndrome	Decreased response to growth hormone stimulation test, External genital hypoplasia, Polyhydramnio...	OMIM:214800
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:610127
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Congeni...	ORPHA:2323
Hartsfield Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation	ORPHA:2117
Thyroid Lymphoma	Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor	ORPHA:97285
Hereditary Folate Malabsorption	Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,...	ORPHA:90045
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Frasier Syndrome	Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca...	OMIM:136680
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Recurrent respiratory infections, External genital hypoplasia, Polyhydramnios	ORPHA:329178
Multiple Pterygium Syndrome, Lethal Type	Hypoplastic heart, Polyhydramnios, Pulmonary hypoplasia, Edema	OMIM:253290
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypertensi...	ORPHA:110
Mogs-Cdg	Respiratory distress, Hypoventilation, Generalized edema, Apnea, External genital hypoplasia, Pol...	ORPHA:79330
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Death in infancy, R...	OMIM:615512
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia, Partial anomalous pulmonary venous return, Anomalous pulmonary venous return	OMIM:619657
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele	ORPHA:324416
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Pericardial effusion, Cryptorchidism, Micropenis	OMIM:614684
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decreased fertility, Hypogo...	ORPHA:2234
Restrictive Dermopathy 1	Ureteral duplication, Hypospadias, Polyhydramnios, Adrenal hypoplasia, Stillbirth, Pulmonary hypo...	OMIM:275210
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Abnormal pat...	ORPHA:31826
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97278
Cardiofacioneurodevelopmental Syndrome	Asplenia, Abdominal situs inversus	OMIM:619123
Platyspondylic Dysplasia, Torrance Type	Hydrops fetalis, Pulmonary hypoplasia, Polyhydramnios	ORPHA:85166
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Right bundle branch block, Pulmonary fibrosis, Bronchiolitis, Exertional dyspnea	ORPHA:254361
Methemoglobinemia And Ambiguous Genitalia	Cyanosis, Scrotal hypospadias, Hypospadias, Micropenis, Methemoglobinemia	OMIM:250790
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Ring Chromosome 10 Syndrome	Microphthalmia, Hypocalcemia, Renal hypoplasia/aplasia	ORPHA:1438
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Hypercalcemia, Elevated circulating growth hormone concentration, ...	OMIM:131100
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Renal neoplasm, Repeated pneumothoraces, Atelectasis, Respiratory insuffici...	ORPHA:536467
Crandall Syndrome	Hypoplasia of penis, Abnormal testis morphology, Hypogonadism	ORPHA:202
Hereditary Motor And Sensory Neuropathy, Type Iic	Urinary incontinence, Urinary urgency, Stridor, Respiratory failure, Intercostal muscle weakness	OMIM:606071
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97282
Tetraamelia Syndrome 2	Absent nipple, Ventricular septal defect, Hypoplastic pulmonary veins, Bilateral lung agenesis, M...	OMIM:618021
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Renal agenesis, Hypospadias, Bicuspid aortic valve, Truncus arteriosus, Ven...	ORPHA:508498
Williams-Beuren Syndrome	Bicuspid aortic valve, Nephrocalcinosis, Early onset of sexual maturation, Atrial septal defect, ...	OMIM:194050
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Nephropathy...	ORPHA:324
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v...	OMIM:616501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Achondroplasia	Respiratory distress, Death in infancy, Polyhydramnios, Upper airway obstruction, Pulmonary hypop...	OMIM:100800
Thymoma	Glomerulonephritis, Dyspnea, Neoplasm of the lung, Neoplasia of the pleura, Prostate neoplasm, Co...	ORPHA:99867
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Neurogenic bladder, Urinary incontinence, Pol...	ORPHA:496641
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Respiratory distress, Ectopic posterior pituitary, Ventricular septa...	ORPHA:508488
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo...	OMIM:620296
Neu-Laxova Syndrome	External genital hypoplasia, Polyhydramnios, Hypogonadism, Pulmonary hypoplasia, Ambiguous genitalia	ORPHA:2671
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia, Hepatomegaly	ORPHA:276575
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, ...	OMIM:274150
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Boutonneuse Fever	Renal insufficiency, Vasculitis, Petechiae, Respiratory failure	ORPHA:83313
Kinsship Syndrome	Death in infancy, Respiratory arrest, Renal hypoplasia, Horseshoe kidney	OMIM:619297
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97283
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Renal hypoplasia	OMIM:612918
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Atrial septal defe...	ORPHA:857
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Small scrotum, Nonimmune hydrops fetalis, Abnorma...	OMIM:617667
Coccidioidomycosis	Respiratory distress, Renal insufficiency, Abnormal sperm morphology, Pericarditis, Pneumonia, Ab...	ORPHA:228123
Verloove Vanhorick-Brubakk Syndrome	Aplasia/Hypoplasia of the lungs, Cryptorchidism, Abnormality of the parathyroid gland, Abnormal l...	ORPHA:3429
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Abdominal situs inversus, Polysplenia	OMIM:605376
Bloom Syndrome	Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Diabetes m...	ORPHA:125
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Nephropathy, Hypocalcemia	ORPHA:2238
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Hypercalcemia	OMIM:602080
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Hypoplasia of penis, Respiratory distress, Polyhydramnios	ORPHA:990
Carnitine Deficiency, Systemic Primary	Respiratory distress, Dicarboxylic aciduria, Cardiomegaly, Congestive heart failure, Dehydration,...	OMIM:212140
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly	ORPHA:276556
Coffin-Siris Syndrome 1	Recurrent respiratory infections, Hydroureter, Hypospadias, Ventricular septal defect, Ectopic ki...	OMIM:135900
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Increased proportion of exhausted T cells, Facial erythema	OMIM:618307
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:48431
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Hypotension, Cough	ORPHA:99825
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Ethylmalonic aciduria, Petechiae	OMIM:602473
Hyperekplexia 4	Respiratory failure	OMIM:618011
3-Methylglutaconic Aciduria, Type Viib	Abnormal bleeding, Respiratory distress, Polyhydramnios, Congestive heart failure, Recurrent pneu...	OMIM:616271
Orofaciodigital Syndrome Type 4	Recurrent respiratory infections, Monorchism, Renal agenesis, Renal hypoplasia/aplasia, Primary a...	ORPHA:2753
Spondylometaphyseal Dysplasia, X-Linked	Respiratory failure, Respiratory insufficiency	OMIM:313420
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Hypoplasia of the thy...	OMIM:617022
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Supravalvular aortic stenosis, Bladder diverticulum, Emphysema,...	OMIM:219100
Kcnq2-Related Epileptic Encephalopathy	Apnea, Pallor, Facial erythema	ORPHA:439218
Urban-Rogers-Meyer Syndrome	Hypogonadism, Cryptorchidism, Hypoplasia of penis, Abnormality of the ureter	ORPHA:3409
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tricuspid regurgitation, Renal hypoplasia, Renal cyst, Vesicoureteral reflu...	OMIM:618460
Pseudohypoparathyroidism, Type Ic	Pseudohypoparathyroidism, Hyperphosphatemia, Hypogonadism, Hypocalcemia, Low urinary cyclic AMP r...	OMIM:612462
Thanatophoric Dysplasia Type 2	Abnormality of the kidney, Polyhydramnios, Increased nuchal translucency, Respiratory insufficien...	ORPHA:93274
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Hereditary Amyloidosis With Primary Renal Involvement	Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti...	ORPHA:85450
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral...	OMIM:308750
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Retinitis Pigmentosa 51	Pallor, Abnormality of the kidney	OMIM:613464
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Fetal ascites, Polyhydramnios, Respiratory insuf...	OMIM:607625
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Atrial septal defect, Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops ...	OMIM:235510
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism	OMIM:309520
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Hypospadias, Cryptorchidism, Cardiomyopathy,...	OMIM:217980
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Restrictive ventilatory defect, Pal...	OMIM:600462
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Nephrolithiasis, Death in childhood, Chronic lung disease	OMIM:613848
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Aspiration, Multiple renal cysts, Respiratory dis...	OMIM:618733
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Micropenis, Hypoplasia of the ovary, Renal hypoplasia	OMIM:619321
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ...	OMIM:120200
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly	ORPHA:276580
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Recurrent respiratory infections, Abnormal mitochondrial shape, Hypospadias...	ORPHA:17
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar...	OMIM:614841
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress	OMIM:615042
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Hepatoblastoma, Vesicoureteral reflux, Nephropathy, Polycythe...	ORPHA:116
Myotonic Dystrophy 1	Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, P...	OMIM:160900
Poland Syndrome	Duplicated collecting system, Atrial septal defect, Diabetes mellitus, Hypospadias, Dextrocardia,...	ORPHA:2911
Cutis Laxa-Marfanoid Syndrome	Emphysema, Abnormal heart valve morphology	ORPHA:171719
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614837
Chromosome 2P16.1-P15 Deletion Syndrome	Cryptorchidism, Recurrent upper respiratory tract infections, Hydronephrosis, Hypogonadism, Micro...	OMIM:612513
Leprechaunism	Hepatomegaly, Enlarged ovaries, Clitoral hypertrophy, Overgrowth of external genitalia, Labial hy...	ORPHA:508
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Papilledema, Retinal calcification, Hyperphosphat...	OMIM:127000
Pauci-Immune Glomerulonephritis	Renal insufficiency, Purpura, Proteinuria, Glomerulonephritis, Microscopic hematuria, Cough, Rena...	ORPHA:93126
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	OMIM:211530
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, ...	OMIM:210710
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Pleural ef...	OMIM:620369
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Vaginal atresia	OMIM:248450
Laryngeal Abductor Paralysis	Stridor, Cyanosis	OMIM:150260
Magel2-Related Prader-Willi-Like Syndrome	Hypothalamic luteinizing hormone-releasing hormone deficiency, Recurrent respiratory infections, ...	ORPHA:398069
Dravet Syndrome	Cyanotic episode, Pallor	ORPHA:33069
Carney Complex	Hepatocellular carcinoma, Leydig cell neoplasia, Abnormal sperm motility, Ovarian serous cystaden...	ORPHA:1359
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma...	ORPHA:913
Intermediate Nemaline Myopathy	Cardiomyopathy, Respiratory failure, Polyhydramnios	ORPHA:171433
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Ketonuria, Apnea, Jaundice, Leukocytosis, Tachypnea, Lipid accu...	ORPHA:20
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Proteinuria, Vaginal neoplasm,...	ORPHA:1018
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Spondylodysplastic Ehlers-Danlos Syndrome	Agenesis of pineal gland, Abnormal heart valve morphology, Lymphedema, Cryptorchidism, Respirator...	ORPHA:536471
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Hepatomegaly, Death in infancy, Tachypnea, Respiratory insufficiency, Respi...	OMIM:614299
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Respiratory distress, Tricuspid regurgitation, Hypospadias, Epispadias...	ORPHA:2556
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Unilateral renal hypoplasia, Recurrent respiratory infections, Precocious puberty, Macroorchidism	OMIM:619950
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97280
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Abnormal heart morphology	OMIM:614100
Sarcoidosis	Abnormal nasal mucosa morphology, Heart block, Abnormal lung morphology, Ventricular tachycardia,...	ORPHA:797
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology, Myocard...	ORPHA:679
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone...	OMIM:616030
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Proteinuria, Renal Fanconi syndrome, Pancreatic islet-cell hyperplasia, Pallor, Gly...	ORPHA:263455
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Pancytopenia, Anemic pallor, Renal agenesis, Ectopic kidney, Thromb...	OMIM:227650
Congenital Disorder Of Glycosylation, Type Ie	Splenomegaly, Hepatomegaly, Respiratory distress, Telangiectasia	OMIM:608799
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis, Acrocyanosis	ORPHA:896
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Atrial septal defect, Left-to-right shunt, Ventricular septal d...	ORPHA:99050
Ear-Patella-Short Stature Syndrome	Respiratory distress, Hypoplasia of penis, Hypospadias, Cryptorchidism, Epispadias, Hypoplastic l...	ORPHA:2554
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Bardet-Biedl Syndrome 1	Diabetes mellitus, Abnormality of the kidney, Nephrogenic diabetes insipidus, Asthma, Abnormality...	OMIM:209900
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Pallor	ORPHA:324575
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Hypoplastic spleen	ORPHA:89844
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Hypogonadism, Recurrent respiratory infections, Small scrotum, Abnormality of the ureter	ORPHA:3253
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ...	OMIM:614370
Stromme Syndrome	Accessory spleen, Stillbirth, Bilateral renal hypoplasia, Hydronephrosis	OMIM:243605
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no...	OMIM:234700
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Aspiration, Respiratory insufficiency, Cardiomyopathy, Respiratory ...	ORPHA:258
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubul...	OMIM:251000
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Renpenning Syndrome 1	Hypospadias, Ventricular septal defect, Phimosis, Situs inversus totalis, Renal hypoplasia, Death...	OMIM:309500
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati...	ORPHA:99103
Rajab Interstitial Lung Disease With Brain Calcifications 1	Recurrent urinary tract infections, Small scrotum, Portal hypertension, Tachypnea, Abnormal pulmo...	OMIM:613658
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Optic atrophy, Hypocalcemia, Anemia	OMIM:259700
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Dicarboxylic aciduria, Cyanosis, Sudden episodic apnea, Oliguria, Respiratory insuf...	ORPHA:159
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Hypercalcemia	ORPHA:476126
Diffuse Cutaneous Systemic Sclerosis	Dyspareunia, Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Dyspnea, ...	ORPHA:220393
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo...	ORPHA:35858
Diaphragmatic Hernia 4, With Cardiovascular Defects	Neonatal respiratory distress, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Aortopu...	OMIM:620025
Congenital Myopathy 10B, Mild Variant	Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia	OMIM:620249
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Anemic pallor, Renal agenesis, Ectopic kidney, Thromb...	OMIM:600901
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Facial edema, Pulmonary hypoplasia, Polyhydramnios	ORPHA:86822
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Polyhydramnios	ORPHA:2547
Listeriosis	Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Congestive heart failure, Myocarditis...	ORPHA:533
Stuve-Wiedemann Syndrome 1	Death in infancy, Apnea, Pulmonary arterial medial hypertrophy, Respiratory insufficiency, Pulmon...	OMIM:601559
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,...	OMIM:618426
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali...	ORPHA:90795
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Short stature	OMIM:251270
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress	OMIM:312170
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Erythema...	OMIM:557000
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Respiratory failure	ORPHA:168486
Restrictive Dermopathy	Ureteral duplication, Hypospadias, Dextrocardia, Polyhydramnios, Aplasia/Hypoplastia of the eccri...	ORPHA:1662
Proteus Syndrome	Abnormality of retinal pigmentation, Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic...	ORPHA:744
Microcephaly-Micromelia Syndrome	Neonatal death, Pulmonary hypoplasia, Oligohydramnios	OMIM:251230
X-Linked Agammaglobulinemia	Abnormality of the tonsils, Thrombocytopenia, Abnormality of the lymphatic system, Hepatitis, Hyp...	ORPHA:47
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Presynaptic Congenital Myasthenic Syndromes	Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi...	ORPHA:98914
Congenital Myasthenic Syndrome	Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi...	ORPHA:590
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Cerebral hemorrhage, Subdural hemorrhage, Respiratory fai...	OMIM:620278
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney	OMIM:613091
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pheochromocytoma, Pitu...	ORPHA:652
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula...	OMIM:614897
Histiocytoid Cardiomyopathy	Hepatomegaly, Cyanosis, Tachypnea, Renal cyst, Pallor, Cough, Pulmonary edema	ORPHA:137675
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Subdural hemorrh...	ORPHA:90324
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Nephropathy, Renal insufficiency, Hypocalcemia	ORPHA:1563
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Edema, Pericardial effusion, Raynaud phenomenon, Dy...	ORPHA:93552
Alkuraya-Kucinskas Syndrome	Small scrotum, Edema, Pericardial effusion, Micropenis, Pleural effusion	OMIM:617822
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro...	OMIM:300751
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis	OMIM:604571
Truncus Arteriosus	Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Tachypnea, Abnormal ...	ORPHA:3384
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Pseudoaminopterin Syndrome	Asplenia, Horseshoe kidney	ORPHA:221120
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A...	ORPHA:2975
Myopathic Ehlers-Danlos Syndrome	Pallor, Poor wound healing	ORPHA:536516
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Abnormal lung lobation, Anomalo...	ORPHA:1120
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Palpebral edema, Unilateral renal agenesis, Congestive heart failure, Cardia...	OMIM:181270
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Abnormal cardiac ventricular function, Congestive heart failu...	ORPHA:90349
Double Outlet Right Ventricle	Pulmonary artery atresia, Cyanosis, Tachypnea, Aplasia/Hypoplasia of the thymus	ORPHA:3426
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation	OMIM:603194
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me...	ORPHA:86839
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Ureteral duplication, Hypoplastic tricuspid valve, Double outlet left ventr...	ORPHA:2255
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Tach...	ORPHA:45452
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Respiratory insufficiency, Res...	OMIM:609015
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Recurrent respiratory infections, Hyperthyroidism, Pneumonia, Abnormality o...	ORPHA:37042
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Aplasia/Hypoplasia of the lungs, Abnormal pleura morphology, Renal hypoplasia/aplasia	ORPHA:2570
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g...	OMIM:265300
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Abnormal p...	ORPHA:227990
Gaucher Disease Type 1	Proteinuria, Pericardial effusion, Abnormal pulmonary interstitial morphology, Pedal edema, Hemat...	ORPHA:77259
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Chand Syndrome	Atelectasis, Hydroureter, Imperforate hymen	ORPHA:1401
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Abnormal lymphatic vessel morphology, Reduced proportion of CD4+ effector me...	ORPHA:90362
Congenitally Uncorrected Transposition Of The Great Arteries	Hepatomegaly, Cyanosis, Tachypnea, Anomalous pulmonary venous return, Hypoxemia	ORPHA:860
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis	ORPHA:444013
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Bardet-Biedl Syndrome 17	Polyuria, Dextrocardia, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Hypog...	OMIM:615994
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Optic atrophy, Hypocalcemia, Anemia	ORPHA:53
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Eosinophilia, Dyspnea, Angioedema, Erythema, Hepatitis, Lymphadenopathy, Tub...	ORPHA:139402
Adams-Oliver Syndrome 5	Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Patent foramen oval...	OMIM:616028
Complete Atrioventricular Septal Defect	Hepatomegaly, Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumon...	ORPHA:1329
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Werner Syndrome	Renal neoplasm, Telangiectasia of the skin, Miscarriage, Myocardial infarction, Congestive heart ...	ORPHA:902
Achondrogenesis, Type Ia	Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Pulmonary hypoplasia	OMIM:200600
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Leukocytosis, Tachypnea, Pallor, Cough, Thrombocytosis	ORPHA:134
17Q12 Microduplication Syndrome	Microphthalmia, Polyhydramnios	ORPHA:261272
Townes-Brocks Syndrome 1	Bifid scrotum, Atrial septal defect, Renal insufficiency, Multicystic kidney dysplasia, Hypospadi...	OMIM:107480
Neu-Laxova Syndrome 1	Renal agenesis, Ventricular septal defect, Polyhydramnios, Bifid uterus, Cryptorchidism, Stillbir...	OMIM:256520
Juvenile Nephropathic Cystinosis	Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C...	ORPHA:411634
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Recurrent respiratory infections, Multicystic kidney dysplasia, Supernumera...	ORPHA:261349
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Anuria, Pneumonia, Respiratory tract infection, Pancreatitis, Leukocytosis, Dys...	ORPHA:544482
49,Xxxyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l...	ORPHA:261534
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Restrictive Dermopathy 2	Respiratory distress, Cyanosis	OMIM:619793
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Edema, Renal salt was...	OMIM:602522
Childhood Absence Epilepsy	Pallor, Urinary incontinence, Hyperventilation	ORPHA:64280
Feingold Syndrome 1	Asplenia, Annular pancreas, Polysplenia, Accessory spleen	OMIM:164280
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Cryptorchidism, Respiratory insufficiency	ORPHA:1145
Combined Oxidative Phosphorylation Deficiency 37	Respiratory insufficiency, Prolonged prothrombin time, 3-Methylglutaconic aciduria, Bile duct pro...	OMIM:618329
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Cryptorchidism, Pulmonary fibrosis, Type I diabetes mellitus, Emphysema	OMIM:620365
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Respiratory distress, Tachycardia, Ventricular septal defect, Pneumonia, E...	ORPHA:26793
Cyclic Vomiting Syndrome	Pallor	OMIM:500007
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Abnormal p...	ORPHA:227982
Tetanus	Respiratory distress, Tachycardia, Elevated urinary norepinephrine level, Tachypnea, Elevated uri...	ORPHA:3299
Achondrogenesis	Aplasia/Hypoplasia of the lungs, Hydrops fetalis, Polyhydramnios	ORPHA:932
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure, Clitoral hypertrophy	ORPHA:2707
Proboscis Lateralis	Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesis, External genital hypoplasia, Opt...	ORPHA:141099
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Dry skin, Prolonged neonatal jaundice	ORPHA:226313
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Pancytopenia, Anemic pallor, Renal agenesis, Ectopic kidney, Thromb...	OMIM:227645
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endo...	ORPHA:97214
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Hypogonadism, Decreased testicular size	ORPHA:127
Nocardiosis	Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,...	ORPHA:31204
Gitelman Syndrome	Respiratory distress, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubul...	ORPHA:358
Warburg Micro Syndrome 1	Microphthalmia, Short stature	OMIM:600118
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Death in infancy, Hypospadias, Apnea, Lacticaciduria, Concentric ...	OMIM:252010
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Cryptorchidism, Anophthalmia	ORPHA:1101
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Hepatomegaly, Microvesicular hepatic steatosis, Lacticaciduria, Stridor, Ma...	OMIM:615595
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema, Portal hypertension	OMIM:210050
Kenny-Caffey Syndrome, Type 1	Congenital hypoparathyroidism, Hypocalcemia, Anemia, Hypomagnesemia	OMIM:244460
Seckel Syndrome 2	Growth delay, Microphthalmia, Short stature	OMIM:606744
Farber Disease	Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory...	ORPHA:333
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Respiratory distress, Vaginal dryness, Respiratory failure requiring a...	ORPHA:95455
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Leukocytosis, Abnormal blood ion concentration, Oliguria, Hypo...	ORPHA:31824
Lissencephaly 8	Microphthalmia, Occipital encephalocele	OMIM:617255
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios	ORPHA:228390
Congenital Enterovirus Infection	Abnormal bleeding, Respiratory distress, Fetal ascites, Polyhydramnios, Pericardial effusion, Myo...	ORPHA:292
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ante...	OMIM:610829
Pierpont Syndrome	Microphthalmia, Short stature	OMIM:602342
Holocarboxylase Synthetase Deficiency	Respiratory distress, Organic aciduria, Tachypnea, Thrombocytopenia	ORPHA:79242
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Erythema, Lymphadenopathy, Urticaria, Acrocyanosis, Purpura	ORPHA:343
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:290
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pa...	ORPHA:300298
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Atrial septal defect, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Respiratory ...	OMIM:619383
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Recurrent respiratory infections, Cardiomegaly, Atelectasis, Tachypnea, ...	OMIM:618278
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Respiratory failure, Hydronephrosis, Polyhydramnios	ORPHA:254528
Ethylmalonic Encephalopathy	Acrocyanosis, Ethylmalonic aciduria, Petechiae	ORPHA:51188
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Hepatomegaly, Portal hypertension, Respiratory insufficiency, Hepatosplenom...	ORPHA:367
Cerebrooculofacioskeletal Syndrome 2	Growth delay, Microphthalmia, Intrauterine growth retardation	OMIM:610756
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation	OMIM:300863
Charge Syndrome	Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Optic atrophy, Horses...	ORPHA:138
Achondrogenesis Type 1B	Aplasia/Hypoplasia of the lungs, Hydrops fetalis, Polyhydramnios	ORPHA:93298
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal insufficiency, Dyspareunia, ...	ORPHA:36426
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Cough, Dyspnea, Emphysema, Enlarged lacrimal glands, Bronchiectasis, Abnorm...	OMIM:181000
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Aplasia/Hypoplasia of the lungs, Cryptorchidism, Abnormal lung lobation	ORPHA:2063
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cyanosis,...	ORPHA:99125
Relapsing Polychondritis	Abnormal endocardium morphology, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, ...	ORPHA:728
Leigh Syndrome	Ventricular septal defect, Congestive heart failure, Lacticaciduria, Methylmalonic aciduria, Gene...	ORPHA:506
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Respiratory failure, Respiratory insufficiency, Polyhydramnios	OMIM:618186
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Neutrophilia, Splenomegaly, Pulmonary fibrosis	OMIM:612852
Congenital Muscular Dystrophy, Ullrich Type	Respiratory failure	ORPHA:75840
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec...	ORPHA:90796
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Pulmonary artery stenosis, L...	ORPHA:667
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Renal insufficiency, Cyanosis, Partial anomalous pulmonary venous return, Renal...	OMIM:617478
Achondrogenesis Type 1A	Aplasia/Hypoplasia of the lungs, Hydrops fetalis, Polyhydramnios	ORPHA:93299
Hsd10 Disease, Infantile Type	Abnormal concentration of acylcarnitine in the urine, Cyanosis, Abnormality of the lower urinary ...	ORPHA:391428
Lacrimoauriculodentodigital Syndrome	Cryptorchidism, Xerostomia, Renal hypoplasia, Bicornuate uterus, Vesicoureteral reflux, Corneal n...	ORPHA:2363
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Cough	ORPHA:86812
Irida Syndrome	Intrahepatic cholestasis, Pallor	ORPHA:209981
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertension, Respiratory failure, Hyperinsulinemia	ORPHA:363400
Androgen Insensitivity, Partial	Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad...	OMIM:312300
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ...	ORPHA:1772
Central Precocious Puberty In Male	Pituitary microadenoma, Abnormality of the testis size, Precocious puberty in males	ORPHA:649929
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Abnormal heart morphology, Respiratory insufficiency due to muscle weakness...	ORPHA:1143
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Short stature, Unilateral microphthalmos	OMIM:619318
Hypocalcemic Vitamin D-Resistant Rickets	Nephrolithiasis, Hyperparathyroidism, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Greenberg Dysplasia	Nonimmune hydrops fetalis, Polyhydramnios, Increased nuchal translucency, Abnormal lung lobation,...	OMIM:215140
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Hepatomegaly, Death in infancy, Inspiratory stridor, Irregular respiration	OMIM:604377
Bardet-Biedl Syndrome 12	Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hydronephrosis	OMIM:615989
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis	ORPHA:93260
Okamoto Syndrome	Ventricular septal defect, Urinary incontinence, Bifid uterus, Abnormal left ventricle morphology...	ORPHA:2729
Interstitial Lung And Liver Disease	Hepatomegaly, Dyspnea, Intraalveolar phospholipid accumulation, Cholestasis, Respiratory insuffic...	OMIM:615486
Aicardi-Goutieres Syndrome 9	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Left ventricular hypertroph...	OMIM:619487
Microphthalmia, Syndromic 1	Hydroureter, Hypospadias, Bicuspid aortic valve, Renal hypoplasia/aplasia, Cryptorchidism, Renal ...	OMIM:309800
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Respiratory distress, Hypospadias, Hypoplastic labia majora, Hypertension, Promine...	OMIM:123790
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Pseudohypoparathyroidism Type 1B	Calcinosis, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Hype...	ORPHA:94089
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,...	ORPHA:2973
Tibial Muscular Dystrophy	Cardiomyopathy, Respiratory failure	ORPHA:609
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Asp...	ORPHA:314655
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Mild short stature, Short stature, Optic nerve hypoplasia	OMIM:614833
Atelosteogenesis Type Ii	Tracheobronchomalacia, Pulmonary hypoplasia, Polyhydramnios	ORPHA:56304
Osteogenesis Imperfecta	Aortic regurgitation, Abnormal endocardium morphology, Neonatal respiratory distress, Cerebral he...	ORPHA:666
Digeorge Syndrome	Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypothyroidism, Par...	OMIM:188400
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, ...	OMIM:609049
Müllerian Aplasia And Hyperandrogenism	Renal agenesis, Primary amenorrhea, Hypoplasia of the uterus, Abnormal vagina morphology, Abnorma...	ORPHA:247768
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Myasthenia Gravis	Hemolytic anemia, Pure red cell aplasia, Dyspnea, Hepatitis, Abnormal thymus morphology, Glycosur...	ORPHA:589
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Restrictive ventilatory defect, Respiratory failure	OMIM:606612
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Atrial septal defect, Death in infancy, Bilateral fetal pyelectasis...	OMIM:300868
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Pancytopenia, Anemic pallor, Renal agenesis, Ectopic kidney, Thromb...	OMIM:227646
Leiomyomatosis, Diffuse, With Alport Syndrome	Tracheobronchial leiomyomatosis, Renal insufficiency, Proteinuria, Glomerular basement membrane l...	OMIM:308940
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu...	OMIM:252500
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Retinal atrophy, Elevated circulating creatine kinase concentration, ...	ORPHA:2785
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Hepatomegaly, Extramedullary hematopoiesis, Pancytopenia, Splenomegaly, Leukoc...	OMIM:259720
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia	OMIM:308350
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ...	ORPHA:98915
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Small scrotum, Hypogonadism	ORPHA:2983
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulop...	ORPHA:534
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congesti...	ORPHA:3342
Meckel Syndrome, Type 4	Encephalocele, Meningocele, Anencephaly, Microphthalmia, Intrauterine growth retardation	OMIM:611134
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections, Hypogonadotropic hypogonadism, Anterior p...	ORPHA:177907
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency	OMIM:256000
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Short stature	OMIM:300887
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Hypocalcemia, Secondary hyperparathyroidism, Hypophosphatemia, Hypocal...	OMIM:264700
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia...	ORPHA:90794
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Unilateral renal agenesi...	ORPHA:500150
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, ...	ORPHA:488627
Shwachman-Diamond Syndrome 1	Nephrocalcinosis, Neonatal respiratory distress, Respiratory distress, Myocardial necrosis	OMIM:260400
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Congenital laryngeal stridor	ORPHA:2254
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcification, Hyperprostaglandinuria,...	ORPHA:73224
Thanatophoric Dysplasia Type 1	Abnormality of the kidney, Polyhydramnios, Increased nuchal translucency, Respiratory insufficien...	ORPHA:1860
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Leukocy...	ORPHA:247353
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Ventricular septal defect, Telangiectasia of the skin, Renal hypopl...	ORPHA:2092
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Small scrotum, Hypospadias, Cryptorchidism, Renal hypoplasia, Hypogonadism, Vesicoureteral reflux...	OMIM:309580
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Meier-Gorlin Syndrome 4	Cryptorchidism, Emphysema, Breast hypoplasia	OMIM:613804
Diamond-Blackfan Anemia 10	Respiratory distress, Ventricular septal defect, Renal duplication, Ectopic kidney	OMIM:613309
Rubinstein-Taybi Syndrome 1	Respiratory distress, Hypospadias, Ventricular septal defect, Premature thelarche, Polyhydramnios...	OMIM:180849
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Subdural hemorrh...	OMIM:618291
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Eosinophilia, Atelectasis, Skin ulcer, Cough, Skin vesicle, Gen...	ORPHA:2314
Arboleda-Tham Syndrome	Respiratory distress, Recurrent respiratory infections, Recurrent urinary tract infections, Neona...	OMIM:616268
Cryptococcosis	Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effus...	ORPHA:1546
Costello Syndrome	Renal insufficiency, Ventricular septal defect, Polyhydramnios, Tracheomalacia, Pneumothorax, Res...	OMIM:218040
Congenital Disorder Of Glycosylation, Type Ia	Death in infancy, Pericarditis, Premature ovarian insufficiency, Proteinuria, Hypergonadotropic h...	OMIM:212065
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Reti...	ORPHA:500095
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Thrombocytopenia, Splenomegaly, Erythema, Prolonged neonatal jaundice, Acrocyanosis...	OMIM:225750
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Adnp Syndrome	Respiratory distress, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, R...	ORPHA:404448
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Recurrent respiratory infections, Recurrent pneumonia, Pollak...	ORPHA:647
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Bilateral microphthalmos, Retinal calcification, Anemia, Hyperphosphatemia, Hypocalc...	ORPHA:93325
Kasabach-Merritt Syndrome	Respiratory distress, Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, An...	ORPHA:2330
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Ventricular septal defect, External genital hypoplasia, Polyhydramnios, Miscarriage, Cryptorchidi...	ORPHA:96334
Fetal Akinesia Deformation Sequence 1	Nonimmune hydrops fetalis, Polyhydramnios, Cryptorchidism, Increased nuchal translucency, Stillbi...	OMIM:208150
Metatropic Dysplasia	Aplasia/Hypoplasia of the lungs	ORPHA:2635
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia, Short stature, Edema	ORPHA:2505
Geleophysic Dysplasia 3	Pneumonia, Polyhydramnios, Dyspnea, Mitral regurgitation, Respiratory failure	OMIM:617809
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Cholestasis, Pigmentary retinopathy, Hypocalcemia, Left ventricular hypertrop...	ORPHA:746
Wolfram Syndrome	Gastrointestinal hemorrhage, Central apnea, Recurrent urinary tract infections, Diabetes mellitus...	ORPHA:3463
Peters-Plus Syndrome	Ureteral duplication, Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Polyhydramnios...	OMIM:261540
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Pallor, Poikilo...	ORPHA:98870
Poems Syndrome	Diabetes mellitus, Edema, Pericardial effusion, Abnormality of the endocrine system, Respiratory ...	ORPHA:2905
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Rhizomelia	ORPHA:93267
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Baraitser-Winter Syndrome 2	Microphthalmia, Short stature	OMIM:614583
Common Variable Immunodeficiency	Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen...	ORPHA:1572
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy, Pulmonary fibrosis	OMIM:618165
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Microphthalmia, Syndromic 6	Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Renal hypoplasia, Anterio...	OMIM:607932
Neuroleptic Malignant Syndrome	Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen...	ORPHA:94093
Monosomy 18P	Microphthalmia, Short stature, Lymphedema	ORPHA:1598
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Episodic hypertension, Apnea, Central hypoventilation	OMIM:619483
Acquired Purpura Fulminans	Acrocyanosis, Pyoderma gangrenosum, Thrombocytopenia, Macular purpura	ORPHA:49566
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Nasal polyposis, Abnormality of the ureter, Ovarian cyst, Intestinal bl...	OMIM:175200
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Respiratory distress, Adrenal hyperplasia, Pol...	ORPHA:79500
Familial Dysautonomia	Abnormal peritoneum morphology, Recurrent respiratory infections, Renal insufficiency, Glomerulop...	ORPHA:1764
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Glomerular sclerosis,...	OMIM:223900
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr...	ORPHA:555877
Focal Dermal Hypoplasia	Ureteral duplication, Anophthalmia, Supernumerary nipple, Cryptorchidism, Optic atrophy, Horsesho...	OMIM:305600
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia	OMIM:175500
Cerebrooculonasal Syndrome	Iris coloboma, Anophthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia	OMIM:605627
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Autosomal Dominant Hypocalcemia	Optic atrophy, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia,...	ORPHA:428
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation	ORPHA:163966
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Dyspnea, Bronchiectasi...	OMIM:123700
Ovarian Hyperstimulation Syndrome	Generalized edema, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating g...	ORPHA:64739
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Recurrent urinary tract infections, Renal hypoplasia, Polyhydramnios, Pseudohypoparathyroidism	OMIM:617157
Zygomycosis	Gastrointestinal hemorrhage, Renal insufficiency, Pericarditis, Diabetes mellitus, Epistaxis, Sin...	ORPHA:73263
Pallister-Killian Syndrome	Small scrotum, Hypospadias, Edema of the dorsum of feet, Supernumerary nipple, Polyhydramnios, Ve...	OMIM:601803
Muscular Dystrophy, Congenital, With Or Without Seizures	Type I diabetes mellitus, Respiratory failure, Respiratory distress	OMIM:620166
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Polyhydramnios, Hydrometrocolpos, Horseshoe kidney, Atrioventricular canal ...	OMIM:617088
Tay-Sachs Disease	Aspiration, Pallor	OMIM:272800
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Polysplenia, Pulm...	OMIM:616749
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Renal hypoplasia, Reticulocytopenia, Persistenc...	OMIM:105650
Drug-Induced Lupus Erythematosus	Pericardial effusion, Pericarditis, Prolonged QTc interval, Petechiae	ORPHA:231111
Prader-Willi Syndrome	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:739
Hypoplasminogenemia	Cervicitis, Abnormality of the ovary, Nephrolithiasis, Abnormal fallopian tube morphology	ORPHA:722
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Pulmonar...	OMIM:187300
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure	OMIM:613954
Gaucher Disease Type 3	Recurrent respiratory infections, Mitral valve calcification, Proteinuria, Abnormal heart valve m...	ORPHA:77261
Microphthalmia, Syndromic 2	Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Hypospadias, Septate v...	OMIM:300166
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria, Hypogonadism, Hypoplastic nipples, Arrhythmia	OMIM:273400
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptorchidism, D...	ORPHA:2636
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Increased urine succinate level, Bilateral fetal pyelectasis...	OMIM:606812
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Hypopnea, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Respir...	OMIM:617248
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Methylmalonic acid...	OMIM:251110
Fibular Hemimelia	Anophthalmia, Renal dysplasia, Thrombocytopenia	ORPHA:93323
Alström Syndrome	Respiratory distress, Urinary incontinence, Decreased response to growth hormone stimulation test...	ORPHA:64
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster...	OMIM:158330
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79444
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate short-trunk short...	ORPHA:85194
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Metatropic Dysplasia	Respiratory failure, Respiratory insufficiency	OMIM:156530
Oculopalatocerebral Syndrome	Microphthalmia, Short stature	OMIM:257910
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia	ORPHA:1867
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Leptospirosis	Respiratory distress, Pericarditis, First degree atrioventricular block, Cellular urinary casts, ...	ORPHA:509
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Respiratory distress, Bicuspid aortic ...	ORPHA:363705
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Thrombocytopenia, Hypocalcemia, Hyperbilirubinem...	ORPHA:163979
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto...	OMIM:615873
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Cholera	Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo...	ORPHA:173
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Hypocalcemia, Hydronephrosis	OMIM:300712
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Polyhydramnios, Tubular luminal dilatation, Renal...	OMIM:219730
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract...	ORPHA:51636
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Hypoventilation, Respiratory insufficiency due to muscle weakness, Congestive heart...	OMIM:310200
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta, Short stature	OMIM:169550
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Short stature	ORPHA:2788
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Chiari Malformation Type Ii	Cyanosis, Inspiratory stridor	OMIM:207950
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ac...	OMIM:251100
Pmm2-Cdg	Respiratory distress, Lymphedema, Elevated circulating thyroid-stimulating hormone concentration,...	ORPHA:79318
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,...	ORPHA:821
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Lymphatic Malformation 6	Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Per...	OMIM:616843
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch...	ORPHA:64744
Hennekam Syndrome	Recurrent respiratory infections, Ectopic kidney, Lymphedema, Pericardial effusion, Pulmonary lym...	ORPHA:2136
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Dehydration	OMIM:214150
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Hepatomegaly	ORPHA:927
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Pulmonary artery sling, Asplenia...	ORPHA:261537
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis...	OMIM:242700
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Dermatomyositis	Recurrent respiratory infections, Abnormal eosinophil morphology, Telangiectasia of the skin, Ery...	ORPHA:221
Mgat2-Cdg	Abnormal bleeding, Respiratory distress, Ventricular septal defect, Abnormality of the endocrine ...	ORPHA:79329
Lethal Congenital Contracture Syndrome 9	Cardiorespiratory arrest, Pulmonary hypoplasia, Polyhydramnios	OMIM:616503
Steinert Myotonic Dystrophy	Prolonged QRS complex, Decreased response to growth hormone stimulation test, Polyhydramnios, Non...	ORPHA:273
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevat...	OMIM:619991
Orofaciodigital Syndrome Xiv	Ventricular septal defect, Epispadias, Cryptorchidism, Unilateral renal hypoplasia, Atrial septal...	OMIM:615948
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypocalcemia, Secondary hyperparathyroidism, Hypophosphatemia, Hypocal...	ORPHA:289157
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Dilatation of the vent...	ORPHA:90348
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Optic atrophy, Retinal dys...	ORPHA:2526
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Aspartylglucosaminuria	Splenomegaly, Hepatomegaly, Aspartylglucosaminuria, Macroorchidism	ORPHA:93
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation	OMIM:603689
Familial Adenomatous Polyposis 4	Ovarian cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst	OMIM:617100
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect, Respiratory failure	OMIM:618804
Rodrigues Blindness	Microphthalmia, Short stature	OMIM:268320
Timothy Syndrome	Hypocalcemia, Cardiomegaly	OMIM:601005
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
49,Xyyyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l...	ORPHA:99330
Meier-Gorlin Syndrome 6	Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Cryptorc...	OMIM:616835
Blomstrand Lethal Chondrodysplasia	Hydrops fetalis, Pulmonary hypoplasia, Polyhydramnios	ORPHA:50945
Eosinophilic Fasciitis	Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure	OMIM:616505
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular edema, Lymphedema	ORPHA:891
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, 4-hydroxyphenylacetic aciduria, Microvesicular hepatic st...	OMIM:617156
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Pericar...	ORPHA:99827
Adams-Oliver Syndrome 2	Microphthalmia, Oligohydramnios	OMIM:614219
Holzgreve Syndrome	Aplasia/Hypoplasia of the lungs, Oligohydramnios, Renal hypoplasia/aplasia	ORPHA:2167
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Glomerulopathy, Renal insufficiency, Ketonuria, Pulmonary embolism, Hemolyt...	ORPHA:79282
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Plummer-Vinson Syndrome	Iron deficiency anemia, Pallor, Hypochromic microcytic anemia	ORPHA:54028
8P11.2 Deletion Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Mitral valve prolapse, Azoosp...	ORPHA:251066
Diamond-Blackfan Anemia	Acute myeloid leukemia, Hypospadias, Renal agenesis, Pure red cell aplasia, Erythroid hypoplasia,...	ORPHA:124
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Pulmonary artery sling, Asplenia...	ORPHA:261552
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Pulmonary artery sling, Abnormal...	ORPHA:2152
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Polyhydramnios, Hypercapnia, Respiratory insufficiency due to m...	ORPHA:2020
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Recurrent respiratory infections, Small scrotum, Diabetes mellitus, External genital hypoplasia, ...	OMIM:614231
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Short stature	ORPHA:3191
Microlissencephaly-Micromelia Syndrome	Hypoparathyroidism, Respiratory distress, Palpebral edema, Polyhydramnios, Fetal pyelectasis, Abn...	ORPHA:50810
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Edema of the dorsum of feet, Edema of the dorsum of hands	ORPHA:544503
Branchiooculofacial Syndrome	Anophthalmia, Hypospadias, Renal agenesis, Supernumerary nipple, Cryptorchidism, Renal cyst, Reti...	OMIM:113620
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Cryptorchidism, Elevated circulating thyroid-stimulating hormone conce...	OMIM:101800
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Supernumerary nipple, Splenomegaly, Cryptorchidism, Renal cyst, Duplic...	OMIM:312870
Microphthalmia With Limb Anomalies	Cryptorchidism, Optic atrophy, Horseshoe kidney, Microphthalmia, True anophthalmia	ORPHA:1106
Japanese Encephalitis	Respiratory distress, Irregular respiration, Respiratory paralysis, Inappropriate antidiuretic ho...	ORPHA:79139
Wolf-Hirschhorn Syndrome	Recurrent respiratory infections, Hypospadias, Abnormality of the kidney, Abnormal heart valve mo...	ORPHA:280
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Recurrent respiratory infections, Heparan sulfate excretion in urine, 3-Met...	OMIM:615273
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia	OMIM:616959
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys	OMIM:620047
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Aortic Arch Interruption	Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop...	ORPHA:2299
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper...	OMIM:618775
Culler-Jones Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Hypogonad...	OMIM:615849
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, Acrocyanosis, Vascular skin ...	ORPHA:349
Neonatal Marfan Syndrome	Neonatal respiratory distress, Tricuspid regurgitation, Abnormal cardiac ventricle morphology, He...	ORPHA:284979
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Pallor, Aspiration, Flushing	ORPHA:2131
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Recurrent lower respiratory tract in...	OMIM:619632
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Adenohypophysitis	Normochromic anemia, Hyposthenuria, Pallor	ORPHA:95512
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea	OMIM:619580
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Respiratory distress, Cryptorchidism, Hypertension, Prominent scrotal raphe	ORPHA:1555
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	ORPHA:494344
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Oncogenic Osteomalacia	Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Xerostomia, Abnormal respiratory system physiology	ORPHA:803
Aspartylglucosaminuria	Hepatomegaly, Aspartylglucosaminuria, Vacuolated lymphocytes, Neutropenia, Macroorchidism	OMIM:208400
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79443
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure	OMIM:610678
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Heart And Brain Malformation Syndrome	Growth delay, Microphthalmia, Polyhydramnios	OMIM:616920
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Fetal Alcohol Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1915
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Joubert Syndrome 37	Microphthalmia, Short stature	OMIM:619185
Panhypophysitis	Normochromic anemia, Hyposthenuria, Pallor	ORPHA:95513
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H...	ORPHA:3109
Osteoglophonic Dysplasia	Respiratory distress, Cryptorchidism, Chordee, Hypospadias	OMIM:166250
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Hepatic arteriovenous malformation, Spontaneous, recurrent epistaxis...	OMIM:600376
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism, Hyperphosphatemia, Hypogonadism, Low urinary cyclic AMP response to PTH...	OMIM:103580
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616395
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular...	ORPHA:70591
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Chronic Graft Versus Host Disease	Phimosis, Urinary bladder inflammation, Dyspnea, Pneumothorax, Xerostomia, Bronchiectasis, Wheezi...	ORPHA:99921
Generalized Arterial Calcification Of Infancy	Respiratory distress, Adrenal calcification, Edema, Polyhydramnios, Cardiomegaly, Hydrops fetalis...	ORPHA:51608
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Patent urachus, Death in childhood	OMIM:618252
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Ventricular septal defect, Ectopic kidney, Pulmonar...	OMIM:164210
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Bradypnea, Respiratory failure, Cerebral edema, Death in childhood	OMIM:617186
Primary Hyperoxaluria	Hyperoxaluria, Cutis marmorata, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease...	ORPHA:416
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht...	OMIM:153400
Otopalatodigital Syndrome, Type Ii	Hypospadias, Cryptorchidism, Respiratory insufficiency, Respiratory failure, Stillbirth, Atrial s...	OMIM:304120
Loeys-Dietz Syndrome 4	Bicuspid aortic valve, Pneumothorax, Mitral valve prolapse, Emphysema, Bruising susceptibility	OMIM:614816
Dpagt1-Cdg	Intracranial hemorrhage, Anasarca, Prolonged QT interval, Pulmonary hypoplasia	ORPHA:86309
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre...	ORPHA:3464
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis	OMIM:614407
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Iron deficiency anemia, Infertility, Hypocalcemia, Thrombocytosis	OMIM:212750
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Hepatomegaly, Hepatocellular carcinoma, Microvesicular hepatic steatosis, J...	OMIM:256810
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Pulmonary carcinoi...	ORPHA:363618
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Macrocytic anemia, Granulocytopenia	OMIM:606164
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Atelectasis, Lymph...	OMIM:306400
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Infantile Krabbe Disease	Abnormal heart rate variability, Respiratory failure, Respiratory distress	ORPHA:206436
Postinfectious Vasculitis	Viral hepatitis, Palpable purpura, Cutis marmorata, Membranoproliferative glomerulonephritis, Pro...	ORPHA:48435
Baraitser-Winter Syndrome 1	Postnatal growth retardation, Microphthalmia, Short stature	OMIM:243310
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
De Barsy Syndrome	Recurrent sinopulmonary infections, Emphysema, Ventricular septal defect, Cryptorchidism	ORPHA:2962
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	ORPHA:2728
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Cyst of the ductus choledochus, Abnormal circulating thyroid hormone concen...	ORPHA:480880
Sheehan Syndrome	Normochromic anemia, Hyposthenuria, Pallor, Dry skin	ORPHA:91355
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Hepatomegaly, Abnormality of the pancreas, Mucopolysaccharid...	ORPHA:175
Fanconi Anemia, Complementation Group S	Microphthalmia, Short stature	OMIM:617883
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Prolonged prothrombin time, Hydrops fetalis, Respiratory failure	ORPHA:88618
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia, Short stature	ORPHA:1791
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis	ORPHA:3304
Mitochondrial Dna-Associated Leigh Syndrome	Multiple glomerular cysts, Apnea, Cardiac conduction abnormality, Hyperventilation, Dyspnea, Dila...	ORPHA:255210
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, Atrial septal defect, H...	ORPHA:99413
Mosaic Monosomy X	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, Atrial septal defect, H...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, Atrial septal defect, H...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, Atrial septal defect, H...	ORPHA:881
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Galloway-Mowat Syndrome 3	Short stature, Edema, Oligohydramnios, Microphthalmia, Intrauterine growth retardation	OMIM:617729
Fanconi Anemia	Abnormality of the uterus, Atrial septal defect, Abnormality of the hypothalamus-pituitary axis, ...	ORPHA:84
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia	ORPHA:370959
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Cutis marmorata, Calcium oxalate nephrolithiasis, Nephrocalci...	OMIM:259900
Myhre Syndrome	Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Epispadi...	ORPHA:2588
Biotinidase Deficiency	Respiratory distress, Organic aciduria, Apnea, Hyperventilation	ORPHA:79241
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir...	OMIM:614643
Niemann-Pick Disease Type C	Fetal ascites, Abnormal lung morphology, Hydrops fetalis, Respiratory insufficiency, Respiratory ...	ORPHA:646
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Atypical Werner Syndrome	Fasting hyperinsulinemia, Abnormality of the pulmonary artery, Renal neoplasm, Premature ovarian ...	ORPHA:79474
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Polyhydramnios, Edema, Postnatal growth retardation, Microphthalmia	OMIM:302960
Warburg Micro Syndrome 4	Severe postnatal growth retardation, Microphthalmia, Short stature	OMIM:615663
Noonan Syndrome 1	Abnormal bleeding, Male infertility, Hypospadias, Ventricular septal defect, Lymphedema, Cryptorc...	OMIM:163950
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Hypocalcemia	OMIM:618476
Velocardiofacial Syndrome	Hypoparathyroidism, Cryptorchidism, Hypocalcemia	OMIM:192430
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Fanconi Anemia, Complementation Group R	Growth delay, Microphthalmia	OMIM:617244
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency	OMIM:617239
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Dilatation of renal calices, Asthma, Pelvic kidney, Nasal flaring	ORPHA:466943
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Zttk Syndrome	Aortic regurgitation, Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Po...	OMIM:617140
Inhalational Anthrax	Respiratory distress, Abnormal sweat gland morphology, Dyspnea, Hypotension, Internal hemorrhage	ORPHA:247257
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia, Intrauterine growth retardation, Oligohydramnios	OMIM:613451
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Dyspnea, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Respir...	OMIM:610505
Aicardi-Goutieres Syndrome 7	Pneumonia, Edema, Pericardial effusion, Hematemesis, Vasculitis, Hematochezia, Nephrotic syndrome...	OMIM:615846
Micro Syndrome	Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty	ORPHA:2510
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Double Outlet Left Ventricle	Pulmonary artery stenosis, Cyanosis, Tachypnea	ORPHA:3427
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:1352
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Atrial septal defect, Right atrial enlargement	OMIM:615219
Joubert Syndrome 14	Encephalocele, Microphthalmia, Meningocele, Growth delay	OMIM:614424
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia, Short stature	OMIM:617306
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation	ORPHA:268943
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ...	OMIM:610655
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Umbilical hernia, Bilateral microphthalmos, Short stature	ORPHA:369891
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Dysplastic tricuspid...	OMIM:612863
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Severe postnatal growth retardation	ORPHA:2399
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Emphysema, Subretinal pigment epithelium hemorrhage	ORPHA:357074
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor	ORPHA:100050
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Bilateral microphthalmos, Short stature	OMIM:610758
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Recurrent upper respiratory tract inf...	ORPHA:293987
Incontinentia Pigmenti	Leukocytosis, Erythema, Eosinophilia, Pallor	OMIM:308300
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Cryptorchidism, Respiratory insufficiency, Hyper...	OMIM:139210
Temtamy Syndrome	Microphthalmia	OMIM:218340
Johanson-Blizzard Syndrome	Hepatomegaly, Hypospadias, Increased VLDL cholesterol concentration, Urethrovaginal fistula, Conj...	OMIM:243800
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Pituitary Apoplexy	Normochromic anemia, Pallor	ORPHA:95613
Cardiac Valvular Dysplasia 2	Central cyanosis, Pulmonary artery dilatation	OMIM:620067
Poliomyelitis	Respiratory failure requiring assisted ventilation, Hypertension, Hypovolemic shock, Respiratory ...	ORPHA:2912
Cardiac Valvular Dysplasia 1	Cyanosis, Hydroureter, Urethral diverticulum, Pulmonary artery atresia, Hydronephrosis	OMIM:212093
Glycine Encephalopathy With Normal Serum Glycine	Respiratory failure, Apnea	OMIM:617301
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Flexion contracture, Right bundle branch block, Hypertension, Mitral reg...	OMIM:614008
Kniest Dysplasia	Respiratory distress, Tracheomalacia	OMIM:156550
Acromelic Frontonasal Dysostosis	Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Cranioectodermal Dysplasia 1	Hepatomegaly, Malformation of the hepatic ductal plate, Renal magnesium wasting, Chronic kidney d...	OMIM:218330
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Adams-Oliver Syndrome	Encephalocele, Microphthalmia, Ascites	ORPHA:974
Warburg Micro Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:614222
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Remnants of the hyaloid vascular system, Buphthalmos, Retinal nonattachment, Microphthalmia, Iris...	OMIM:221900
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Unilateral renal agenesis, Secundum atrial septal defect, Recurrent pneumon...	ORPHA:99646
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Short stature	ORPHA:1806
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Ritscher-Schinzel Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:619135
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Microphthalmia	OMIM:234050
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni...	OMIM:201750
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Atelis Syndrome 2	Microphthalmia, Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia	OMIM:620185
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Respiratory f...	ORPHA:158687
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Kapur-Toriello Syndrome	Microphthalmia, Intrauterine growth retardation	OMIM:244300
Galloway-Mowat Syndrome 1	Short stature, Oligohydramnios, Hypoplasia of the iris, Microphthalmia, Intrauterine growth retar...	OMIM:251300
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Trisomy 18	Short stature, Spina bifida, Anencephaly, Growth delay, Microphthalmia, Intrauterine growth retar...	ORPHA:3380
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
X-Linked Dominant Chondrodysplasia Punctata	Severe postnatal growth retardation, Microphthalmia, Short stature	ORPHA:35173
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure	ORPHA:1861
Frontorhiny	Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele	ORPHA:391474
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Intrauterine growth retardation, Oligohydramnios	ORPHA:364577
Keutel Syndrome	Sinusitis, Ventricular septal defect, Recurrent bronchitis, Miscarriage, Hypertension, Pulmonary ...	OMIM:245150
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Short stature	OMIM:618571
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:2714
Plague	Respiratory distress, Hepatomegaly, Splenomegaly, Lymphadenitis, Skin ulcer, Enlarged mesenteric ...	ORPHA:707
Prolactinoma	Pallor	ORPHA:2965
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Mosaic Variegated Aneuploidy Syndrome	Short stature, Polyhydramnios, Increased nuchal translucency, Growth delay, Microphthalmia, Ascit...	ORPHA:1052
Aicardi-Goutières Syndrome	Cutis marmorata, Neonatal alloimmune thrombocytopenia, Dry skin, Hepatosplenomegaly, Chronic lymp...	ORPHA:51
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy...	ORPHA:466650
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hemolytic anemia, Decreased response to growth hormone stimulation test, Unilateral renal agenesi...	OMIM:619503
Warburg Micro Syndrome 2	Postnatal growth retardation, Microphthalmia	OMIM:614225
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Respiratory failure	ORPHA:3240
Pitt-Hopkins Syndrome	Micropenis, Acrocyanosis, Abnormal pattern of respiration, Hyperventilation	ORPHA:2896
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Abetalipoproteinemia	Abnormal bleeding, Cardiomegaly, Congestive heart failure, Prolonged prothrombin time, Respirator...	ORPHA:14
Refsum Disease	Microphthalmia	ORPHA:773
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Dry skin	OMIM:305100
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Cohen Syndrome	Microphthalmia, Intrauterine growth retardation, Short stature, Delayed puberty	ORPHA:193
Pelvis-Shoulder Dysplasia	Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Bilateral microphthalmos, Neon...	ORPHA:2839
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Viss Syndrome	Atrial septal defect, Epidural hemorrhage, Ventricular septal defect, Coronary sinus enlargement,...	OMIM:619472
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect, Respiratory distress	OMIM:610536
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor, Anemia	ORPHA:329971
Isotretinoin-Like Syndrome	Lymphopenia, Hypocalcemia	ORPHA:2306
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Restrictive ventilatory defect	OMIM:183900
Martsolf Syndrome 1	Microphthalmia, Short stature	OMIM:212720
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Short stature	OMIM:610651
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia, Short stature	OMIM:257850
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Microphthalmia, Umbilical hernia, Polyhydramnios	ORPHA:2166
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
1Q21.1 Microdeletion Syndrome	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:250989
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Short stature	OMIM:601675
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Cryp...	ORPHA:649
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Microphthalmia, Lenz Type	Microphthalmia, Short stature	ORPHA:568
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Lack of skin elasticity,...	ORPHA:740
Chromosome 8Q21.11 Deletion Syndrome	Growth delay, Microphthalmia	OMIM:614230
Cutis Laxa, Autosomal Recessive, Type Ib	Emphysema, Bradycardia, Pulmonary artery aneurysm, Pulmonary artery dilatation, Pulmonary insuffi...	OMIM:614437
Wrinkly Skin Syndrome	Recurrent sinopulmonary infections, Emphysema, Atrial septal dilatation, Cryptorchidism	ORPHA:2834
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia	OMIM:253800
Mycophenolate Mofetil Embryopathy	Microphthalmia, Hydrops fetalis	ORPHA:268249
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Cat Eye Syndrome	Microphthalmia, Umbilical hernia, Short stature	OMIM:115470
Dubowitz Syndrome	Short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intrauterine...	OMIM:223370
Curry-Jones Syndrome	Occipital meningocele, Microphthalmia, Lipomyelomeningocele	OMIM:601707
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Optic nerve hypoplasia, Small scrotum, Hypocalcemia, Hydronephrosis	OMIM:620330
Marfan Syndrome	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, E...	OMIM:154700
Cousin Syndrome	Hydranencephaly, Microphthalmia, Disproportionate short stature, Rhizomelia	OMIM:260660
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia	OMIM:236670
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia	OMIM:601812
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Severe short stature, Rhizomelia	ORPHA:85167
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Ramos-Arroyo Syndrome	Atrial septal defect, Xerostomia, Respiratory distress	ORPHA:1051
Incontinentia Pigmenti	Microphthalmia, Spina bifida occulta, Umbilical hernia, Short stature	ORPHA:464
Marfan Syndrome	Mitral valve calcification, Spontaneous pneumothorax, Congestive heart failure, Emphysema, Mitral...	ORPHA:558
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia, Intrauterine growth retardation	OMIM:147791
Hallermann-Streiff Syndrome	Microphthalmia, Proportionate short stature, Spina bifida	OMIM:234100
Momo Syndrome	Bilateral microphthalmos, Short stature	ORPHA:2563
Roberts Syndrome	Postnatal growth retardation, Microphthalmia, Severe intrauterine growth retardation, Polyhydramnios	ORPHA:3103
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
2Q31.1 Microdeletion Syndrome	Microphthalmia, Short stature	ORPHA:251014
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia	ORPHA:77301
Linear Nevus Sebaceus Syndrome	Growth delay, Microphthalmia	ORPHA:2612
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Classical Ehlers-Danlos Syndrome	Striae distensae, Prematurely aged appearance, Poor wound healing, Bladder diverticulum, Ecchymos...	ORPHA:287
Teebi-Shaltout Syndrome	Microphthalmia, Short stature	OMIM:272950
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Short stature	OMIM:201180
Monosomy 13Q14	Microphthalmia, Short stature, Intrauterine growth retardation	ORPHA:1587
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c...	OMIM:157170
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Intrauterine growth retardation, Oligohydramnios	OMIM:608670
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Short stature, Polyhydramnios, Microphthalmia, Intrauterine growth retardation	OMIM:620186
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Cockayne Syndrome B	Severe short stature, Postnatal growth retardation, Hypoplasia of the iris, Microphthalmia, Intra...	OMIM:133540
Acro-Renal-Ocular Syndrome	Postnatal growth retardation, Microphthalmia, Optic disc hypoplasia	ORPHA:959
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616975
Basal Cell Nevus Syndrome 1	Microphthalmia, Spina bifida	OMIM:109400
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Renal phosphate wastin...	ORPHA:289176
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea, Asthma, Ectopic thyroid, Hypothyroidism, Oligohydramnios	ORPHA:3206
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,...	ORPHA:391665
Trichothiodystrophy	Umbilical hernia, Bilateral microphthalmos, Intrauterine growth retardation	ORPHA:33364
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Yunis-Varon Syndrome	Short stature, Polyhydramnios, Postnatal growth retardation, Increased nuchal translucency, Bilat...	ORPHA:3472
Treacher-Collins Syndrome	Encephalocele, Microphthalmia, Branchial fistula	ORPHA:861
Bartsocas-Papas Syndrome 1	Microphthalmia, Intrauterine growth retardation	OMIM:263650
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Short stature	OMIM:268400
Aicardi Syndrome	Postnatal growth retardation, Microphthalmia, Spina bifida	OMIM:304050
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Hallermann-Streiff Syndrome	Microphthalmia, Proportionate short stature	ORPHA:2108
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Short stature	OMIM:309801
Chromosome 13Q14 Deletion Syndrome	Growth delay, Microphthalmia, Umbilical hernia	OMIM:613884
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi, Short stature	OMIM:259770
Hydrolethalus Syndrome 1	Microphthalmia, Anencephaly, Polyhydramnios, Intrauterine growth retardation	OMIM:236680
Aicardi Syndrome	Microphthalmia, Delayed puberty	ORPHA:50
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Intrauterine growth retardation, Severe short stature, Bilateral microphthalmos, Optic nerve hypo...	ORPHA:468631
Holoprosencephaly 7	Occipital meningocele, Microphthalmia, Bilateral microphthalmos	OMIM:610828
Mend Syndrome	Microphthalmia, Short stature	ORPHA:401973
Neuroocular Syndrome	Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Lens coloboma, Microphthalmia, ...	OMIM:619539
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Congenitally Corrected Transposition Of The Great Arteries	Pulmonary artery atresia, Cyanosis	ORPHA:216694
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Short stature	OMIM:616734
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Coffin-Lowry Syndrome	Acrocyanosis, Cutis marmorata, Cutis laxa	OMIM:303600
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system	ORPHA:637
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Witteveen-Kolk Syndrome	Branchial fistula, Short stature, Polyhydramnios, Growth delay, Microphthalmia, Intrauterine grow...	OMIM:613406
Hypermobile Ehlers-Danlos Syndrome	Acrocyanosis, Apnea, Cystocele	ORPHA:285
Monosomy 9P	Microphthalmia	ORPHA:261112
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia	OMIM:100300
Pallister-Hall Syndrome	Short stature, Oligohydramnios, Umbilical hernia, Microphthalmia, Intrauterine growth retardation	ORPHA:672
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Lowe Oculocerebrorenal Syndrome	Postnatal growth retardation, Microphthalmia, Short stature	OMIM:309000
Holoprosencephaly 1	Microphthalmia, Short stature	OMIM:236100
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Postnatal growth retardation, Frontal encephalocele, Severe intrauterine growth r...	OMIM:268300
Mowat-Wilson Syndrome	Microphthalmia, Short stature	OMIM:235730
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500

Histopathology

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

There is no histopathology data for Tcf21

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tcf21.

No publications found that use IMPC mice or data for Tcf21.

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MGI Allele	Allele Type	Produced
Tcf21^em1(IMPC)Mbp	Intra-exon deletion	Mice, Tissue
Tcf21^{tm417684(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Tcf21 MGI:1202715

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Gross Morphology Embryo E14.5-E15.5

MicroCT E14.5-E15.5

Human diseases caused by Tcf21 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data