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Gene: Vdr MGI:103076

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

vitamin D (1,25-dihydroxyvitamin D3) receptor

Synonyms:

Nr1i1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Vdr 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 Vdr (2 diseases)
Human diseases predicted to be associated with Vdr (3087 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hypocalcemic Vitamin D-Resistant Rickets		Alopecia, Hyperparathyroidism, Short stature, Recurrent fractures, Osteomalacia, Bone cyst, Genu ...	ORPHA:93160
Vitamin D-Dependent Rickets, Type 2A		Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ...	OMIM:277440

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

Disease	Matching phenotypes	Source
Cystic Angiomatosis Of Bone, Diffuse	Cystic angiomatosis of bone	OMIM:123880
Superior Transverse Scapular Ligament, Calcification Of, Familial	Ectopic ossification in ligament tissue	OMIM:601708
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Growth delay, Elevated circulating parathyroid...	OMIM:619073
Hypophosphatemic Bone Disease	Rickets, Bowing of the legs, Osteomalacia, Hypophosphatemia	OMIM:146350
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Ribbing Disease	Diaphyseal sclerosis	OMIM:601477
Pseudopseudohypoparathyroidism	Brachydactyly, Short stature, Short distal phalanx of the 3rd finger, Abnormality of the endocrin...	ORPHA:79445
Familial Isolated Hyperparathyroidism	Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, H...	ORPHA:99879
Idiopathic Hypercalciuria	Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat...	ORPHA:2197
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper...	ORPHA:140286
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s...	OMIM:600121
Parathyroid Carcinoma	Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:608266
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia, Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Thin bony cort...	OMIM:600785
Hyperparathyroidism 4	Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Nephrolithiasis, Parathyroid carcinoma	OMIM:617343
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Short stature, Hypercalcemia, Parathyroid hyperplasia, Rickets, Renal phosph...	OMIM:612089
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Fai...	OMIM:239199
Fanconi Renotubular Syndrome 2	Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Short stature, R...	OMIM:613388
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath...	OMIM:203330
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tib...	OMIM:241530
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Hypophosphatemic Rickets, X-Linked Dominant	Bowing of the legs, Osteoarthritis, Trapezoidal distal femoral condyles, Femoral bowing, Tibial b...	OMIM:307800
Ethanolaminosis	Cardiomegaly	OMIM:227150
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Hyperparathyroidism, Renal insufficiency, Proteinuria, Hypercalcemia, Bone cyst	ORPHA:2668
Hyperparathyroidism 1	Primary hyperparathyroidism, Hypercalcemia	OMIM:145000
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma...	OMIM:134600
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hyperparathyroidism, Short stature, Recurrent fractures, Osteomalacia, Bone cyst, Genu ...	ORPHA:93160
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ...	OMIM:264700
Renal Tubular Acidosis Iii	Osteomalacia, Rickets, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Nephrocalcino...	OMIM:267200
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Gro...	ORPHA:93324
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ...	OMIM:277440
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating para...	OMIM:603233
Hypocalcemia, Autosomal Dominant 2	Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital...	ORPHA:2239
Hypercholanemia, Familial 1	Failure to thrive, Rickets, Increased serum bile acid concentration, Steatorrhea	OMIM:607748
Hypoparathyroidism, Familial Isolated, 2	Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se...	OMIM:618883
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Rickets, Aminoaciduria, Glycosu...	OMIM:615605
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Severe short stature, Rhizomelia, Short femur, Hypoplasia of the femoral head, Wid...	OMIM:619598
Hypocalcemic Vitamin D-Dependent Rickets	Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Tibial bowing, Femoral bowi...	ORPHA:289157
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Osteomalacia, Distal renal tubular acidosis, Elevated circulating...	OMIM:179800
Hypophosphatemic Rickets, X-Linked Recessive	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300554
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:600081
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypospadias, Hypercalcemia, Adrenal hypoplasia, Decreased response to growth hormone ...	OMIM:614732
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300009
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Hyperparathyroidism, Stage 3 chronic kidney disease, Cortical scl...	OMIM:620366
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Hyperphosphaturia, Short stature, Osteomalacia, Decrease...	ORPHA:157215
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Hypercalcemia, Infantile, 2	Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin...	OMIM:616963
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis...	ORPHA:432
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur...	OMIM:145980
Satoyoshi Syndrome	Alopecia, Short metacarpal, Brachydactyly, Short stature, Malabsorption, Diarrhea, Short metatars...	OMIM:600705
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Neph...	OMIM:145001
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc...	OMIM:308990
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis	OMIM:602722
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Neph...	OMIM:143880
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Hypercalciuria, Increased susceptib...	OMIM:612286
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Elevated circulating...	OMIM:617994
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu...	ORPHA:556037
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Cystinosis	Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Nephrogenic diabetes insipi...	ORPHA:213
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Thymic Neuroendocrine Tumor	Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet...	ORPHA:97289
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu...	ORPHA:556030
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was...	OMIM:610600
Hypocalcemia, Autosomal Dominant 1	Short stature, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, ...	OMIM:601198
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Tyrosinemia Type 1	Generalized aminoaciduria, Rickets of the lower limbs	ORPHA:882
Fanconi-Bickel Syndrome	Osteopenia, Hepatomegaly, Bowing of the long bones, Diabetes mellitus, Hypertriglyceridemia, Hype...	ORPHA:2088
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short stature, Elevated circulating thyroid-stimulating hormone concentration, ...	OMIM:612462
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Growth delay, Increased circulating renin level, ...	OMIM:203400
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce...	OMIM:146200
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Alopecia totalis	ORPHA:1014
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ...	ORPHA:90796
Osteoporosis	Osteoporosis	OMIM:166710
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Bilateral cryptorchidism, Short palm, Joint laxity, Synd...	OMIM:305400
Dent Disease	Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin...	ORPHA:1652
Estrogen Resistance Syndrome	Osteopenia, Acne, Abnormality of the pubic hair, Enlarged polycystic ovaries, Delayed epiphyseal ...	ORPHA:785
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Mccune-Albright Syndrome	Abnormal femur morphology, Aneurysmal bone cyst, Gastroesophageal reflux, Benign gastrointestinal...	ORPHA:562
Spinocerebellar Ataxia Type 27	Akinesia, Tremor, Limb ataxia, Hand tremor, Gait ataxia, Depression, Gait disturbance, Difficulty...	ORPHA:98764
Osteopenia And Sparse Hair	Osteopenia, Joint laxity	OMIM:259690
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct...	ORPHA:249
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis	ORPHA:169095
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Obesity, Congenital hypothyroidism, Colitis, Hypoalbuminemia	ORPHA:88643
Satoyoshi Syndrome	Short stature, Tapered finger, Abnormal hair morphology, Nephrogenic diabetes insipidus, Abnormal...	ORPHA:3130
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,...	ORPHA:90793
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia, Abnormal heart morphology	DECIPHER:16
Alpha-Heavy Chain Disease	Alopecia, Dysgammaglobulinemia, Splenomegaly, Growth delay, Hypocalcemia, Anemia	ORPHA:100025
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Short stature, Tarsal synostosis, Wide capital femoral epiph...	OMIM:147891
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia	OMIM:612287
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar...	ORPHA:2722
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Myocardial infarction, Adrenal hypoplasia, Renal salt wasti...	ORPHA:95409
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Hypocalcemia, Reduced bone mineral density	ORPHA:172
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Diabetes mellitus, Hypouricemia, Proteinuria, Short stature, Large for gestati...	OMIM:616026
Apparent Mineralocorticoid Excess	Renal insufficiency, Short stature, Left ventricular hypertrophy, Abnormal urine sodium concentra...	ORPHA:320
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e...	ORPHA:652
Celiac Disease, Susceptibility To, 1	Alopecia, Short stature, Eczema, Celiac disease, Postnatal growth retardation, Diarrhea, Osteopor...	OMIM:212750
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Short stature, Polyuria, Renal salt wasting, Hypertension, Hypokalemia, Hyperaldost...	OMIM:612780
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Acne, Short stature, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Clef...	ORPHA:247768
Functioning Gonadotropic Adenoma	Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad...	ORPHA:91348
Addison Disease	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:85138
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc...	OMIM:601678
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Glucocort...	ORPHA:171876
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Osteomalacia, Parathormone-independent increased renal tubula...	OMIM:600740
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Primary amenorrhea, Absence o...	OMIM:614837
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Recurrent fractures, Spleno...	OMIM:239200
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d...	OMIM:619398
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S...	OMIM:300635
Kenny-Caffey Syndrome, Type 1	Short palm, Proportionate short stature, Small hand, Birth length less than 3rd percentile, Slend...	OMIM:244460
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Gitelman Syndrome	Prolonged QT interval, Salt craving, Polyuria, Renal magnesium wasting, Hypomagnesemia, Ventricul...	OMIM:263800
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Rickets	OMIM:619232
Candidiasis, Familial, 1	Abnormality of the endocrine system, Alopecia	OMIM:114580
Dent Disease 2	Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc...	OMIM:300555
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	OMIM:300845
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Increased circulating renin level, Prem...	ORPHA:90791
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Alopecia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hy...	ORPHA:3143
L-Ferritin Deficiency	Decreased circulating ferritin concentration, Alopecia	OMIM:615604
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c...	OMIM:177735
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Wiedemann-Steiner Syndrome	Elbow hypertrichosis, Synophrys, High palate, Clinodactyly of the 5th finger, Short phalanx of fi...	OMIM:605130
Albers-Schönberg Osteopetrosis	Osteomyelitis, Short stature, Recurrent fractures, Mandibular osteomyelitis, Generalized osteoscl...	ORPHA:53
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
2P21 Microdeletion Syndrome	Nephrolithiasis, Cystinuria, Growth delay, Hypogonadism, Long eyelashes, Hypocalcemia, Failure to...	ORPHA:163693
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Pheochromocytoma, Elevated urinary vanillylmandel...	ORPHA:653
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Depressed nasal bri...	OMIM:215100
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,...	OMIM:615300
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp...	OMIM:145981
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Elevated circulating creatine kinase concentration, Micromelia, Bowin...	OMIM:255800
Acromesomelic Dysplasia 3	Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ...	OMIM:609441
Spastic Paraplegia-Nephritis-Deafness Syndrome	Severe short stature, Proteinuria, Hypertension, Clinodactyly of the 5th finger, Nephropathy	ORPHA:2820
Complete Androgen Insensitivity Syndrome	Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Increased circulating antimullerian ho...	ORPHA:99429
46,Xx Gonadal Dysgenesis	Osteopenia, Streak ovary, Premature ovarian insufficiency, Arachnodactyly, Short stature, Sparse ...	ORPHA:243
Slc35A2-Cdg	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Abnormal long bone mo...	ORPHA:356961
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ...	OMIM:171400
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Reduced bone mineral density, Sex rever...	ORPHA:168558
Preeclampsia	Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Abnormality ...	ORPHA:275555
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Reduced bone min...	ORPHA:289548
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia, Coxa valga	OMIM:191420
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molec...	OMIM:219800
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hypovolem...	ORPHA:427
Fanconi-Bickel Syndrome	Elevated gamma-glutamyltransferase level, Hepatomegaly, Ketonuria, Hypouricemia, Osteomalacia, El...	OMIM:227810
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalc...	OMIM:612526
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Rickets, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis	OMIM:611590
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Elevated hepatic transaminase, Abnormal circulating enzyme conc...	ORPHA:79303
Pseudohypoparathyroidism Type 2	Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone...	ORPHA:94090
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Depressed nasal bridge, Decreased response to growth hormone stimulation test, Patchy osteosclero...	OMIM:241410
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Hypoparathyroidism, Severe short stature, Bowing of the long bones, ...	OMIM:156400
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Failure to thrive in infancy, Medullary thyroid carcinoma, Elevated urinary epineph...	OMIM:162300
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys...	OMIM:601705
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ...	ORPHA:89936
Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia	Primary hyperparathyroidism	OMIM:600166
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612964
Corticobasal Syndrome	Limb dystonia, Somatic sensory dysfunction, Akinesia, Tremor, Bradykinesia, Dementia, Gait distur...	ORPHA:454887
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Short stature, Premature osteoarthritis, Coxa vara, Genu ...	OMIM:607078
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Androgen Insensitivity Syndrome	Absent facial hair, Sparse axillary hair, Elevated circulating luteinizing hormone level, Sparse ...	OMIM:300068
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Alopecia, Paradoxical increased cortisol secretion on dexametha...	ORPHA:189427
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Pseudohypoparathyroidism Type 1C	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79444
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ...	OMIM:228300
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Abnormal large intestine morpholo...	ORPHA:2198
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets, Stage 5 chronic kidney disease, Proteinuria	OMIM:219900
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo...	ORPHA:913
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Hypercalcemia, Renal agenesis, Short stature, Cryptorchi...	OMIM:618440
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis	OMIM:615269
Mccune-Albright Syndrome	Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm...	OMIM:174800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypospadias, Depressed nasal bridge, Cryptorchidism, Decreased circulating antibody level, Agamma...	OMIM:616910
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Osteopenia, Eunuchoid habitus, Hypergonadotropic ...	ORPHA:91
Blepharophimosis-Impaired Intellectual Development Syndrome	Synophrys, Flexion contracture, Low anterior hairline, Gastroesophageal reflux, Clinodactyly of t...	OMIM:619293
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ...	OMIM:248250
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
East Syndrome	Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteron...	ORPHA:199343
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Renal insufficiency, Short stature, Hypohidrosis, Hypocalcemia, Nephropathy, ...	ORPHA:1563
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Short stature, Abnormal circulating calcium-phosphate regulating hormone conc...	ORPHA:2238
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus...	ORPHA:210110
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation...	ORPHA:3329
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short stature, Short toe, Osteoporosis, Pseudohypoparathyroidism, Short metatar...	OMIM:103580
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Short stature, Epistaxis, Intrahepatic cholestasis with episodic jaundi...	OMIM:211600
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased cir...	OMIM:241200
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Crypt...	ORPHA:3363
Isolated Osteopoikilosis	Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ...	ORPHA:166119
Oliver-Mcfarlane Syndrome	Alopecia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormon...	OMIM:275400
Estrogen Resistance	Osteopenia, Increased circulating osteocalcin level, Acne, Hyperinsulinemia, Increased serum estr...	OMIM:615363
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Xp22.13P22.2 Duplication Syndrome	Short stature, Tapered finger, Broad nasal tip, Recurrent upper respiratory tract infections, Sma...	ORPHA:284180
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Alopecia, Failure to thrive, Short hallux, Limitation of joint mobility, Ectopic o...	ORPHA:337
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Osteoma...	ORPHA:3337
X-Linked Intellectual Disability, Cilliers Type	Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Hypospadias, Prominen...	ORPHA:163971
Seckel Syndrome 7	Severe short stature, Prominent nose, Abnormal carpal morphology, Primary amenorrhea, Central hyp...	OMIM:614851
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Polydipsia, Mesoaxial hand polydactyly, Polyuria,...	OMIM:615994
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Myoectodermal Gonadal Dysgenesis Syndrome	Clitoral hypoplasia, Cutaneous finger syndactyly, Short palm, Short stature, Highly arched eyebro...	OMIM:618419
Tuberous Sclerosis Complex	Pancreatic endocrine tumor, Renal cyst, Pheochromocytoma, Ungual fibroma, Carcinoid tumor, Intern...	ORPHA:805
Juvenile Nephropathic Cystinosis	Abnormal long bone morphology, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular...	ORPHA:411634
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Pancytopenia, Failure to thrive, Skin rash, Elevated circulating C-reactive prot...	OMIM:616050
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Unsteady gait, Blepharospasm, Bradykinesia, Dementia, Falls, ...	ORPHA:240094
Pde4D Haploinsufficiency Syndrome	Prominent nose, Short metatarsal, Elevated circulating parathyroid hormone level, Bilateral coxa ...	ORPHA:439822
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Long nose, High palate, Anteverted nares, ...	OMIM:615866
Woodhouse-Sakati Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Prominent nose, Decreased seru...	ORPHA:3464
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Osteoporosis, Gout, Increased ...	OMIM:610947
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Intracranial hemor...	ORPHA:90795
Short Stature, Dauber-Argente Type	Osteopenia, Long toe, Short stature, Arachnodactyly, Decreased fibular diameter, Postnatal growth...	OMIM:619489
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Intestinal obstruction, Depressed nasal bridge, Short st...	ORPHA:2323
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Micrognathia, Multiple prenatal fractures, Cardiomegaly, Flexion contracture, Micrope...	OMIM:616897
5-Oxoprolinase Deficiency	Abdominal pain, Diarrhea, Enterocolitis, Reduced 5-oxoprolinase level, Vomiting	OMIM:260005
Apparent Mineralocorticoid Excess	Small for gestational age, Short stature, Growth delay, Hypertension, Hypokalemia, Failure to thr...	OMIM:218030
Pseudohypoparathyroidism Type 1B	Prolonged QT interval, Calcinosis, Increased bone mineral density, Short stature, Cortical subper...	ORPHA:94089
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension	OMIM:620125
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Hyperhidrosis, Weight loss, Pheochromocytoma, Elevated circulating c...	ORPHA:1332
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Diarrhea, Osteoporosis, Rickets, Vomiting, Type I diabetes mellitus, Failure to thrive	OMIM:560000
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture	OMIM:615883
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Hyperaldosteronism, Pol...	OMIM:613677
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmi...	OMIM:614841
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Coarse facial features, Anteverted nares, Tapered...	OMIM:300602
Nicolaides-Baraitser Syndrome	High, narrow palate, Abnormal finger morphology, Short palm, Sparse hair, Thick nasal alae, Alope...	ORPHA:3051
Ovarian Dysgenesis 8	Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Primary amenorrh...	OMIM:618187
Hypergonadotropic Hypogonadism-Cataract Syndrome	Hypergonadotropic hypogonadism, Short stature, Recurrent fractures, Increased circulating gonadot...	ORPHA:2410
Parathyroid Carcinoma	Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Elevated circulating parathyroid h...	ORPHA:143
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Acne, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia...	ORPHA:3000
Femoral-Facial Syndrome	Short femur, Short stature, Maternal diabetes, Micrognathia, Renal hypoplasia/aplasia, Cryptorchi...	ORPHA:1988
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Severe short stat...	OMIM:127000
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Diarrhea, Rickets, Steatorrhea, Hypocholesterolemia, Failure to th...	OMIM:607765
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Helix Syndrome	Anhidrosis, Hyperparathyroidism, Renal insufficiency, Polyuria, Hypermagnesemia, Xerostomia, Neph...	OMIM:617671
Distal Renal Tubular Acidosis	Hyperphosphaturia, Failure to thrive, Short stature, Osteomalacia, Hypocitraturia, Rickets, Nephr...	ORPHA:18
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Intestinal obstruction, Acute colitis, Abnormal pericardium morpho...	ORPHA:67
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Severe short stature, Pes planus, Joint stiffness, Avascu...	OMIM:132400
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Moynahan Syndrome	Sparse hair, Alopecia, Hypogonadism, Cachexia	ORPHA:2574
Immunodeficiency, Common Variable, 11	Failure to thrive, Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of clas...	OMIM:615767
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ...	OMIM:620056
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ...	OMIM:166600
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Femur fracture, Increased circulatin...	OMIM:259700
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Short stature, Proximal femoral metaphyseal ...	OMIM:609324
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:618117
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, In...	OMIM:602080
Abruzzo-Erickson Syndrome	Toe syndactyly, Hypospadias, Short stature, Cryptorchidism, Short toe, Coronal hypospadias, Cleft...	ORPHA:921
Senior-Loken Syndrome	Short stature, Chronic kidney disease, Stage 5 chronic kidney disease, Cone-shaped epiphysis, Hyp...	ORPHA:3156
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Ovarian Dysgenesis 2	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea...	OMIM:300510
Idiopathic Achalasia	Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Decreased prealbumin level, Recurr...	ORPHA:930
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Neu-Laxova Syndrome	Osteopenia, External genital hypoplasia, Micromelia, Flexion contracture, Depressed nasal ridge, ...	ORPHA:2671
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia	OMIM:608320
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ...	ORPHA:54370
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Hypogonadism, Pili torti, Abnormal testis morphology, Sparse b...	ORPHA:202
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea, Delayed pu...	OMIM:300604
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Sparse facial hair, Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ov...	ORPHA:2232
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Reduced bone mineral density, Hypopho...	ORPHA:2611
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Renal salt wasting, Increased urinary potassium, Impaire...	ORPHA:89938
Parkinson Disease 17	Tremor, Resting tremor, Bradykinesia, Akinesia	OMIM:614203
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Postnatal ...	OMIM:606407
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Hypertension, Proteinuria, Intrauterine growth retardation	OMIM:189800
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hyperparathyroidism, Recurrent fractures	OMIM:618107
Calciphylaxis	Ectopic ossification, Hyperphosphatemia, Stage 5 chronic kidney disease, Secondary hyperparathyro...	ORPHA:280062
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Abnorm...	OMIM:619795
49,Xyyyy Syndrome	Eunuchoid habitus, Abnormality of the epiphyses of the elbow, Coarse facial features, External ge...	ORPHA:99330
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Gait ataxia, Progressive cerebellar ataxia, Cognitive impairment	ORPHA:98773
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Congenital Disorder Of Glycosylation, Type Ig	Small scrotum, Hypocalcemia, Short tibia, Micropenis, Decreased circulating IgG level, Hypospadia...	OMIM:607143
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Polydipsia, Hypercalcemia, Renal hamartoma, Testi...	ORPHA:99880
Immunodeficiency 76	Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis,...	OMIM:619164
Thumb Deformity And Alopecia	Short thumb, Alopecia, Short stature	OMIM:188150
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Ovarian Dysgenesis 5	Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ...	OMIM:617690
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ...	OMIM:243150
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Metaphyseal Chondrodysplasia, Schmid Type	Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin...	OMIM:156500
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Ankle swelling, Microg...	OMIM:166300
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi...	OMIM:612310
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Zellweger Syndrome	Multicystic kidney dysplasia, Hypospadias, Depressed nasal bridge, Short stature, Malabsorption, ...	ORPHA:912
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ...	OMIM:309000
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Osteomyelitis, Short stature, Autoimmunity, Thro...	ORPHA:47
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:613101
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Glycosuria	OMIM:268315
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Grant Syndrome	Large face, Bowing of the long bones, Depressed nasal bridge, Short stature, Decreased skull ossi...	ORPHA:2097
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan...	OMIM:617006
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Type 1 Diabetes Mellitus	Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia, Polyphagia	OMIM:222100
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Hypertension And Brachydactyly Syndrome	Short metacarpal, Short stature, Cone-shaped epiphysis, Hypertension, Short phalanx of finger, Ty...	OMIM:112410
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Atypical Juvenile Parkinsonism	Resting tremor, Akinesia, Inability to walk, Gait ataxia, Bradykinesia, Shuffling gait, Dystonia,...	ORPHA:391411
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Short stature, Capitate-hamate fusion, Short toe, Limited elb...	OMIM:614078
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl...	OMIM:229070
X-Linked Intellectual Disability, Van Esch Type	Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Short stature, Crypto...	ORPHA:163976
Bullous Dystrophy, Hereditary Macular Type	Severe short stature, Alopecia totalis, Tapered finger, Short finger, Abnormality of the nail	OMIM:302000
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Prominent nose, Long nose, Abnormal finger morphology, Short palm, Large ...	ORPHA:2636
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o...	OMIM:266600
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve...	OMIM:300869
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Micromelia, Bowing of...	OMIM:241500
Axial Osteomalacia	Increased bone mineral density, Renal cyst, Osteomalacia, Elevated circulating creatine kinase co...	OMIM:109130
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hep...	OMIM:604416
Trisomy 20P	Low anterior hairline, Reduced bone mineral density, Coarse hair, Abnormal facial shape, Finger s...	ORPHA:261318
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor...	OMIM:614129
Lessel-Kubisch Syndrome	Renal insufficiency, Short stature, Sparse pubic hair, Renal hypoplasia, Premature graying of hai...	OMIM:618681
Gracile Bone Dysplasia	Failure to thrive, Short stature, Flared metaphysis, Slender long bone, Hypocalcemia, Decreased s...	OMIM:602361
Autosomal Recessive Hypophosphatemic Rickets	Abnormality of renal excretion, Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic rickets, H...	ORPHA:289176
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, ...	ORPHA:411629
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Cortisone Reductase Deficiency 1	Precocious puberty, Alopecia, Obesity, Hirsutism	OMIM:604931
Insulinoma	Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,...	ORPHA:97279
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Epiphyseal dysplasia, Calcinosis, Congenital hip dislocation, Osteopenia, Micrognat...	OMIM:617913
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Autoimmune hypopa...	ORPHA:36913
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Fibular hypoplasia, Aplasia/Hyp...	OMIM:612447
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,...	OMIM:620152
Rhizomelic Chondrodysplasia Punctata	Alopecia, Rhizomelia, Short stature, Limitation of joint mobility, Growth delay, Epiphyseal stipp...	ORPHA:177
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ...	OMIM:241150
Perrault Syndrome 1	Short stature, Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea, Gonada...	OMIM:233400
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Ventricular...	OMIM:601005
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ...	OMIM:273250
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Short stature, Hypoplasia of the femoral head, Flat capit...	OMIM:226900
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Memory impairment, Sparse body hair, Alopecia uni...	ORPHA:1008
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Short statur...	OMIM:239000
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Depressed nasal bridge, Neonatal hyperbilirubinemia,...	ORPHA:90674
Gaisböck Syndrome	Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Myocardial infarction, Overweight, Sple...	ORPHA:90041
Manganese Poisoning	Postural tremor, Confusion, Akinesia, Depression, Bradykinesia, Irritability, Memory impairment, ...	ORPHA:306682
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Hypophosphatasia	Bowing of the long bones, Short stature, Hypercalcemia, Recurrent fractures, Craniosynostosis, Fa...	ORPHA:436
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cachexia, Anorexia, Hypomagnesemia, Clubbing, Hematochezia, Clubbing of fingers, Hypoka...	OMIM:175500
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic h...	ORPHA:100083
Ring Chromosome 10 Syndrome	Sandal gap, Cachexia, Tapered finger, Micrognathia, Hypocalcemia, Intrauterine growth retardation	ORPHA:1438
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Hypocalcemia, Sho...	ORPHA:175
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Autoimmunity, Reactive hypoglycemia, Insulin-resis...	ORPHA:411593
Neuroendocrine Tumor Of The Colon	Abnormal pulmonary valve cusp morphology, Anorexia, Lack of bowel sounds, Bloody diarrhea, Atypic...	ORPHA:100080
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Primary adrena...	ORPHA:3453
Spondyloepimetaphyseal Dysplasia, Missouri Type	Disproportionate short stature, Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Femo...	ORPHA:93356
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Acrodysostosis 1 With Or Without Hormone Resistance	Mild postnatal growth retardation, Neonatal epiphyseal stippling, Elevated circulating thyroid-st...	OMIM:101800
Erythrokeratodermia Variabilis	Alopecia, Diabetes mellitus, Skin rash, Short stature, Tapered finger, Abnormal hair morphology, ...	ORPHA:317
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Severe short stature, Depressed nasal bridge, Osteomalacia, Coxa valga, Avascular nec...	ORPHA:1901
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Type II...	ORPHA:225
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, Abnormal blood ion con...	ORPHA:37042
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu...	OMIM:618394
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ...	ORPHA:529970
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Prominent nose, Short metatarsal, Clitoral hypoplasia, Sparse hair, Long face, Short ...	OMIM:614813
Genetic Recurrent Myoglobinuria	Dark urine, Elevated hepatic transaminase, Renal insufficiency, Recurrent myoglobinuria, Exercise...	ORPHA:99845
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Diabetes mellitus, Hypospadias, Narrow face, Cachexia, P...	ORPHA:3242
Megalencephaly	Long penis, Wide nasal bridge, Genu valgum, Truncal obesity, Macroorchidism	ORPHA:2477
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica...	ORPHA:750
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ...	OMIM:618969
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Diabetes mellitus, Hypospadias, Round face, Anteverted nares, Depressed nasal b...	OMIM:614613
Legg-Calvé-Perthes Disease	Cartilage destruction	ORPHA:2380
Distal Monosomy 7Q36	Large face, Hypoplasia of penis, Short stature, Cryptorchidism, Bulbous nose, Symphalangism affec...	ORPHA:1636
Arthrogryposis, Distal, Type 2A	Knee flexion contracture, High palate, Spina bifida occulta, Wrist flexion contracture, Ulnar dev...	OMIM:193700
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ...	OMIM:619949
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Hypercalciuria, Reduced bone mineral density, Nephrocal...	ORPHA:428
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Anteverted nares, Eczema, Abnormality of the endocrine system, Cryptorch...	ORPHA:464288
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Femoral b...	OMIM:201750
46,Xy Sex Reversal 4	Distal symphalangism, Hypergonadotropic hypogonadism, Anteverted nares, Prominent nose, Elevated ...	OMIM:154230
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo...	OMIM:300539
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Abnormality of the...	OMIM:103900
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Rectal prolapse, Cutaneous finger syndactyly, Hypoalbuminemia,...	OMIM:235510
Pendred Syndrome	Hyperparathyroidism, Thyroid carcinoma, Nephropathy, Hypothyroidism, Goiter	ORPHA:705
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea, Decreased circulating antibody le...	ORPHA:33355
46,Xy Sex Reversal 1	Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute...	OMIM:400044
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h...	ORPHA:231580
Hypogonadism-Cataract Syndrome	Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti...	OMIM:240950
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Crypt...	OMIM:614736
Fragile X Syndrome	Macroorchidism, postpubertal, Joint laxity, Coarse facial features, Periventricular heterotopia, ...	OMIM:300624
Neuroendocrine Tumor Of The Rectum	Abnormal pulmonary valve cusp morphology, Anorexia, Lack of bowel sounds, Bloody diarrhea, Atypic...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Abnormal pulmonary valve cusp morphology, Anorexia, Lack of bowel sounds, Bloody diarrhea, Atypic...	ORPHA:100082
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas...	OMIM:613845
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Lymphadenopathy, Inflam...	ORPHA:26790
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl...	ORPHA:2501
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Short stature, Hypercalcemia, Nephrocalcinosis, Abnormality of the frontal...	ORPHA:557003
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Short stature, Generalized joint laxity, Patellar hypoplasia, Short femoral...	OMIM:609325
49,Xxxyy Syndrome	Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor...	ORPHA:261534
17Q21.31 Microduplication Syndrome	Toe syndactyly, Sandal gap, Anteverted nares, Synophrys, High palate, Delayed puberty, Clinodacty...	ORPHA:217340
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co...	ORPHA:53697
Lujan-Fryns Syndrome	Narrow face, Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Joint hyperflexibil...	ORPHA:776
Ovarian Dysgenesis 4	Short stature, Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimu...	OMIM:616185
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Gonadal dysgenesis, Osteoporosis, Primary amenorrhea	OMIM:233300
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level, Renal salt wasting	OMIM:619406
Pfapa Syndrome	Nausea and vomiting, Hepatomegaly, Malabsorption, Abdominal pain, Splenomegaly, Weight loss, Lymp...	ORPHA:42642
Emery-Nelson Syndrome	Depressed nasal bridge, Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb...	ORPHA:1927
Gnathodiaphyseal Dysplasia	Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures	OMIM:166260
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Monocytosis, Inflammation of t...	OMIM:619281
Isolated Follicle Stimulating Hormone Deficiency	Gonadotropin deficiency, Decreased serum estradiol, Male hypogonadism, Hypogonadotropic hypogonad...	ORPHA:52901
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Genu valgum, Hypophosphatemia	OMIM:618913
Systemic Lupus Erythematosus 17	Alopecia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic lupus erythemato...	OMIM:301080
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Short stature, Abnormal nasal morpho...	ORPHA:2850
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Coarse hair, Short palm, Large iliac wing, Osteomalacia, Ap...	ORPHA:198
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease	OMIM:613148
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Hypertension, Microscopic hematuria	ORPHA:2613
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Spinocerebellar Ataxia 21	Postural tremor, Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Cogni...	OMIM:607454
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, Tubulointerstitial nephritis, Hypocalcemia, Sparse hair, Joint laxity, Hep...	OMIM:218330
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:256100
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Obesity, Polyphagia, Hypertension, Type II diabetes melli...	ORPHA:71529
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Short stature, Joint stiffness, Absent eyelashes, Sparse eyebrow, Growt...	ORPHA:2985
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Brachydactyly, Anteverted nares, Short stature, Bulbous nose, Wide nasal bridge, Growth delay, Gl...	OMIM:613604
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Equinovarus deformity,...	ORPHA:746
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Hemifacial hypoplasia, Metaphyseal widening, Generalized...	ORPHA:536471
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short stature, Hypertension, Short phalanx of finger, Brachydactyly	ORPHA:1276
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Severe short stature, Hypoplastic ischia, Bowing of the legs, Hypoplastic ilia,...	ORPHA:1865
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Short stature, Coxa valga, Advanced ossification of carpal bones, Cleft palate, Glo...	OMIM:620269
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Pediatric-Onset Graves Disease	Thyrotoxicosis with diffuse goiter, Increased circulating T4 concentration, Intrauterine growth r...	ORPHA:525731
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Depressed nasal bridge, Female infertility, Highly arched eyebro...	OMIM:110100
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long foot, Postnatal growth retardation, Long penis, Hyperinsulin...	ORPHA:508
Spermatogenic Failure, X-Linked, 6	Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage...	OMIM:301101
Rothmund-Thomson Syndrome Type 1	Osteopenia, Patellar hypoplasia, Vomiting, Sparse hair, Short phalanx of finger, Hypothyroidism, ...	ORPHA:221008
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Severe short stature, ...	ORPHA:1240
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Alopecia, Severe short stature, Camptodactyly of finger, Short thumb, Fingerna...	ORPHA:2251
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Eunuchoid habitus, Narrow nasal base, Wide nose, Cleft ala nasi, Elevated circulating luteinizing...	ORPHA:3044
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Hyperhidrosis, Cutaneous finger syndacty...	OMIM:101200
Keratoderma Hereditarium Mutilans	Alopecia, Autoamputation of digits, Hypogonadotropic hypogonadism, Osteolysis, Honeycomb palmopla...	ORPHA:494
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong...	OMIM:604765
Juvenile Paget Disease	Bowing of the long bones, Short stature, Recurrent fractures, Cranial hyperostosis, Osteoporosis,...	ORPHA:2801
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Pedal edema, Hypertension,...	ORPHA:84090
Rabson-Mendenhall Syndrome	Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Nephrocal...	ORPHA:769
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Postnatal growth retardation, Flexion contracture, Elevated circulatin...	OMIM:616733
Desbuquois Dysplasia 2	Synophrys, Metaphyseal widening, Short phalanx of finger, Bifid uvula, Genu varum, Joint laxity, ...	OMIM:615777
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Akinesia, Bradykinesia, Dystonia, Freezing of gait	OMIM:619911
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Larsen Syndrome	Finger syndactyly, Brachydactyly, Depressed nasal bridge, Short nail, Craniosynostosis, Short sta...	ORPHA:503
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Hypothyroidism, Fine hair, Hypohidrosis, Dystrophic ...	ORPHA:1882
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Intestinal obstruction, Acute hepatic...	ORPHA:131
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti...	ORPHA:358
Central Diabetes Insipidus	Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive, Diabetes insipidus, Nocturia	ORPHA:178029
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism, Limited elbow extension, Tapered finger	OMIM:300706
Cernunnos-Xlf Deficiency	Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, Growth delay, T lymphocytop...	ORPHA:169079
Aggressive Systemic Mastocytosis	Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis...	ORPHA:98850
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Alopecia, Autoimmune hemolytic ...	OMIM:615559
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Short stature, Abnormal mitral valve morphology, Cryptorchidism, Limitation of joint...	ORPHA:1192
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Short stature, Cleft palate, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Facial asy...	OMIM:601076
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna	OMIM:231095
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620126
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, P...	OMIM:616100
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Ovarian Dysgenesis 10	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Pachydermoperiostosis	Hyperhidrosis, Genu varum, Acne, Abnormal fingernail morphology, Osteoporosis, Abnormal hair quan...	ORPHA:2796
Eiken Syndrome	Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morphology, Short ...	ORPHA:79106
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Pneumonia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Ul...	OMIM:617638
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los...	OMIM:619079
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Growth delay, Hyperactive renin-angiotensin system, Hyperaldosteroni...	OMIM:214700
Blue Diaper Syndrome	Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei...	ORPHA:94086
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la...	OMIM:614700
Spermatogenic Failure 51	Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp...	OMIM:619177
Trichothiodystrophy 1, Photosensitive	Brittle hair, Flexion contracture, Sparse hair, Tiger tail banding, Decreased circulating IgG lev...	OMIM:601675
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre...	OMIM:615474
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence...	OMIM:616098
Ring Chromosome Y Syndrome	Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge...	ORPHA:261529
Ficolin 3 Deficiency	Necrotizing enterocolitis	OMIM:613860
Achondrogenesis Type 1B	Severe short stature, Anteverted nares, Micromelia, Abnormal enchondral ossification, Disproporti...	ORPHA:93298
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m...	ORPHA:94068
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ...	ORPHA:369929
Rothmund-Thomson Syndrome Type 2	Osteopenia, Long nose, Patellar hypoplasia, High palate, Vomiting, Sparse hair, Short phalanx of ...	ORPHA:221016
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fatigable weak...	ORPHA:2325
Otospondylomegaepiphyseal Dysplasia	Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone morphology, Glo...	ORPHA:1427
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Proximal placement of thumb, Limited elbow movement, Synophrys, Low anterior hairline, High palat...	OMIM:610759
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim...	OMIM:617565
Achondrogenesis Type 1A	Severe short stature, Anteverted nares, Recurrent fractures, Micromelia, Abnormal enchondral ossi...	ORPHA:93299
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Neuroendocrine Tumor Of Stomach	Abnormal pulmonary valve cusp morphology, Anorexia, Poor appetite, Lack of bowel sounds, Bloody d...	ORPHA:100075
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Short stature, Anorexia, Nephrogenic diabetes insipidus, Functi...	ORPHA:223
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the t...	ORPHA:3344
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Liddle Syndrome 1	Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease...	OMIM:177200
Chung-Jansen Syndrome	Round face, Anteverted nares, Joint hypermobility, Tapered finger, Cryptorchidism, Synophrys, Obe...	OMIM:617991
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea...	ORPHA:1916
Menkes Disease	Joint laxity, Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Metaphys...	OMIM:309400
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism, Square face, High palate, Short stature	OMIM:300428
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Long face, Brachydactyly, Toe syndactyly, Narrow face, Camptodactyly of finger, Hi...	ORPHA:1327
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogo...	OMIM:235200
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Depressed nasal bridge, Osteoporosis, Intestinal lymphangiectasia, Growth delay, Camp...	OMIM:616006
Peroxisome Biogenesis Disorder 3A (Zellweger)	Wide anterior fontanel, Wide nasal bridge, Epiphyseal stippling, Polycystic kidney dysplasia, Inc...	OMIM:614859
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Short stature, Polyuria, Megacystis, Hypernatremia, Polydipsia, Failure to thrive, Diabetes insip...	OMIM:304800
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne...	ORPHA:231625
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Short stature, Ventricular septal defect, Abnormality of cartila...	ORPHA:3426
Neurodegeneration With Brain Iron Accumulation 5	Akinesia, Tremor, Bradykinesia, Dementia, Dystonia, Mental deterioration	OMIM:300894
Amed Syndrome, Digenic	Short stature, Adrenal hypoplasia, Hypoplasia of the uterus, Bone marrow hypocellularity, Long th...	OMIM:619151
Down Syndrome	Joint laxity, Sandal gap, Depressed nasal bridge, Aganglionic megacolon, Protruding tongue, Depre...	ORPHA:870
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Short stature, Polyuria, Nephrogenic diabetes insipidus, Megacystis, Hypernatremia, Polydipsia, F...	OMIM:125800
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno...	ORPHA:2494
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Short stature, Small for gestational age, Reduced bone mineral density, Delayed ossification of c...	OMIM:618392
Distal Duplication 5Q	Hypoplasia of the ulna, Hypospadias, Eczema, Craniosynostosis, Absent thumb, Prominent nasal brid...	ORPHA:96097
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor...	OMIM:311300
Fragile X Syndrome	Joint laxity, Narrow face, Sinusitis, Gastroesophageal reflux, Otitis media, Macroorchidism, Chro...	ORPHA:908
Premature Ovarian Failure 8	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
17Q11.2 Microduplication Syndrome	Sparse eyelashes, Short stature, Sparse eyebrow, Bifid nose, Macroorchidism, Thick nasal alae, De...	ORPHA:139474
Acrodysostosis	Micromelia, Short metatarsal, Depressed nasal ridge, Abnormality of the nail, Hypoplasia of the u...	ORPHA:950
Premature Ovarian Failure 17	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi...	OMIM:619146
Peroxisome Biogenesis Disorder 1A (Zellweger)	Adrenal hypoplasia, High, narrow palate, High palate, Ulnar deviation of the hand or of fingers o...	OMIM:214100
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Anteverted nares, Micromelia, Abnormal thumb morphology, Diarr...	ORPHA:1842
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Deep-set nails, Overlapping toe, Short stature, Micrognathia, Wide anterior fon...	OMIM:201170
Myotonic Dystrophy 2	Elevated circulating creatine kinase concentration, Frontal balding, Oligozoospermia, Decreased c...	OMIM:602668
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, Maturity-onset diabetes of the young, Micrognathia, Postnatal growth retard...	ORPHA:254531
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar...	ORPHA:77296
Pierpont Syndrome	Short palm, Wide nose, Short stature, Broad nasal tip, Cryptorchidism, Short toe, High anterior h...	OMIM:602342
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ...	ORPHA:2070
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Broad nasal tip, Postnatal growth retardation, Cryptorchidism, Pancreatic lymphangiectasis, Posta...	ORPHA:1655
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Immunodeficiency 57 With Autoinflammation	Failure to thrive, Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Decreased ci...	OMIM:618108
Peroxisome Biogenesis Disorder 7A (Zellweger)	Elevated circulating hexacosanoic acid concentration, Wide anterior fontanel, Epiphyseal stipplin...	OMIM:614872
Thoracomelic Dysplasia	Round face, Abnormal fibula morphology, Genu valgum, Low posterior hairline, Joint hyperflexibili...	ORPHA:1803
Potocki-Shaffer Syndrome	Nephroblastoma, Micrognathia, Hypertension, Delayed puberty, Micropenis, Decreased skull ossifica...	ORPHA:52022
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Small for gestational age, Iliac crest serration, Micromelia, Short stature, Wide distal femoral ...	OMIM:613320
Spermatogenic Failure 14	Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti...	OMIM:615842
Stuve-Wiedemann Syndrome 1	Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Sparse hair, Short tibia, ...	OMIM:601559
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Hypo...	ORPHA:56304
Feingold Syndrome 2	Short stature, Postnatal growth retardation, Short thumb, Short middle phalanx of the 2nd finger,...	OMIM:614326
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
X-Linked Hypohidrotic Ectodermal Dysplasia	Hypertension, Type I diabetes mellitus, Sparse hair, Anterior hypopituitarism, Sparse body hair, ...	ORPHA:181
Hypercholanemia, Familial, 2	Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Synophrys, Joint hypermobility, Short nose	OMIM:300143
Colchicine Poisoning	Hyponatremia, Alopecia, Renal insufficiency, Myocarditis, Congestive heart failure, Hypovolemia, ...	ORPHA:31824
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Short stature, Thin long bone diaphyses, Post...	ORPHA:93325
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Micromelia, Low anterior hairline, Coxa vara,...	ORPHA:800
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar...	OMIM:618078
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-...	ORPHA:47159
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature...	OMIM:156230
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Parathormone-independent in...	ORPHA:405
Alstrom Syndrome	Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h...	OMIM:203800
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi...	ORPHA:75566
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Flexion contracture, Small hand, Obesity, High palate, Macroorchidism, Male hypogonadism, Wrist f...	OMIM:300055
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Postnatal growth retardation...	OMIM:302960
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ...	ORPHA:399805
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Alopecia, Diabetes mellitus, Adrenal hyperplasia, Osteoporosis, Increased body weight...	OMIM:615830
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno...	ORPHA:248
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Coarse facial features, Restricted large joint movement, Maternal ...	ORPHA:93346
Primary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating antibody level, Growth delay, Decreased circulating total IgM,...	ORPHA:90362
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Short stature, Hypoplastic scapulae, Hypoplastic ilia, H...	ORPHA:93333
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo...	ORPHA:26793
Inflammatory Bowel Disease 11	Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine	OMIM:191390
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Sparse eyelashes, Depressed nasal bridge, Abnormal hair pattern, S...	ORPHA:35173
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Short stature, Limitation of joint mo...	ORPHA:2994
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Renal cyst, High palate, Pachygyria, Hypospadias, Cryptorchidism, ...	OMIM:614866
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Graft Versus Host Disease	Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu...	ORPHA:39812
Renal Hypoplasia	Renal insufficiency, Recurrent urinary tract infections, Small for gestational age, Proteinuria, ...	ORPHA:93101
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephri...	ORPHA:94080
Achondrogenesis	Severe short stature, Anteverted nares, Micromelia, Abnormal enchondral ossification, Abnormality...	ORPHA:932
Distal Duplication 18Q	Hypoplasia of penis, Round face, Arachnodactyly, Camptodactyly of finger, Abnormal hair pattern, ...	ORPHA:1716
Atkin-Flaitz Syndrome	Coarse facial features, Anteverted nares, Short stature, Broad nasal tip, Obesity, Macroorchidism	ORPHA:1193
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Björnstad Syndrome	Alopecia, Brittle hair, Hypogonadism	ORPHA:123
Perry Syndrome	Akinesia, Tremor, Frontotemporal dementia, Depression, Bradykinesia, Dystonia, Short stepped shuf...	OMIM:168605
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Overlap Myositis	Elevated hepatic transaminase, Subluxation of the small joints of the hand, Abnormal circulating ...	ORPHA:206572
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Hyp...	ORPHA:94093
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Abnormality of the knee, Severe short stature, Short stature, Broad radial metap...	ORPHA:99642
Premature Ovarian Failure 15	Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l...	OMIM:618096
Rothmund-Thomson Syndrome	Osteopenia, Reduced bone mineral density, Vomiting, Sparse hair, Abnormality of the nail, Calcino...	ORPHA:2909
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ...	OMIM:209920
20Q11.2 Microduplication Syndrome	Bifid scrotum, Coarse facial features, Anteverted nares, Depressed nasal bridge, Cryptorchidism, ...	ORPHA:363659
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Alopecia, Sparse eyelashes, Elevated circulating creatine kinase concentration, Spa...	OMIM:615704
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia, Severe short stature, Flexion contracture, Hip dislocation, Severe postnatal growth ret...	OMIM:203550
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Mesomelic short st...	OMIM:249700
Isochromosomy Yp	Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test...	ORPHA:98797
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Chronic hep...	OMIM:614602
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev...	OMIM:616433
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Alopecia, Premature ovarian insufficiency, Hypogonado...	OMIM:241080
Premature Ovarian Failure 20	Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic...	OMIM:619938
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino...	OMIM:615923
Schimke Immunoosseous Dysplasia	Osteopenia, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentrat...	OMIM:242900
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ...	OMIM:617974
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype...	ORPHA:73224
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:613944
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Long face, Small for gestational age, Depressed nasal bridge, Postnatal growth retardation, Crypt...	ORPHA:319332
Bardet-Biedl Syndrome 9	Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Post...	OMIM:615986
Kerion Celsi	Recurrent cutaneous abscess formation, Alopecia	ORPHA:499
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ...	OMIM:619705
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact...	OMIM:210710
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, L...	OMIM:213980
Hypoparathyroidism, X-Linked	Congenital hypoparathyroidism	OMIM:307700
Premature Ovarian Failure 16	Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas...	OMIM:618723
Chromosome 15Q26-Qter Deletion Syndrome	Small for gestational age, Hypospadias, Short stature, Cryptorchidism, Wide nasal bridge, Short m...	OMIM:612626
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97278
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Abnormality of the kidney, Micromelia, Joint stiffness, Hy...	ORPHA:1860
Premature Ovarian Failure 2A	Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Elevated circula...	OMIM:300511
Kleefstra Syndrome 1	Coarse facial features, Hypospadias, Anteverted nares, Protruding tongue, Cryptorchidism, Synophr...	OMIM:610253
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Depressed nasal bridge, Small abnor...	ORPHA:140
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Malabsorption, Abdominal pain, Abdominal distention, Gas...	OMIM:613662
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Takayasu Arteritis	Abnormal endocardium morphology, Increased inflammatory response, Hypertensive crisis, Abnormal h...	ORPHA:3287
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Periodontitis, Gastroesophageal reflux, Chronic otitis media,...	ORPHA:534
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Zollinger-Ellison syndrome, Nausea, Intestinal fistula, Functional intest...	ORPHA:100078
Langer Mesomelic Dysplasia	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Mesomeli...	ORPHA:2632
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Multiple joint contractures, Decreased serum estradiol, Gastroesophageal reflux, Micr...	ORPHA:2959
Glycogen Storage Disease Vi	Hypertriglyceridemia, Failure to thrive in infancy, Postnatal growth retardation, Hyperlipidemia,...	OMIM:232700
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Short femur, Cardiomegaly, Abnormal circulating ceruloplasmin concentrat...	OMIM:620306
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism, Bulbous nose, Coarse facial features, Obesity	OMIM:300238
Intellectual Developmental Disorder, X-Linked 91	Small hand, Obesity, Low posterior hairline, Short foot, Abnormal facial shape, Short 5th finger,...	OMIM:300577
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased p...	ORPHA:169154
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Bjornstad Syndrome	Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at...	OMIM:262000
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, Osteolysis invo...	ORPHA:371428
Bent Bone Dysplasia Syndrome 2	Osteopenia, Atrial septal defect, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar...	OMIM:620076
Distal Deletion 12Q	High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Clinodactyly of ...	ORPHA:96149
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Carpal synostosis, Short stature, Joi...	OMIM:615349
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short stature, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasi...	ORPHA:2370
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp...	OMIM:618314
Spermatogenic Failure 8	Azoospermia, Cryptozoospermia, Oligozoospermia	OMIM:613957
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Rhizomelia	OMIM:166990
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Eunuchoid habitus, Coarse facial features, Wide nose, Arachnodactyly, Joint hypermobi...	ORPHA:2463
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly, Short stature	OMIM:300484
Ruijs-Aalfs Syndrome	Short stature, Down-sloping shoulders, Prominent nasal bridge, Hepatocellular carcinoma, Bulbous ...	OMIM:616200
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Failure to thrive, Sparse eyelashes, Hypospadias, Short stature, Sparse eyebrow, Bifid nasal tip,...	OMIM:618874
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Isolated Congenital Hypoglossia/Aglossia	Nasogastric tube feeding in infancy, Cleft palate, Feeding difficulties, Weight loss, Aspiration ...	ORPHA:141152
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Fair hair, Cardiomegaly, Conjugated hyperbilirubinemia, Congestive hear...	OMIM:269920
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism	OMIM:615266
Oligomeganephronia	Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal agenesis, Micrognat...	ORPHA:2260
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Follicular thyroid carc...	ORPHA:97282
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost...	OMIM:610489
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Akinesia, Tremor, Blepharospasm, Bradykinesia, Social and occupational deteriorat...	ORPHA:240071
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,...	OMIM:616818
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Diabetes mellitus, Abdominal pain	ORPHA:46487
Meckel Syndrome 12	Anteverted nares, Rocker bottom foot, Wide nasal bridge, Hypoplasia of the uterus, Bifid uvula, I...	OMIM:616258
22Q11.2 Deletion Syndrome	Impaired T cell function, Anorectal anomaly, Hypoplasia of the thymus, Abnormality of the uterus,...	ORPHA:567
Ectopic Aldosterone-Producing Tumor	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Renal cortica...	ORPHA:231632
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta...	OMIM:603965
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension, Increased urinary porphobilinoge...	OMIM:121300
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
H Syndrome	Micropenis, Alopecia, Psoriasiform dermatitis, Short stature, Recurrent pharyngitis, Bronchiectas...	ORPHA:168569
Hyperprolactinemia	Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Genu v...	ORPHA:93360
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Metaphyseal widening, Craniofacial osteosclerosis, Increased skull ossification, Diaphyseal scler...	OMIM:618476
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Alopecia, Short stature, Osteolysis involving bones of the upper limbs, Flexion contr...	ORPHA:88630
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplas...	ORPHA:110
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Failure to thrive, Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immun...	ORPHA:98813
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Narrow face, External genital hypoplasia, Convex nasal ridge, Generalized joint laxit...	ORPHA:251028
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo...	OMIM:601859
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov...	ORPHA:280356
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Diarrhea, Osteoporosis, Rickets, Weight loss, Colitis, Steatorrhea, Exocrine pancre...	ORPHA:309031
Opsismodysplasia	Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti...	OMIM:258480
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Limited hip extension, Short femur, Bowing of the legs,...	OMIM:100800
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Postaxial hand polydactyly...	OMIM:235255
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Short stature, Bowing of the legs, Disproportionate short-limb short stature, Limb undergrowth, L...	ORPHA:156728
Thanatophoric Dysplasia	Depressed nasal bridge, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Gray m...	ORPHA:2655
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Glomerulonephritis, ...	ORPHA:2137
Gapo Syndrome	Alopecia, Sparse eyelashes, Dysmenorrhea, Thick nasal alae, Anteverted nares, Sparse eyebrow, Ear...	ORPHA:2067
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Ambiguous genitalia, Anteverted nares, Aganglionic megacolon, Short stature,...	ORPHA:847
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin...	OMIM:300400
Galactose Epimerase Deficiency	Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Feeding difficulties	ORPHA:79238
Hyperparathyroidism, Transient Neonatal	Osteopenia, Hyperparathyroidism, Short femur, Metaphyseal spurs, Unilateral renal agenesis, Recur...	OMIM:618188
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Depressed nasal bridge, Choanal atresia, Short stature, Bilateral cryptorchidis...	OMIM:619859
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia	OMIM:616744
Senior-Loken Syndrome 4	Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Small scrotum, Depressed nasal bridge, Rocker bottom foot, Tapered finger, Cryptorchidism, Cleft ...	OMIM:601353
Cornelia De Lange Syndrome 5	Proximal placement of thumb, Synophrys, Low anterior hairline, High palate, Gastroesophageal refl...	OMIM:300882
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoa...	OMIM:264350
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Hyperextensibility of the finger joints, Narrow face, Joint laxity, Arachnod...	OMIM:309520
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Blue Diaper Syndrome	Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Periventricular Nodular Heterotopia 7	Round face, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares...	OMIM:617201
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Small scrotum, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, High pala...	OMIM:613658
Chromosome 3Pter-P25 Deletion Syndrome	Synophrys, High palate, Gastroesophageal reflux, Anteverted nares, Depressed nasal bridge, Highly...	OMIM:613792
Sepsis In Premature Infants	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:90051
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Joint stiffness, Disproportionate short stature, Limitation...	ORPHA:1801
Robinow Syndrome, Autosomal Recessive 1	Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of hand, Dislocate...	OMIM:268310
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Infantile Systemic Hyalinosis	Osteopenia, Micromelia, Short palm, Aplasia/Hypoplasia of the thymus, Osteomalacia, Chronic diarr...	ORPHA:2176
Ck Syndrome	Narrow face, Prominent nasal bridge, Pachygyria, Abnormal digit morphology, High palate, Abnormal...	OMIM:300831
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ...	OMIM:620311
Premature Ovarian Failure 14	Elevated circulating luteinizing hormone level, Decreased serum estradiol, Elevated circulating f...	OMIM:618014
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Akinesia, Tremor, Distal sensory impairment, Bradykinesia, Dementia, Gait di...	OMIM:606693
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Hypospadias, Anteverted nares, Craniosynostosis, Depres...	ORPHA:171839
Wolman Disease	Nausea and vomiting, Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Cachexia, Splen...	ORPHA:75233
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Liddle Syndrome 2	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:618114
Liddle Syndrome 3	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:618126
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Portal hypertension, Renal hypoplasia, Hepatosplenom...	ORPHA:84081
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Round face, Severe short stature, Micromelia, Metaphy...	OMIM:224400
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland, Limitation of joint mobility, Osteoarthritis, Ectopic ossif...	ORPHA:2762
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97261
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism, Abnormal facial shape	OMIM:300062
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Absent eyebrow, Alopecia, Short metacarpal, Pes planus, Short stature, Craniosynos...	ORPHA:166035
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Micrognathia, Pericardial effusion, Cryptorchidism,...	OMIM:618183
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Coarse facial features, Depressed nas...	OMIM:617425
Hirschsprung Disease	Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure...	ORPHA:388
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Recurrent fractures, Osteopetrosis	OMIM:611490
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Moderately short stature, Flexion con...	ORPHA:157965
Kbg Syndrome	Vertebral fusion, Round face, Anteverted nares, Prominent nasal bridge, Abnormal hair pattern, Un...	ORPHA:2332
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Short stature, Macroscopic ...	ORPHA:251004
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Failure to thrive, Hyperc...	ORPHA:199299
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Dementia, Shuffling gait, Memo...	ORPHA:247234
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo...	ORPHA:911
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Small scrotum, Abnormal hair pattern, Synophrys, Reduced bone mineral densit...	ORPHA:2983
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating gr...	ORPHA:97283
Richieri Costa-Da Silva Syndrome	Short stature, Metatarsus adductus, Limitation of joint mobility, Low anterior hairline, Genu val...	ORPHA:3101
Premature Ovarian Failure 11	Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea	OMIM:616946
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Proximal 16P11.2 Microduplication Syndrome	Sparse eyelashes, Arachnodactyly, Short stature, Sparse eyebrow, Flat face, Micropenis, Failure t...	ORPHA:370079
Trimethylaminuria	Splenomegaly, Hypertension, Tachycardia, Trimethylaminuria	OMIM:602079
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Decreased intestinal transit ti...	OMIM:620045
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c...	OMIM:619381
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Shoulder dislocation, Dislocated radial head, Rhizomelia, Depressed nasal bridge, Spa...	OMIM:245600
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Elevated circulating C-reactive ...	ORPHA:85435
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir...	OMIM:613095
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Micropenis, Hypothyroidism, Self-mutilation, Hepatomegaly, Portal hypertension, ...	OMIM:619487
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Short stature, Cleft palate, Genu valgum, Joint hyperflexibility, Abnormal ...	ORPHA:250984
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	ORPHA:95619
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Maffucci Syndrome	Neoplasm of the adrenal cortex, Short stature, Recurrent fractures, Neoplasm of the parathyroid g...	ORPHA:163634
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated ci...	OMIM:614576
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Microretrognathia, Alo...	OMIM:614008
Lead Poisoning	Decreased HDL cholesterol concentration, Decreased female libido, Skin rash, Small for gestationa...	ORPHA:330015
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Cryptorchidism, Unilambdoid synostosis, Wide nasal bridge, Long eyelashes, Clin...	OMIM:618577
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Round face, Short stature, Coxa valga, Genu valgum, Short phalanx of finger...	OMIM:132450
Non-Distal Duplication 10Q	Depressed nasal bridge, Short stature, Cryptorchidism, Joint hyperflexibility, High palate, Short...	ORPHA:1695
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ...	OMIM:614492
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Macs Syndrome	Joint laxity, Alopecia, Coarse facial features, Hypergonadotropic hypogonadism, Short stature, Sp...	OMIM:613075
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Coarse facial features, Depressed nasal bridge, Prominent nasal bridge, Protruding tongue, Abnorm...	ORPHA:324410
Renal Glucosuria	Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia	OMIM:233100
Wiedemann-Steiner Syndrome	Decreased response to growth hormone stimulation test, Synophrys, Clinodactyly, High palate, Gast...	ORPHA:319182
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o...	ORPHA:90794
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Alopecia, Progressive cervical vertebral spine fu...	OMIM:135100
Shigellosis	Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, C...	ORPHA:810
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Narrow face, Depressed nasal bridge, Camptodactyly of fing...	ORPHA:1529
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Abdominal Obesity-Metabolic Syndrome 1	Hypertension, Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension, Abdominal obesity	OMIM:605572
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li...	OMIM:147750
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro...	OMIM:619858
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypopla...	OMIM:613573
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Renal insufficiency, Short stature, Nephropathy, Hypertrichosis	OMIM:247410
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares...	OMIM:612394
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase con...	ORPHA:732
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Seckel Syndrome 10	Microretrognathia, Ventricular hypertrophy, Diabetes mellitus, Hypertriglyceridemia, Elevated hem...	OMIM:617253
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Campomelic Dysplasia	Anterior tibial bowing, Delayed epiphyseal ossification, Depressed nasal ridge, Patellar hypoplas...	OMIM:114290
Erdheim-Chester Disease	Renal insufficiency, Increased bone mineral density, Hypogonadotropic hypogonadism, Dysuria, Oste...	ORPHA:35687
Intellectual Developmental Disorder, Autosomal Dominant 59	Short stature, Highly arched eyebrow, Short foot, Short palm, Mild short stature, Flat face, Frag...	OMIM:618522
Intellectual Disability-Strabismus Syndrome	Decreased response to growth hormone stimulation test, Prominent nose, Synophrys, High palate, Ga...	ORPHA:363528
Wilson Disease	Hypoparathyroidism, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypouri...	OMIM:277900
Peters-Plus Syndrome	Hypoplasia of the vagina, Bilobate gallbladder, Proximal placement of thumb, Limited elbow moveme...	OMIM:261540
Flat Face-Microstomia-Ear Anomaly Syndrome	Small scrotum, Camptodactyly of finger, Highly arched eyebrow, Underdeveloped nasal alae, Sparse ...	ORPHA:1968
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Hypoalbuminemia, ...	ORPHA:85443
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Abdominal pain, Fe...	OMIM:616809
Renal Hypoplasia, Bilateral	Hyponatremia, Small for gestational age, Proteinuria, Microscopic hematuria, Short stature, Crypt...	ORPHA:97362
Roifman Syndrome	Delayed proximal femoral epiphyseal ossification, Clinodactyly of the 5th finger, Hypogonadotropi...	ORPHA:353298
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Onycholysis, Porphyrinuria	OMIM:176100
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Anosmia, Decreased circulating luteinizing hormone level, Hypoplas...	OMIM:614842
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomer...	OMIM:603278
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Coarse facial features, Radial bowing, Rhizomelia, Depressed nasal bridge, Dumbbell-shaped long b...	OMIM:151210
Ochoa Syndrome	Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Severe short stature, Micromelia, Cryptorchidism, Wide nasal bridge, Sh...	OMIM:224410
Heme Oxygenase 1 Deficiency	Hepatomegaly, Proteinuria, Epistaxis, Elevated circulating C-reactive protein concentration, Diff...	OMIM:614034
Familial Hyperprolactinemia	Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis	ORPHA:397685
Tsh-Secreting Pituitary Adenoma	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Vomiti...	ORPHA:91347
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:79333
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,...	OMIM:206920
Small Cell Carcinoma Of The Bladder	Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia	ORPHA:284400
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogeni...	OMIM:611555
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Osteoporosis, Depressed nasal ridge, Steatorrhe...	OMIM:266510
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Micrognathia, Flexion contracture, Calcinosis, Hepatomegaly, Alopecia, Short clavicle...	OMIM:248370
Familial Visceral Myopathy	Hyperparathyroidism, Hydroureter, Camptodactyly of finger, Joint stiffness, Megacystis, Vesicoure...	ORPHA:2604
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening, Short metatarsal, ...	OMIM:251450
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Maternal diabetes, Missing ribs, Ectop...	ORPHA:3027
Aymé-Gripp Syndrome	Sparse scalp hair, Pericarditis, Asymmetric crying face, Rocker bottom foot, Craniosynostosis, Ta...	ORPHA:1272
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Lymph...	OMIM:209950
Vulto-Van Silfhout-De Vries Syndrome	Joint laxity, Widow's peak, 2-3 toe cutaneous syndactyly, Fine hair, High palate, Horizontal eyeb...	OMIM:615828
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Hyperten...	OMIM:219080
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Hypocalcemia, Hypothyroidism, ...	ORPHA:699
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ...	OMIM:619924
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Syndactyly, Glomerulopathy, Hemolytic-uremic syndrome, Postnatal growth retard...	ORPHA:2169
Cutis Laxa, Autosomal Recessive, Type Iia	Congenital hip dislocation, Brittle hair, Anteverted nares, Abnormality of hair texture, Pachygyr...	OMIM:219200
Infantile Myofibromatosis	Neoplasm of the pancreas, Intestinal obstruction, Hypercalcemia, Abnormal hair morphology, Bone c...	ORPHA:2591
Precocious Puberty, Central, 1	Short stature, Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elev...	OMIM:176400
Attrv30M Amyloidosis	Cardiomegaly, Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Constipation, Arrhyt...	ORPHA:85447
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Glucose intolerance, Increased circulating IgG level, L...	ORPHA:2298
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Ureteral stenosis, Hydroureter, Large for gestational age, Osteoporosis, Hypercalciur...	OMIM:615398
Rhizomelic Dysplasia, Patterson-Lowry Type	Large face, Short humerus, Short metacarpal, Wide nose, Rhizomelia, Depressed nasal ridge, Coxa v...	ORPHA:2831
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Familial Cervical Artery Dissection	Diabetes mellitus, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrh...	ORPHA:36382
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Alopecia, Female hypogonadism, Cholelithiasis, Decreased circulating parathyr...	OMIM:240300
Maxillonasal Dysplasia	Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Depressed nasal r...	ORPHA:1248
Chromosome 10Q26 Deletion Syndrome	Small scrotum, Congenital hip dislocation, Prominent nose, 2-3 toe cutaneous syndactyly, High pal...	OMIM:609625
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Abdominal pain, Leukocyt...	ORPHA:98849
Hip Dysplasia, Beukes Type	Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi...	ORPHA:2114
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ...	OMIM:212050
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti...	OMIM:610475
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Whipple Disease	Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Hepatomegaly, Myocardial infarction, Cac...	ORPHA:3452
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting	OMIM:201710
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Broad femoral neck, Facial asymmetry, Broad nasal tip, Small hand, Wide nasal base, B...	ORPHA:488434
Pleural Mesothelioma	Hepatomegaly, Abnormal cardiovascular system physiology, Weight loss, Lymphadenopathy, Dysphagia	ORPHA:50251
15Q24 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Microphallus,...	ORPHA:94065
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Short stature, Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Long peni...	OMIM:202010
Combined Oxidative Phosphorylation Deficiency 55	Anteverted nares, Elevated circulating creatine kinase concentration, Depressed nasal bridge, Sho...	OMIM:619743
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615271
Partington Syndrome	Macroorchidism, Triangular face	ORPHA:94083
Three M Syndrome 1	Triangular face, Small for gestational age, Hypospadias, Anteverted nares, Depressed nasal bridge...	OMIM:273750
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micro...	OMIM:613848
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal age...	ORPHA:2237
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Increased circulating interleukin 6 concentration, Diabetes melli...	ORPHA:544482
Wild Type Attr Amyloidosis	Hepatomegaly, Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, ...	ORPHA:330001
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Short stature, Anosmia, Epiphyseal stippling, Hypogonadism, Short nose, S...	OMIM:302950
Dysostosis, Stanescu Type	Narrow nasal bridge, Bowing of the long bones, Increased bone mineral density, Short stature, Con...	ORPHA:1798
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Anteverted nares, Depressed nasal bridge, Short sta...	ORPHA:1458
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Postaxial hand polydactyly, Stage 5 chronic kidney disease, ...	OMIM:243910
Cholera	Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypo...	ORPHA:173
Focal Segmental Glomerulosclerosis 5	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi...	OMIM:613237
Panhypophysitis	Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Polydipsia, Reduced ...	ORPHA:95513
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Intracranial hemorrhage, Hypocalcemia, Atrial septal def...	ORPHA:163979
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abdominal distention, Diarrhea, Weight loss, Hematoch...	ORPHA:103910
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati...	ORPHA:324964
Omodysplasia 2	Clitoral hypoplasia, Gastroesophageal reflux, Limited elbow flexion, Clinodactyly of the 5th fing...	OMIM:164745
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating...	ORPHA:36234
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Round face, Hypopigmentation of hair, Hypospadias, Anteverted nares, Short stature, Depressed nas...	ORPHA:1355
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Hyperconvex nail, Tapered finger, Flexion contracture, In...	OMIM:613870
Trichothiodystrophy	Osteopenia, Congenital exfoliative erythroderma, Ridged nail, Brittle hair, Multiple joint contra...	ORPHA:33364
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Sudd...	OMIM:201475
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Vomiting, Nausea, ...	ORPHA:85450
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula...	OMIM:301074
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re...	OMIM:617610
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa...	OMIM:129500
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Hypospadias, Overlapping toe, Highly arched eyebrow, Prominent nose, Anteverted nares, ...	OMIM:618316
Oculocerebrocutaneous Syndrome	Alopecia, Congenital hip dislocation, Cleft ala nasi, Cryptorchidism, Cleft palate, Gray matter h...	OMIM:164180
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis	OMIM:607832
Mesomelic Dysplasia, Savarirayan Type	Short stature, Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short ...	OMIM:605274
Hereditary Sensory And Autonomic Neuropathy Type 2	Tapered finger, Osteolysis, Foot acroosteolysis, Hyperhidrosis, Reduced bone mineral density, Abn...	ORPHA:970
Orofaciodigital Syndrome Xv	Broad hallux, Anteverted nares, Postaxial hand polydactyly, Duplication of phalanx of hallux, Wid...	OMIM:617127
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa...	ORPHA:1772
Intellectual Disability And Myopathy Syndrome	Congenital hip dislocation, Broad nasal tip, Achilles tendon contracture, Atopic dermatitis, Limi...	OMIM:619719
Liddle Syndrome	Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia	ORPHA:526
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Pericarditis, Elevated circulating C-reactive protein ...	ORPHA:767
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Short stature, Micromelia, Limitation of joint mobility, Abnormality of n...	ORPHA:93274
Beta-Thalassemia Intermedia	Hypoparathyroidism, Osteopenia, Diabetes mellitus, Osteoporosis, Reduced bone mineral density, In...	ORPHA:231222
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Congestive h...	ORPHA:31826
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious...	ORPHA:369837
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Extramedullary hematopoiesis, Short stature, Pancytopenia, Thromb...	OMIM:259720
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of hai...	ORPHA:667
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Prominent nasal bridge, Short stature, High palate, Prominent fingertip pads, S...	OMIM:300558
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility...	ORPHA:572333
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Abnormal hair whorl, Fasting hyperinsulinemia, Reduced bone...	ORPHA:79474
Acromicric Dysplasia	Abnormal eyebrow morphology, Short metacarpal, Round face, Anteverted nares, Severe short stature...	ORPHA:969
Werner Syndrome	Myocardial infarction, Abnormal hair whorl, Premature graying of hair, Thyroid carcinoma, Renal n...	ORPHA:902
Raine Syndrome	Increased bone mineral density, Bowing of the long bones, Depressed nasal bridge, Choanal atresia...	OMIM:259775
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Anteverted nares, Intestinal malrotation, Highly arched eyebrow, Short stature, Synop...	OMIM:614701
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ...	OMIM:614324
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Polyembryoma	Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Elevated circulati...	ORPHA:180229
Peters Plus Syndrome	Micromelia, Clitoral hypoplasia, Clinodactyly of the 5th finger, Spina bifida occulta, Long face,...	ORPHA:709
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, T lymphocytopenia, Patent foramen ovale, Infectious encephalitis, Autoimmune thr...	ORPHA:391487
Schimke Immuno-Osseous Dysplasia	Nephropathy, Intrauterine growth retardation, Nephrotic range proteinuria, Short stature, Minimal...	ORPHA:1830
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Micrognathia, Postnatal growth retardation, Precocious puberty, Acromicria, Small hand, Obesity, ...	ORPHA:254525
Isochromosomy Yq	Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc...	ORPHA:98798
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Prominent fingertip pads, Small for gestational age, Short stature, Postnatal growth retardation,...	ORPHA:231137
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Absent or minimally ossified vertebral bodies, Neonatal short-limb ...	OMIM:600972
Intellectual Developmental Disorder, Autosomal Recessive 45	Coarse facial features, Round face, Anteverted nares, Highly arched eyebrow, Synophrys, Bulbous n...	OMIM:615979
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas...	OMIM:615954
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Osteoporosis, Obesity, Increased circulating ACTH level, Nephrolithiasis, Hype...	OMIM:219090
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Delayed proximal femoral epiphyseal ossification, Metaphyseal widening, Flexion contracture, High...	OMIM:271640
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra...	ORPHA:411696
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Hypospadias, Bilateral cryptorchidism, Erythroderma, Micropenis	OMIM:618840
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Short humerus, Elevated hepatic transaminase, Short femur, Hypospadias, A...	ORPHA:17
Insulin-Like Growth Factor I Deficiency	Osteopenia, Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating gro...	OMIM:608747
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:161950
Blepharocheilodontic Syndrome 1	Choanal atresia, Clinodactyly, Cutaneous syndactyly, Small nail, Nail dysplasia, Sparse hair, Hig...	OMIM:119580
9Q31.1Q31.3 Microdeletion Syndrome	Short stature, Thick hair, Highly arched eyebrow, Tapered finger, Overweight, Broad nasal tip, Sm...	ORPHA:401923
Prader-Willi Syndrome	Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim...	ORPHA:739
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Severe short stature, High, narrow palate, Submucous cleft hard p...	ORPHA:2780
Pulmonary Blastoma	Recurrent pneumonia, Weight loss	ORPHA:64741
Bronchial Neuroendocrine Tumor	Abnormal pulmonary valve cusp morphology, Anorexia, Poor appetite, Hepatomegaly, Tricuspid regurg...	ORPHA:97287
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Reduced bone mineral density, Tibial bowing, High palate, Hypoplastic iliac wing, Abno...	ORPHA:93315
Adenine Phosphoribosyltransferase Deficiency	Abnormal circulating enzyme concentration or activity, Renal insufficiency, Atrial fibrillation, ...	ORPHA:976
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Postnatal growth retardation, Metaphyseal widening...	OMIM:608940
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	High palate, Bifid uvula, Anteverted nares, Depressed nasal bridge, Short stature, Precocious pub...	ORPHA:96184
Congenital Generalized Lipodystrophy	Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in females, Diabetes m...	ORPHA:528
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Tricuspid regurgitation, Short fourth metatarsal, Short fifth metatarsal, Clinodactyly ...	OMIM:261990
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Arachnodactyly, Short stature, Cachexia, Joint stiffness	ORPHA:1144
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Weight loss, Hematuria, Hypertension, Internal hemorrhage	ORPHA:69077
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level	OMIM:609529
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Pneumonia, External genital hypoplasia, Tapered finge...	ORPHA:1867
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Severe short stature, Cryptorchidism, Congenital pyloric atresia, Hyperhi...	ORPHA:2617
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Diarrhea, Flexion contracture, Osteoporosis, Osteol...	OMIM:228600
Grange Syndrome	Aortic regurgitation, Syndactyly, Ventricular septal defect, Increased susceptibility to fracture...	ORPHA:79094
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Hypertension, Nephrotic syndrome, Nephropathy	OMIM:105200
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE ...	OMIM:304790
Primary Hyperoxaluria	Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Generalized osteos...	ORPHA:416
Larsen Syndrome	Joint laxity, Vertebral fusion, Short metacarpal, Depressed nasal bridge, Short nail, Spatulate t...	OMIM:150250
Primary Hepatic Neuroendocrine Carcinoma	Intrahepatic cholestasis with episodic jaundice, Anorexia, Elevated carcinoembryonic antigen leve...	ORPHA:100085
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertensi...	OMIM:615980
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Short stature, Postnatal growth retardation, Low anterior hairline, Os...	ORPHA:73272
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Prominent nose, High, narrow palate, Low anterior hairline, Moon facies, Gastroesophageal reflux,...	OMIM:619950
Proteus-Like Syndrome	Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries	ORPHA:2969
Carney Complex	Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi...	ORPHA:1359
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Hypertension, Transient ischemic attack	OMIM:616779
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Hypogonadism, Osteoporosis	OMIM:615270
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Small for gestational age, Abnormal external genitalia, Short stature, Postnatal growth retardati...	ORPHA:231140
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Feeding difficulties...	ORPHA:3282
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland...	ORPHA:64744
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Linear Iga Dermatosis	Inflammation of the large intestine, Epistaxis	ORPHA:46488
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Abnormal hand bone ossifi...	OMIM:200600
Fibrochondrogenesis 1	Hypoplastic toenails, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, R...	OMIM:228520
Postencephalitic Parkinsonism	Resting tremor, Oculogyric crisis, Akinesia, Depression, Bradykinesia, Paresthesia, Tremor by ana...	ORPHA:97349
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca...	ORPHA:439232
Mandibuloacral Dysplasia	Alopecia, Hypertriglyceridemia, Micrognathia, Increased circulating free fatty acid level, Postna...	ORPHA:2457
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Postnatal growth retardation, Cryptorchidism, Joint contracture, Gastroesophageal r...	OMIM:615419
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Small scrotum, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Cry...	ORPHA:228390
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Small intestinal dysmot...	ORPHA:298
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Abnormal femu...	ORPHA:324
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Flexion contracture, Bifid uvula, Dislocated radial head, Long toe, Joint laxity, Ara...	OMIM:130070
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Severe short stature, Choanal atresia, Absent eyelashes, Preaxial hand ...	ORPHA:2316
Prolactinoma	Osteopenia, Vomiting, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased f...	ORPHA:2965
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hyperphosphaturia, Short stature, Coxa valga, Genu valgum, Elevated circulating alkaline phosphat...	OMIM:613312
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr...	ORPHA:276621
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism, Short stature, Obesity	ORPHA:3077
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia...	ORPHA:453533
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Osteoporosis	OMIM:204730
Peroxisome Biogenesis Disorder 12A (Zellweger)	Short stature, Prominent nose, Wide anterior fontanel, Elevated circulating long chain fatty acid...	OMIM:614886
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Aplasia/Hypoplasia of the clavicles, Alopecia, Short stature, Abnormal fingertip morp...	ORPHA:90154
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi...	ORPHA:3429
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Choanal atresia, Short stature, Cryptorchidism, Small hand, Clef...	OMIM:300712
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Microlissencephaly-Micromelia Syndrome	Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Fail...	ORPHA:50810
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Brittle hair, Micrognathia, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperi...	OMIM:608612
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Limited elbow extension and supination, Prominent nasal bridge, Intestinal malrotat...	ORPHA:401935
C Syndrome	Micromelia, Clinodactyly, High palate, Dislocated radial head, Short metacarpal, Anteverted nares...	OMIM:211750
Alagille Syndrome	Hypoplasia of the ulna, Round face, Coarse facial features, Long nose, Cryptorchidism, Spina bifi...	ORPHA:52
Dyskeratosis Congenita	White hair, Anorectal anomaly, Hyperhidrosis, Premature graying of hair, Periodontitis, Sparse ha...	ORPHA:1775
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Postural tremor, Unsteady gait, Impaired proprioception, Hand tremor, Limb ataxia, Memo...	ORPHA:412057
X-Linked Intellectual Disability, Shashi Type	Macroorchidism, Bulbous nose, Coarse facial features, Obesity	ORPHA:85286
Hennekam Syndrome	Finger syndactyly, Depressed nasal bridge, Camptodactyly of finger, Sparse axillary hair, Cranios...	ORPHA:2136
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Anteverted nares, Synophrys, Hydrocele testis, Protein-losing enteropathy, Flat face	OMIM:618154
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Elevated circulating creatine kinase concentration, Limited elbow mov...	OMIM:300280
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c...	ORPHA:69126
Chromosome 6Q11-Q14 Deletion Syndrome	Joint laxity, Short stature, Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchidism, L...	OMIM:613544
Filippi Syndrome	Underdeveloped nasal alae, 2-4 toe syndactyly, Cryptorchidism, Low hanging columella, Postnatal g...	OMIM:272440
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Nail dystrophy, Abnormally low T cell receptor excision circle level	OMIM:618806
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Akinesia, Dementia, Limb dystonia, Mental deterioration	OMIM:616840
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Sparse scalp hair, Abnormal fingernail morphology, Anteverted nares, Short stature, Hypoplastic t...	ORPHA:2701
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal...	OMIM:614473
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, ...	ORPHA:369
Mosaic Monosomy X	Osteopenia, Hypoplastic toenails, High, narrow palate, Reduced bone mineral density, Gastrointest...	ORPHA:99228
Monosomy X	Osteopenia, Hypoplastic toenails, High, narrow palate, Reduced bone mineral density, Gastrointest...	ORPHA:99226
Turner Syndrome	Osteopenia, Hypoplastic toenails, High, narrow palate, Reduced bone mineral density, Gastrointest...	ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Hypoplastic toenails, High, narrow palate, Reduced bone mineral density, Gastrointest...	ORPHA:99413
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Prematur...	ORPHA:398079
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Secre...	OMIM:619573
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Round face, Depressed nasal bridge, Short stature, Cryptorchidism, Bulbous nose, Low ...	ORPHA:369891
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Anteverted nares, Craniosynostosis, Micromelia, De...	ORPHA:93329
Meier-Gorlin Syndrome 3	Small scrotum, Coxa vara, Patellar hypoplasia, Gastroesophageal reflux, Micropenis, Genu varum, A...	OMIM:613803
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Spermatogenic Failure 17	Male infertility	OMIM:617214
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Acquired Generalized Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Proteinuria, Insulin-resistant...	ORPHA:79086
Cornelia De Lange Syndrome 2	Thick eyebrow, Short stature, Highly arched eyebrow, Micrognathia, Proximal placement of thumb, P...	OMIM:300590
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Congenital Disorder Of Glycosylation, Type Ii	Joint laxity, Short stature, Diarrhea, Wide nasal bridge, High palate, Gastroesophageal reflux, D...	OMIM:607906
Castleman Disease	Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Generaliz...	ORPHA:160
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Coarse facial features, Decreased response to growth hormone stimulation test, Tap...	ORPHA:485405
Hereditary Central Diabetes Insipidus	Growth delay, Polydipsia, Diabetes insipidus, Weight loss	ORPHA:30925
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le...	OMIM:615513
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex...	ORPHA:507
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, In...	ORPHA:3260
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating gr...	ORPHA:97280
Chromosome 5Q12 Deletion Syndrome	Long toe, Coarse facial features, Decreased body mass index, Prominent nose, Postnatal growth ret...	OMIM:615668
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Congenital hip dislocation, Micromelia, Bilateral renal hypoplasia, ...	ORPHA:508488
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Small for gestational age, External genital hypoplasia, Cleft palate, Hyperhidrosis, Clinodactyly...	ORPHA:231147
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Convex nasal ridge, Proximal placement of thumb, Micromelia, Cry...	ORPHA:3121
Diffuse Neonatal Hemangiomatosis	Renal insufficiency, Abnormal vagina morphology, Hypercalcemia, Renal hypoplasia/aplasia	ORPHA:2123
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Pulmonary embolism, ...	ORPHA:567548
Glutaric Aciduria Iii	Hyperthyroidism, Glutaric aciduria, Hypertension, Reduced peroxisomal glutaryl-CoA oxidase activi...	OMIM:231690
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Round face, Short stature, Wide nasal bridge, Growth delay, Talipes equinovarus, Camptodactyly, C...	OMIM:617333
Al-Raqad Syndrome	Joint laxity, Sandal gap, Chronic constipation, Short nose, Flat face, Brachydactyly	OMIM:616459
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Aplasia of the nasal bone, Streak ovary, Hypospadias, Jejunal atresia, Ileal atresia,...	OMIM:618820
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia, Ulnar deviation of the hand, Hypogonadotropic hypogonadism, Short stature, Limb joint c...	OMIM:612079
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc...	OMIM:615190
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice...	ORPHA:858
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Camptodactyly of finger, Prominent nasal bridge, Tapered finger, Cryptorchidism, P...	ORPHA:85279
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Femoral bo...	OMIM:602111
Metatropic Dysplasia	Severe short stature, Depressed nasal bridge, Camptodactyly of finger, Micromelia, Abnormal encho...	ORPHA:2635
Diarrhea 6	Chronic diarrhea, Crohn's disease, Abdominal pain	OMIM:614616
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom...	ORPHA:444463
Neuroendocrine Neoplasm Of Appendix	Anorexia, Poor appetite, Adenocarcinoma of the colon, Hepatomegaly, Abdominal colic, Functional i...	ORPHA:100079
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Premature graying of hair, Anteriorly placed anus, High palate, Short...	OMIM:268400
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Nausea and vomiting, Pancreatic adenocarcinoma, Diabetes mellitus,...	ORPHA:1333
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Syndactyly, Hypospadias, Dysmenorrhea, Small for gestational age, Postnatal growth...	ORPHA:397590
Trisomy 12P	Short stature, Supernumerary nipple, Wide nasal bridge, Cleft palate, Large hands, Clinodactyly o...	ORPHA:1699
Bloom Syndrome	Narrow face, Paronychia, Uveitis, Gastroesophageal reflux, Otitis media, Stomach cancer, Decrease...	ORPHA:125
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia, Ataxia, Gait apraxia, Dysmetria, Dementia, Gait disturbance	OMIM:600142
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Vascu...	OMIM:617718
Robinow Syndrome, Autosomal Dominant 1	Clitoral hypoplasia, High palate, Short palm, Micropenis, Duplication of the distal phalanx of ha...	OMIM:180700
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen...	ORPHA:2890
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated jugu...	ORPHA:465508
Syndromic Diarrhea	Villous atrophy, Bicuspid aortic valve, Bloody diarrhea, Colitis, Hypoplasia of the thymus, Atria...	ORPHA:84064
Stiff Skin Syndrome	Short stature, Limitation of joint mobility, Nephrolithiasis, Hypertension, Type II diabetes mell...	ORPHA:2833
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Hyperinsulinemia, Hypertension, Generalized hi...	ORPHA:363400
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l...	ORPHA:399808
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Adrenal hypoplasia, Micrognathia, Absent middl...	OMIM:308050
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista...	OMIM:604367
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Pes planus, Hypercalcemia, Urinary incontinence, Micrognathia, Unilateral radial aplasia, Tapered...	ORPHA:476126
Proteus Syndrome	Neoplasm of the thymus, Abnormal finger morphology, Renal cyst, Clinodactyly of the 5th finger, T...	ORPHA:744
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Small for gestational age, Sparse facial hair, Sparse axillary hair, Short stature, G...	OMIM:608154
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr...	ORPHA:29072
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic d...	ORPHA:65682
Cebalid Syndrome	Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Depressed nasal ridge, High pala...	OMIM:618774
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Alopecia, Hyperphosphaturia, Short stature, Recurrent fractures, Abnormal toe morphol...	OMIM:163200
Osteopetrosis With Renal Tubular Acidosis	Abnormal circulating enzyme concentration or activity, Hepatomegaly, Short stature, Elevated circ...	ORPHA:2785
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Prominent fingertip pads, Diabetes mellitus, Recurrent skin infections, Decreased serum iron, Bro...	ORPHA:391372
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Pseudopseudohypoparathyroidism	Short metacarpal, Short stature, Short metatarsal, Pseudohypoparathyroidism, Obesity, Osteoporosi...	OMIM:612463
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Cachexia, Malabsorption, Anorexia, Splenomegaly, Abdominal pa...	ORPHA:2930
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Small scrotum, Camptodactyly of finger, Abnormal hair pattern, Highly arched...	ORPHA:2083
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c...	OMIM:602088
Monosomy 22	Finger syndactyly, Wide nose, Aplasia of the thymus, Seborrheic dermatitis, Synophrys, Clubbing, ...	ORPHA:96123
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Brachydactyly, Hypospadias, Bowed humerus, Depressed nasal bridge,...	OMIM:619479
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Myocardial infarction, Abdominal pain, Intestinal perforation, Thrombocytopenia,...	ORPHA:90038
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Sple...	OMIM:618935
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Anorexia, Large vessel vasculitis, Pedal e...	ORPHA:49041
Marshall Syndrome	Sparse eyelashes, Anteverted nares, Depressed nasal bridge, Short stature, Sparse eyebrow, Osteoa...	ORPHA:560
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Foot oligodactyly, Amelia	OMIM:601357
Larsen-Like Syndrome	Joint laxity, Short stature, Wide anterior fontanel, Cleft palate, Absent nasal bridge, Talipes e...	OMIM:608545
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia	ORPHA:346
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Abnormal left ventri...	OMIM:540000
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, P...	ORPHA:90790
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Hypertension	ORPHA:79084
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Narrow nasal ridge, Underdeveloped nasal alae, Cryptorchidism, Pyloric stenosis, Flex...	OMIM:614438
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Autoimmunity, Elevated c...	ORPHA:158061
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormality of the spleen, Tracheoesophageal fistula, Abnormal cardiac septum morpholog...	ORPHA:93941
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Biliary hyperplasia, Coarse hair, Choanal stenosis, Micropenis, Pancreatic hypopla...	ORPHA:83617
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ...	OMIM:617595
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Round face, Hypospadias, Depressed nasal bridge, Focal polymicrogyria, Cryptorchidism, Bulbous no...	OMIM:619103
Porphyria Variegata	Hyponatremia, Elevated hepatic transaminase, Tachycardia, Neurogenic bladder, Abnormal circulatin...	ORPHA:79473
Spermatogenic Failure 24	Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce...	OMIM:617959
Osteoglophonic Dysplasia	Osteopenia, Hypoplastic toenails, Short metatarsal, High palate, Short palm, Short phalanx of fin...	OMIM:166250
Chromosome 19Q13.11 Deletion Syndrome, Distal	Bifid scrotum, Hypospadias, Sparse eyelashes, Overlapping toe, Anteverted nares, Sparse eyebrow, ...	OMIM:613026
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Narrow face, Synophrys, Low anterior hairline, Sparse hair, Abnormal facial shape, Hypothyroidism...	ORPHA:391408
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Liver Disease, Severe Congenital	Dry hair, Micrognathia, Biliary hyperplasia, Cardiomegaly, Abnormal left ventricular function, Am...	OMIM:619991
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Mucolipidosis Type Iii	Craniofacial hyperostosis, Coarse facial features, Acne, Short stature, Joint stiffness, Cleft pa...	ORPHA:577
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
16P11.2P12.2 Microdeletion Syndrome	Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Short sta...	ORPHA:261211
Mpi-Cdg	Gastrointestinal hemorrhage, Abnormal circulating enzyme concentration or activity, Hepatomegaly,...	ORPHA:79319
Silver-Russell Syndrome Due To 11P15 Microduplication	Short stature, Small for gestational age, Postnatal growth retardation, Severe intrauterine growt...	ORPHA:231144
Schnitzler Syndrome	Arthritis, Increased bone mineral density	ORPHA:37748
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171420
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Subperiosteal bone formation, Osteosclerosis of the base of the skull	OMIM:609993
Silver-Russell Syndrome 3	Syndactyly, Unilateral cryptorchidism, Small for gestational age, Short stature, Elbow contractur...	OMIM:616489
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism	OMIM:300886
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Short stature, Hypertension, Patchy alopecia, Broad distal phalanx of finger, Sparse hair, Hypoth...	OMIM:617763
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Short stature, Ventricular septal defect, Postaxial hand polydactyly, Abn...	ORPHA:75389
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn...	ORPHA:563
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Cryptorchidism, Squared ili...	OMIM:616300
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:212140
Monosomy 18P	Alopecia, Short stature, Micrognathia, Low posterior hairline, Hypertension, Webbed neck, Hypothy...	ORPHA:1598
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Obesity, Reduced circulating prolactin concentration	OMIM:264120
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification	OMIM:215045
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Cryptorchidism, Osteoporosis, Anosmia, Primary amenorrhea, Genu valgum, Cleft palate,...	OMIM:614880
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Joint stiffness, Congestive heart failure, O...	ORPHA:1345
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Micrognathia, Short metatarsal, Renal cyst, Nephronophthisis, C...	OMIM:266920
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Short stature, Hyperlipidemia, Osteopor...	OMIM:232200
Phocomelia, Schinzel Type	Hypoplasia of penis, Micromelia, High, narrow palate, Abnormal tibia morphology, Foot oligodactyl...	ORPHA:2879
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux...	ORPHA:183
Omodysplasia 1	Short humerus, Increased fibular diameter, Rhizomelia, Depressed nasal bridge, Limited knee flexi...	OMIM:258315
Seizures-Scoliosis-Macrocephaly Syndrome	Overlapping toe, Cryptorchidism, Bulbous nose, Reduced bone mineral density, Gastroesophageal ref...	ORPHA:466926
Teebi Hypertelorism Syndrome 1	Anteverted nares, Depressed nasal bridge, Sagittal craniosynostosis, Highly arched eyebrow, Short...	OMIM:145420
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Equinus calcaneus, Shoulder dislocation, Periodontitis, High palate, Abnormal facial ...	ORPHA:536532
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Sparse scalp hair, Long toe, Sparse eyelashes, Arachnodactyly, Short stature, Sparse ...	ORPHA:75496
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Diabetes mellitus, Hypertriglyceridemia, Maternal di...	ORPHA:79083
Netherton Syndrome	Decreased circulating IgG level, Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin i...	OMIM:256500
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Severe short stature, Protrusio acetabuli, Autoimmunity, Abnormal femoral head morpho...	ORPHA:2619
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Proteinuria, Decreased response to growth hormone stimulation test, Short ...	ORPHA:1855
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Ventricular septal defect, Cryptorchidism, Genu valgum, Growth delay, Frontal upswee...	OMIM:617798
Bangstad Syndrome	Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Deviat...	ORPHA:1227
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Hyperten...	OMIM:615238
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Nausea and vomiting, Testicular neoplasm, Cachexia, Abdom...	ORPHA:83469
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Alopecia, Decreased circulating ceruloplasmin concentration, Decre...	OMIM:242150
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim...	ORPHA:177904
Prader-Willi Syndrome	Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim...	OMIM:176270
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Short stature, Joint stiffness, Postnatal growth retardation, Splenomegaly, Reduced ...	OMIM:620210
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Hypogonadism, Osteoporosis	OMIM:615267
Zinc Deficiency, Transient Neonatal	Decreased serum zinc, Alopecia	OMIM:608118
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co...	ORPHA:160148
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex...	OMIM:400045
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short stature, Low posterior hairline, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the ...	ORPHA:2578
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas...	OMIM:614878
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Avascular necrosis of the capital f...	ORPHA:247691
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	ORPHA:361
Holocarboxylase Synthetase Deficiency	Lethargy, Alopecia, Ataxia, Irritability	ORPHA:79242
Ane Syndrome	Alopecia, Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior p...	ORPHA:157954
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ...	ORPHA:85327
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Short stature, Avascular necrosis of the capital femoral epiphysis, Cryptorchidism, Ost...	OMIM:613990
Bresek Syndrome	Alopecia, Aganglionic megacolon, Convex nasal ridge, Cryptorchidism, Postaxial hand polydactyly, ...	ORPHA:85284
Omenn Syndrome	Alopecia, Pneumonia, Autoimmunity, Pruritus, Short toe, Chronic diarrhea, Thyroiditis, Erythroder...	ORPHA:39041
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Exocrine pancreatic insuffi...	OMIM:137920
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depressed nasal bridge, Choan...	ORPHA:87
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Short stature, Proximal femoral metaphyseal irregularity, Recurrent pneumonia, Dispro...	OMIM:602271
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Wide nose, Decreased circulating osteocalcin level, Short nose, Central diabetes insi...	OMIM:125700
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Autoimmunity, Anti-thyroid peroxidase antibody positivity, Increased circulating IgE level, T lym...	ORPHA:277
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ...	OMIM:618999
Flynn-Aird Syndrome	Alopecia, Cachexia, Joint stiffness, Abnormality of the thyroid gland, Bone cyst, Primary adrenal...	ORPHA:2047
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation	OMIM:261550
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter...	ORPHA:3243
Weismann-Netter Syndrome	Severe short stature, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibula...	OMIM:112350
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow...	OMIM:619503
Smith-Magenis Syndrome	Synophrys, Gastroesophageal reflux, Clinodactyly of the 5th finger, Chronic otitis media, Hypothy...	ORPHA:819
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia	ORPHA:33111
Epiphyseal Dysplasia, Baumann Type	Joint laxity, Epiphyseal dysplasia, Carpal bone aplasia, Pes planus, Hypoplasia of the femoral he...	OMIM:610797
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ...	OMIM:250790
Ollier Disease	Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Abnormal m...	ORPHA:296
Hereditary Late-Onset Parkinson Disease	Resting tremor, Akinesia, Depression, Bradykinesia, Dementia, Shuffling gait, Low frustration tol...	ORPHA:411602
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ...	OMIM:119500
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Anteverted nares, Postnatal growth retardation, Metaphyseal widening, Dysphagia, Generalized bone...	ORPHA:73230
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Anteverted nares, Pneumonia, Depressed nasal bridge, Protruding tongue, Malabsorption,...	OMIM:242860
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Femoral bowing, Anteriorly displaced genitalia, Foot oligodactyly, High palate, Ap...	OMIM:276820
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B ...	ORPHA:3261
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht...	OMIM:606966
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Villo...	OMIM:606367
Aa Amyloidosis	Hepatomegaly, Malabsorption, Abdominal pain, Chronic diarrhea, Malnutrition, Abnormal heart morph...	ORPHA:85445
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hyp...	ORPHA:77297
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Osteopenia, Metaphyseal dysplasia, Severe short stature, Hypospadias, Eczema, Decreased response ...	OMIM:618336
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	ORPHA:90003
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Feeding difficulties, Reduced left ventricular ejection f...	OMIM:614096
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Small for gestational age, Hypospadias, Anteverted nares, Gastroparesis, Cryptorchidism, Wide nas...	OMIM:614052
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased circula...	OMIM:618048
Stickler Syndrome, Type Iv	Epiphyseal dysplasia, Short stature, Flat capital femoral epiphysis, Genu valgum, Irregular capit...	OMIM:614134
Caroli Disease	Cholangiocarcinoma, Hepatomegaly, Cholangitis, Portal hypertension, Anorexia, Abdominal pain, Spl...	ORPHA:53035
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Short stature, Recurrent fractures, Femoral bowing, Increased susceptibility to fract...	OMIM:615066
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Anorexia, Gastrointestinal inflammation, U...	ORPHA:48435
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim...	ORPHA:98754
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Short stature, Small hand, Decreased circulating antibody l...	ORPHA:1445
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,...	ORPHA:679
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Cryptorchidism, Triangular face, Fine hair	ORPHA:1174
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p...	OMIM:274000
Alazami Syndrome	Wide nose, Severe short stature, Depressed nasal bridge, Wide nasal bridge, Retractile testis, De...	OMIM:615071
Classic Galactosemia	Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ...	ORPHA:79239
Lowry-Maclean Syndrome	Osteopenia, Hypospadias, Choanal atresia, Craniosynostosis, Bilateral cryptorchidism, High, narro...	ORPHA:2409
Silver-Russell Syndrome	Hyperhidrosis, Abnormal appendicular skeleton morphology, Gastroesophageal reflux, Clinodactyly o...	ORPHA:813
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Diabetes mellitus, H...	ORPHA:93111
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A...	OMIM:615508
Orofaciodigital Syndrome Iv	Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polyda...	OMIM:258860
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Small for gestational age, Ventricular septal defect, Hematuria, Hypertension, ...	OMIM:617021
Adrenoleukodystrophy	Alopecia, Limb ataxia, Dementia, Attention deficit hyperactivity disorder, Truncal ataxia, Mental...	OMIM:300100
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:42
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Cervi...	ORPHA:2686
Fetal Hydantoin Syndrome	Bifid scrotum, Hypoplastic fingernail, Short stature, Cryptorchidism, Depressed nasal ridge, Clef...	ORPHA:1912
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Joint laxity, Pes planus, Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior,...	ORPHA:449291
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:86893
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increase...	ORPHA:398069
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair, Abnormal heart morphology	ORPHA:1067
Microcephaly 20, Primary, Autosomal Recessive	Short stature, Simplified gyral pattern, Microlissencephaly, Hypoplasia of the uterus, Intrauteri...	OMIM:617914
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Lenz-Majewski Hyperostotic Dwarfism	External genital hypoplasia, Epispadias, High, narrow palate, Abnormal finger morphology, Symphal...	ORPHA:2658
Ring Chromosome 7 Syndrome	Low anterior hairline, Clinodactyly of the 5th finger, Bifid uvula, Median cleft palate, Hypospad...	ORPHA:1449
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim...	ORPHA:98793
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Large for gestational age, Micrognathia, Flexion contracture, Tibial bowing, Hypoplastic iliac wi...	ORPHA:96334
Pearson Marrow-Pancreas Syndrome	Pancreatic fibrosis, Small for gestational age, Hypercalciuria, 3-Methylglutaric aciduria, Renal ...	OMIM:557000
Ichthyosis With Confetti	Short stature, Pruritus, Clubbing, Erythroderma, Palmoplantar hyperkeratosis, Hypoplastic nipples...	OMIM:609165
Microphthalmia, Syndromic 9	Severe short stature, Short stature, Cryptorchidism, Wide nasal bridge, Hypoplasia of the uterus,...	OMIM:601186
Bainbridge-Ropers Syndrome	Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Choanal stenosis,...	OMIM:615485
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce...	OMIM:613239
Hemifacial Atrophy, Progressive	Patchy alopecia, Ataxia, Poliosis	OMIM:141300
Kury-Isidor Syndrome	Finger syndactyly, Alopecia, Brachydactyly, Ventricular septal defect, Rocker bottom foot, Proxim...	OMIM:619762
Luscan-Lumish Syndrome	Short stature, Long nose, Irregular menstruation, Advanced ossification of carpal bones, Obesity,...	OMIM:616831
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Short stature, Facial asymmetry, Wide nasal bridge, Symphalangi...	ORPHA:710
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypertension, Cardiomyopathy, Hyperuricemia, Arrhythmia	ORPHA:3222
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Celiac disease, Ab...	ORPHA:186
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Cra...	OMIM:251230
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo...	OMIM:603909
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Feeding difficulties in infancy, Thymus hyperplasia	OMIM:619036
Developmental And Epileptic Encephalopathy 89	Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Sparse eyebrow, Hypoplastic labi...	OMIM:619124
Gm1-Gangliosidosis, Type Ii	Coarse facial features, Coxa valga, Protruding tongue, Joint stiffness, Dysphagia, Limb undergrow...	OMIM:230600
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Immunodeficiency 58	Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ...	OMIM:618131
Warburg Micro Syndrome 3	Small scrotum, Postnatal growth retardation, Hypoplastic labia minora, Flexion contracture, Low a...	OMIM:614222
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Renal cyst, Hypop...	OMIM:208500
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Bifid scrotum, Hypoplasia of penis, Brachydactyly, Hypogonadotropic hypogonadism, Joint stiffness...	ORPHA:1295
Orofaciodigital Syndrome Ix	Toe syndactyly, Short stature, Hand polydactyly, Camptodactyly, Short tibia	OMIM:258865
Cocaine Intoxication	Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,...	ORPHA:90068
Smith-Kingsmore Syndrome	Curly hair, Rhizomelia, Depressed nasal bridge, Large for gestational age, Short proximal phalanx...	OMIM:616638
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level	OMIM:616576
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hypoalbuminemi...	ORPHA:171
Tetrasomy 5P	Coarse facial features, Overlapping toe, Anteverted nares, Short hallux, Postnatal growth retarda...	ORPHA:3309
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Hypospadias, Arachnodactyly, Sandal gap, Intestinal malrotation, L...	OMIM:617602
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, I...	ORPHA:347
Johanson-Blizzard Syndrome	Alopecia, Hypoplasia of penis, Hypospadias, Failure to thrive, Abnormal hair pattern, Diabetes me...	ORPHA:2315
Wolf-Hirschhorn Syndrome	Hyperconvex fingernails, Gastroesophageal reflux, Short stature, Intrauterine growth retardation,...	OMIM:194190
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Elevated circulating thyroid-stimulating hormone concentration, Abnormal drin...	ORPHA:209905
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag...	OMIM:620356
Baraitser-Winter Syndrome 1	Anteverted nares, Short stature, Highly arched eyebrow, Pachygyria, Cryptorchidism, Duplication o...	OMIM:243310
Hamamy Syndrome	Osteopenia, Hypoparathyroidism, Syndactyly, Long toe, Sparse eyelashes, Recurrent fractures, Cran...	OMIM:611174
Menke-Hennekam Syndrome 1	Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of toes, High palate, Gastroesop...	OMIM:618332
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Flexion contracture, Hip dysplasia, Short nose, Failure to thrive	OMIM:618379
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Brachydactyly, Acne, Short stature, Bowing of the legs, Secondary amenorrhea, Lower limb undergro...	OMIM:612847
Congenital Myopathy 8	Feeding difficulties in infancy, Congestive heart failure, High palate, Cardiomegaly	OMIM:618654
Ohdo Syndrome, X-Linked	Small scrotum, Prominent nose, High palate, High anterior hairline, Micropenis, Long face, Depres...	OMIM:300895
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim...	ORPHA:177901
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Tuberculosis	Weight loss	ORPHA:3389
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Median cleft lip and palate, Intestinal malrotation, Hamartoma of tongue, B...	OMIM:269860
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743
Aceruloplasminemia	Torticollis, Ataxia, Akinesia, Tremor, Chorea, Limb ataxia, Gait ataxia, Blepharospasm, Cognitive...	ORPHA:48818
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Hypospadias, Abnormal cortical gyration, Short stature, Talipes equinovarus, Hypoplastic nipples,...	OMIM:177980
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c...	ORPHA:404
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Delayed epiphyseal ...	ORPHA:166016
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h...	ORPHA:280679
Robinow-Sorauf Syndrome	Hallux valgus, Broad hallux, Craniosynostosis, Long nose, Flat face, Pansynostosis, Duplication o...	OMIM:180750
Perlman Syndrome	Hypoplasia of penis, Round face, Anteverted nares, Cryptorchidism, High, narrow palate, Abnormal ...	ORPHA:2849
Ohdo Syndrome	Joint laxity, Small scrotum, Anteverted nares, Depressed nasal bridge, Short stature, Sparse eyeb...	OMIM:249620
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea...	ORPHA:1782
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Alopecia, Small scrotum, Toe syndactyly, Highly arched eyebrow, Synophrys, Wid...	ORPHA:3253
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Zttk Syndrome	Aortic regurgitation, Curly hair, Absent gallbladder, Short stature, Polyuria, Unilateral renal a...	OMIM:617140
Aspartylglucosaminuria	Large face, Coarse facial features, Abnormal morphology of ulna, Malabsorption, Joint stiffness, ...	ORPHA:93
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Hashimoto thyroiditis, ...	ORPHA:227990
Premature Ovarian Failure 1	Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation	OMIM:311360
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
7Q11.23 Microduplication Syndrome	Simplified gyral pattern, High palate, Chronic otitis media, Abnormal facial shape, Aplasia/hypop...	ORPHA:96121
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul...	ORPHA:100024
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Short stature, Pancreatic fibrosis, Spl...	OMIM:232220
Mucolipidosis Type Ii	Dry hair, White hair, Knee flexion contracture, Abnormal long bone morphology, Otitis media, Depr...	ORPHA:576
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Micropenis, Sparse...	OMIM:601224
Rhyns Syndrome	Osteopenia, Renal insufficiency, Radial bowing, Short stature, Decreased response to growth hormo...	OMIM:602152
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Monocyto...	OMIM:614470
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hypocalcemia, Elevated gamma-glutamyltransferase level, Clinodacty...	OMIM:243800
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Anteverted nares, Prominent nasal bridge, Short stature,...	OMIM:309583
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon...	ORPHA:478
Pyle Disease	Metaphyseal dysplasia, Metaphyseal widening, Genu valgum, Reduced bone mineral density, Limited e...	OMIM:265900
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Abnormal circulating enzyme concentration or activity, Hepatomegaly, Elevated circulating creatin...	ORPHA:308552
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, Genu ...	OMIM:264090
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Myocardial infarction, Paraproteinemia, Nephritis, Membr...	ORPHA:91139
Pseudohypoaldosteronism Type 2	Growth delay, Hypertension, Hyperkalemia, Short stature	ORPHA:757
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Hallermann-Streiff Syndrome	High, narrow palate, Uveitis, Reduced bone mineral density, Glossoptosis, Clinodactyly of the 5th...	ORPHA:2108
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Riboflavin Transporter Deficiency	Cachexia, Aggressive behavior, Hypertension, Hypogonadism, Dysphagia, Diabetes insipidus	ORPHA:97229
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nep...	ORPHA:227982
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l...	OMIM:618987
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, Increased circu...	OMIM:619313
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat...	ORPHA:2235
Supranuclear Palsy, Progressive, 2	Axial dystonia, Postural tremor, Akinesia, Bradykinesia, Irritability, Falls, Gait imbalance, Ret...	OMIM:609454
Autosomal Dominant Omodysplasia	Bifid scrotum, Short humerus, Hypoplasia of penis, Rhizomelia, Depressed nasal bridge, Cryptorchi...	ORPHA:93328
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Failure to thrive in infancy, Eczema, Decreased proportion of CD8-posi...	OMIM:617241
Bardet-Biedl Syndrome 1	Micropenis, Syndactyly, Abnormality of the kidney, Nephrogenic diabetes insipidus, Obesity, Posta...	OMIM:209900
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly,...	OMIM:613091
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
3M Syndrome	Hypoplasia of the ulna, Congenital hip dislocation, Hypospadias, Rocker bottom foot, Hypoplastic ...	ORPHA:2616
Leydig Cell Hypoplasia, Type I	Increased circulating gonadotropin level, Hypergonadotropic hypogonadism	OMIM:238320
Non-Distal Duplication 13Q	Arachnodactyly, Abnormal fingernail morphology, Abnormal eyelash morphology, Cryptorchidism, Syno...	ORPHA:1702
Dominant Beta-Thalassemia	Hypoparathyroidism, Bowing of the long bones, Diabetes mellitus, Failure to thrive in infancy, Os...	ORPHA:231226
Lipodystrophy, Familial Partial, Type 1	Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatomegaly	OMIM:608600
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Joint stiffness, Abnormal hair morphology, Flexion contracture, Reduced bone mineral de...	ORPHA:1979
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Oligoarthritis, Growth delay, Decreased circulating total IgM, T lymphocytopenia, De...	OMIM:619510
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Tetanus	Tachycardia, Stiff neck, Elevated circulating creatine kinase concentration, Elevated urinary nor...	ORPHA:3299
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroidism, Hypertensio...	ORPHA:90065
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Monosomy 13Q34	Pes planus, Epistaxis, Hypercalcemia, Micrognathia, Postaxial hand polydactyly, Fetal pyelectasis...	ORPHA:96168
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension	OMIM:201910
Nicolaides-Baraitser Syndrome	Dry hair, High, narrow palate, Low anterior hairline, Short metatarsal, Prominent interphalangeal...	OMIM:601358
Charge Syndrome	External genital hypoplasia, Decreased response to growth hormone stimulation test, Gonadotropin ...	OMIM:214800
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, I...	ORPHA:136
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Int...	ORPHA:90291
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Short stature, Ovotestis, Cleft palate, Hypoplasia of the uterus, Anteriorly placed ...	OMIM:309801
Richards-Rundle Syndrome	Reduced bone mineral density, Ketonuria, Hypergonadotropic hypogonadism, Joint stiffness	ORPHA:1399
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Hip dislocation, Flattened epiphysis, Coxa vara, Cleft palate, Bifid uvul...	OMIM:183900
Warburg Micro Syndrome 2	Small scrotum, Overlapping toe, Prominent nasal bridge, Postnatal growth retardation, Cryptorchid...	OMIM:614225
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly, Nail dysplasia, Distichiasis, Flat face, Facial asymmetry	OMIM:617681
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Marshall-Smith Syndrome	Brittle hair, Large sternal ossification centers, Bilateral cryptorchidism, Synophrys, Distal wid...	OMIM:602535
Seckel Syndrome 1	Abnormal finger flexion crease, Prominent nose, High palate, Clinodactyly of the 5th finger, Pach...	OMIM:210600
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Congeni...	ORPHA:3455
Desmosterolosis	Micromelia, Pachygyria, Bifid uvula, Increased bone mineral density, Depressed nasal bridge, Abno...	ORPHA:35107
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Congenital Myopathy 19	Cryptorchidism, Depressed nasal ridge, Congenital contracture, High palate, Dysphagia, Triangular...	OMIM:618578
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Choanal atresia, Short stature, Cryptorchidism, Clinod...	OMIM:147950
Orofaciodigital Syndrome Type 1	Brittle hair, Micrognathia, Reduced bone mineral density, Coarse hair, Clinodactyly of the 5th fi...	ORPHA:2750
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ca...	ORPHA:3472
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:613550
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Silver-Russell Syndrome 1	Syndactyly, Small for gestational age, Hypospadias, Decreased response to growth hormone stimulat...	OMIM:180860
Xq12-Q13.3 Duplication Syndrome	Decreased serum insulin-like growth factor 1, Depressed nasal bridge, Eczema, Elevated circulatin...	ORPHA:314389
Autosomal Recessive Polycystic Kidney Disease	Micrognathia, Biliary hyperplasia, Elevated gamma-glutamyltransferase level, Hyponatremia, Portal...	ORPHA:731
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, External genital hypoplasia, Elevated circulating creatine kinase concentration, Low ...	ORPHA:329178
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Finger syndactyly, Alopecia, Brachydactyly, Hypoplastic fingernail, ...	ORPHA:974
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Postaxial polydactyly, Micrognathia, Wide anterior fontanel, Complete atriove...	OMIM:617925
Sotos Syndrome	Narrow face, High, narrow palate, Increased body weight, High palate, Gastroesophageal reflux, Ot...	OMIM:117550
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Coarse facial features, Seborrheic dermatitis, Limitation of joint mobility, Osteopor...	OMIM:259100
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Coarse facial features, Facial shape deformation, Depressed nasal bridg...	ORPHA:309282
Coffin-Siris Syndrome	Low anterior hairline, Simplified gyral pattern, Papillary thyroid carcinoma, Aspiration pneumoni...	ORPHA:1465
Kearns-Sayre Syndrome	Hypoparathyroidism, Diabetes mellitus, Short stature, Primary adrenal insufficiency, Renal tubula...	OMIM:530000
Wolfram-Like Syndrome	Glucose intolerance, Diabetes mellitus, Severe postnatal growth retardation, Delayed puberty	ORPHA:411590
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom...	ORPHA:57777
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H...	ORPHA:35710
Nablus Mask-Like Facial Syndrome	Low anterior hairline, High palate, Sparse hair, Micropenis, Anteverted nares, Depressed nasal br...	OMIM:608156
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Bone-marrow foam cells, Vacuolated lymphocytes, Vomiting, Abdominal pain, ...	ORPHA:275761
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Bartsocas-Papas Syndrome 1	Bilateral cryptorchidism, Flexion contracture, Hypoplastic iliac wing, Micropenis, Short phalanx ...	OMIM:263650
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Small scrotum, Increased density of long bones, Tibial bowing, C...	OMIM:269150
Slc39A8-Cdg	Osteopenia, Failure to thrive in infancy, Abnormal blood zinc concentration, Craniosynostosis, Sh...	ORPHA:468699
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Short stature, Micrognathia, Hip disloc...	OMIM:617729
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Joint stiffness, Long fingers, Synophrys, Slender finger, Abno...	ORPHA:1895
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M...	ORPHA:79456
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the clavicles, Short stature, Absent...	ORPHA:90153
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hypokalemia, Hyperaldosteronism	OMIM:605635
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Hip contracture, Failure to thrive in infancy, Anteverted nares, Cachexia, Tapered fi...	OMIM:616801
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly, Alopecia, Brittle hair, Failure to thrive	ORPHA:50812
Hemochromatosis, Type 4	Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Oste...	OMIM:606069
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,...	ORPHA:561
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont...	OMIM:259600
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm	ORPHA:50944
Ulnar-Mammary Syndrome	Hypoplasia of penis, Hypoplastic toenails, Abnormal finger morphology, Abnormality of the uterus,...	ORPHA:3138
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Anteverted nares, Depressed nasal bridge, Coxa valga, Wide anteri...	ORPHA:163649
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Hypospadias, Depressed nasal bridge, Short stature, Tapered finger, Cryptorchidism...	OMIM:616734
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Flexion contracture, O...	ORPHA:220393
Arteriosclerosis, Severe Juvenile	Short stature, Myocardial infarction, Chronic kidney disease, Hypertension, Hip dysplasia, Delaye...	OMIM:208060
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Acne, Seborrheic dermatitis, Clubbing, Secretory diarrhea, Hyperhidrosis, Hyperostosis, Hypoalbum...	OMIM:614441
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Wide ant...	OMIM:619064
Yao Syndrome	Ventricular hypertrophy, Pericarditis, Inflammatory abnormality of the skin, Skin rash, Abdominal...	OMIM:617321
Pseudohypoaldosteronism, Type Iia	Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:145260
Netherton Syndrome	Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Malabsorption, Sparse eyebrow, Abnormal h...	ORPHA:634
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Emotional lability, Ch...	OMIM:608643
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Velocardiofacial Syndrome	Hypoparathyroidism, Short stature, Impaired T cell function, Underdeveloped nasal alae, Cryptorch...	OMIM:192430
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Maternal diabetes, Cardiomegaly, Dextrotransposition of the great arteries, Abnorm...	ORPHA:860
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ...	ORPHA:3312
Congenital Ichthyosiform Erythroderma	Alopecia, Failure to thrive, Abnormality of the nail, Hypohidrosis	ORPHA:79394
Mogs-Cdg	Decreased circulating IgG level, Alopecia, Wide nose, External genital hypoplasia, Decreased circ...	ORPHA:79330
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp...	OMIM:611489
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Chronic diarrhea...	OMIM:301220
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Alopecia, Decreased circulating cortisol level, Decreased serum insulin-like growth...	ORPHA:293978
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Concave nasal ri...	ORPHA:166277
Osteopetrosis, Autosomal Recessive 2	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc...	OMIM:259710
Frontonasal Dysplasia 2	Aplasia of the nasal bone, Cleft ala nasi, Sparse eyelashes, Alopecia totalis, Craniosynostosis, ...	OMIM:613451
Bathing Suit Ichthyosis	Alopecia, Parakeratosis, Autoamputation of digits, Multiple joint contractures, Palmoplantar hype...	ORPHA:100976
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Long face, Brittle hair, Hypospadias, Prominent nasal bridge, Joint hypermobility, Oral-pharyngea...	OMIM:619184
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Alopecia, Severe short stature, Brachydactyly, Joint stiffness, Hip dislocatio...	ORPHA:1005
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Short stature, Autoimmunity, Splenomegaly, Chronic lymphatic leukemia, Growth delay,...	OMIM:616005
Fabry Disease	Renal insufficiency, Angina pectoris, Transient ischemic attack, Myocardial infarction, Proteinur...	OMIM:301500
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Depressed ...	ORPHA:672
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Congenital hip dislocation, Decreased response to growth hormone stimulation test, De...	OMIM:616007
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple...	OMIM:216360
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Wide nose, Pruritus, Recurrent pneumo...	OMIM:618282
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Ring Chromosome 8 Syndrome	Deviation of finger, Short nose, Anteverted nares, Low posterior hairline	ORPHA:1450
Acrofacial Dysostosis, Catania Type	Finger syndactyly, Hypospadias, Short stature, Abnormal hair pattern, Cryptorchidism, Small hand,...	ORPHA:1786
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio...	ORPHA:54251
Trigonocephaly 1	Craniosynostosis, High, narrow palate, Synophrys, Long penis, Wide nasal bridge, Short nose, Meck...	OMIM:190440
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Ataxia, Nail dystrophy	OMIM:616353
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Nephropathy	ORPHA:820
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Autoimmunity, Anemia of inadequate production, M...	OMIM:617780
Alkaptonuria	Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Joint stiffne...	ORPHA:56
Fg Syndrome Type 1	Prominent nose, Generalized joint laxity, High palate, Gastroesophageal reflux, Finger syndactyly...	ORPHA:93932
Multiple Endocrine Neoplasia, Type I	Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ...	OMIM:131100
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Cardiac arrest, Pu...	ORPHA:139402
Pseudo-Torch Syndrome 3	Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Hyp...	OMIM:618886
Hurler Syndrome	Hepatomegaly, Angina pectoris, Camptodactyly of finger, Short stature, Abnormal heart valve morph...	ORPHA:93473
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney dise...	ORPHA:284426
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dystrophy, Camptodactyly of finger, Alopecia totalis, Nail dysplasia	OMIM:212360
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Hypoplastic toenails, Low anterior...	ORPHA:235
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Hypospadias, Supernumerary nipple, Short hallux, Abn...	ORPHA:3224
Lynch Syndrome	Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan...	ORPHA:144
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Sparse hair, Bifid uvula, Syndactyly, Hypospadias, Depressed nasal ...	OMIM:129400
Coach Syndrome 2	Elevated hepatic transaminase, Hypertension, Hyperechogenic kidneys, Elevated circulating creatin...	OMIM:619111
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Colitis, Anoperi...	OMIM:613960
Lipodystrophy, Familial Partial, Type 4	Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	OMIM:613877
Beemer-Ertbruggen Syndrome	Increased bone mineral density	ORPHA:1237
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Hype...	OMIM:606721
Chops Syndrome	High, narrow palate, Synophrys, Coarse hair, Gastroesophageal reflux, Aspiration pneumonia, Antev...	OMIM:616368
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Absence of renal corticomedullary differentiation, Secundum atrial septal defect, Renal hypoplasi...	OMIM:619758
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis	OMIM:615085
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Tapered toe, Large for gestational...	ORPHA:544488
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, Preaxial hand polydactyl...	OMIM:263520
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p...	OMIM:166210
Cardiofaciocutaneous Syndrome	Brittle hair, High palate, Sparse hair, Dystrophic fingernails, Long face, Anteverted nares, Abno...	ORPHA:1340
Short Stature, Brussels Type	Short stature, Delayed epiphyseal ossification, Growth delay, Calcification of cartilage, Abnorma...	ORPHA:2867
Supranuclear Palsy, Progressive, 1	Axial dystonia, Akinesia, Tremor, Bradykinesia, Irritability, Falls, Gait imbalance, Retrocollis,...	OMIM:601104
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary em...	ORPHA:70591
17P13.3 Microduplication Syndrome	Wide nose, Hypoplasia of penis, Congenital hip dislocation, High palate, Clinodactyly of the 5th ...	ORPHA:217385
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu...	OMIM:278850
Catel-Manzke Syndrome	Joint laxity, Short humerus, Short metacarpal, Short femur, Overriding aorta, Ventricular septal ...	OMIM:616145
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Proteinuria, Large for gestational age,...	ORPHA:263455
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome	Round face, Palmoplantar keratoderma, Flat face	ORPHA:2536
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase...	ORPHA:263665
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Anteverted nares, Depressed nasal bridge, Cleft soft palate, Short stature, Crypto...	OMIM:616331
Chromosome 17Q12 Deletion Syndrome	Renal cyst, High palate, Short palm, Long toe, Multicystic kidney dysplasia, Depressed nasal brid...	OMIM:614527
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:3092
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Alopecia totalis, Aplasia/Hypoplasia of the distal phalanges o...	ORPHA:1234
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Short Stature, Microcephaly, And Endocrine Dysfunction	Diabetes mellitus, Short stature, Prominent nasal bridge, Convex nasal ridge, Broad nasal tip, Lo...	OMIM:616541
Proteus Syndrome	Depressed nasal bridge, Mandibular hyperostosis, Hyperkeratosis, Calvarial hyperostosis, Facial h...	OMIM:176920
Mulibrey Nanism	Intrauterine growth retardation, Short stature, Cachexia	ORPHA:2576
Giant Cell Arteritis	Pericarditis, Alopecia, Renal insufficiency, Epistaxis, Sudden cardiac death, Joint stiffness, An...	ORPHA:397
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Acute kidney injury, Elevated circulating creatine kinase concentration, H...	ORPHA:466650
Limb-Mammary Syndrome	Cleft hard palate, Aplasia of the ovary, Clinodactyly of the 5th finger, Bifid uvula, Syndactyly,...	ORPHA:69085
Autosomal Recessive Spastic Paraplegia Type 46	Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm...	ORPHA:320391
Pallister-Hall-Like Syndrome	Toe syndactyly, Depressed nasal bridge, Short stature, Micromelia, Postaxial hand polydactyly, Hi...	OMIM:241800
Prune Belly Syndrome	Multicystic kidney dysplasia, Congenital hip dislocation, Intestinal malrotation, Cryptorchidism,...	ORPHA:2970
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi...	OMIM:606995
Osteosarcoma	Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Abnormal tibial metaphysis morph...	ORPHA:668
Hypomelanosis Of Ito	Syndactyly, Alopecia, Coarse facial features, Gray matter heterotopia, Hand polydactyly, Radial d...	OMIM:300337
Meier-Gorlin Syndrome 6	Severe short stature, Small for gestational age, Decreased response to growth hormone stimulation...	OMIM:616835
Beta-Thalassemia Major	Hypoparathyroidism, Bowing of the long bones, Diabetes mellitus, Failure to thrive in infancy, Os...	ORPHA:231214
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Congestiv...	ORPHA:615
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal...	ORPHA:93110
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis	OMIM:617306
Keutel Syndrome	Alopecia, Short stature, Ventricular septal defect, Calcification of cartilage, Pulmonary arteria...	ORPHA:85202
Dubowitz Syndrome	High palate, Gastroesophageal reflux, Otitis media, Hypocholesterolemia, Clinodactyly of the 5th ...	OMIM:223370
Noonan Syndrome 14	Curly hair, Coarse facial features, Short stature, Prominent nasal bridge, Sparse eyebrow, Crypto...	OMIM:619745
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Nail dystrophy, Nail dysplasia	ORPHA:79397
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Triangular face, Arachnodactyly, Short stature...	OMIM:614856
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Choanal stenosis, Atrichia, Periungual erythema, Dystrophic fingernails, Absent eyebrow, Alopecia...	OMIM:308205
Wolfram Syndrome	Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Join...	ORPHA:3463
Papillorenal Syndrome	Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absenc...	OMIM:120330
Mucopolysaccharidosis Type 7	Coarse facial features, Joint stiffness, Metatarsus adductus, Hepatitis, Epiphyseal stippling, Ab...	ORPHA:584
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Short femur, Short stature, Talipes, Micrognathia, Synophrys, Hypercalciuria, Nephroc...	OMIM:300990
14Q11.2 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Highly arched eyebrow, High palate, Toe clinodactyly, Sho...	ORPHA:261120
Even-Plus Syndrome	Epiphyseal dysplasia, Severe short stature, Highly arched eyebrow, Bifid nasal tip, Synophrys, De...	OMIM:616854
Enamel-Renal Syndrome	Increased circulating osteocalcin level, Renal insufficiency, Hypophosphaturia, Impaired renal co...	ORPHA:1031
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia...	OMIM:618620
Congenital Disorder Of Glycosylation, Type It	Elevated circulating creatine kinase concentration, Cardiomegaly, Vomiting, Bifid uvula, Hepatome...	OMIM:614921
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Micrognathia, Postnatal growth retardation, Abnormal cardiac ventricle mor...	ORPHA:2306
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Shor...	OMIM:619638
Autosomal Dominant Dopa-Responsive Dystonia	Paresis of extensor muscles of the big toe, Progressive flexion contractures, Hypertension, Talip...	ORPHA:98808
Leigh Syndrome	Multiple joint contractures, Complex organic aciduria, Frontal hirsutism, Alopecia, Renal tubular...	ORPHA:506
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Nephrocalcinosis, Hypothyroidism, Tubulointerstitial fibrosis, Hepatomegaly, Short st...	ORPHA:79259
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, ...	OMIM:146255
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Hutchinson-Gilford Progeria Syndrome	Alopecia, Angina pectoris, Myocardial infarction, Micrognathia, Congestive heart failure, Osteoly...	OMIM:176670
Oculodentodigital Dysplasia	Brittle hair, Clinodactyly of the 5th finger, Sparse hair, Abnormality of the nail, Broad columel...	ORPHA:2710
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect...	OMIM:620135
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Mosaic Variegated Aneuploidy Syndrome 2	Small for gestational age, Decreased response to growth hormone stimulation test, Craniosynostosi...	OMIM:614114
Cornelia De Lange Syndrome	Hypoplasia of penis, Proximal placement of thumb, Micromelia, Synophrys, Low anterior hairline, H...	ORPHA:199
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Disproportion...	OMIM:618618
Glucocorticoid Resistance, Generalized	Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s...	OMIM:615962
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T...	OMIM:301050
Sponastrime Dysplasia	Aplasia of the nasal bone, Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia str...	ORPHA:93357
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Hypertension, Renal tu...	OMIM:610205
Mesomelia-Synostoses Syndrome	Micromelia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morphology, Clinodacty...	ORPHA:2496
Coffin-Siris Syndrome 1	Dry hair, Prominent interphalangeal joints, High palate, Prominent fingertip pads, Clinodactyly o...	OMIM:135900
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated creatine kinase after exercise, Dicarboxyli...	ORPHA:159
Gomez-Lopez-Hernandez Syndrome	Alopecia, Anteverted nares, Decreased response to growth hormone stimulation test, Craniosynostos...	OMIM:601853
Cystic Hamartoma Of Lung And Kidney	Hypertension, Multicystic kidney dysplasia	ORPHA:2111
Refsum Disease, Classic	Short fourth metatarsal, Decreased phytanoyl-CoA hydroxylase activity, Cardiomegaly, Congestive h...	OMIM:266500
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Distal Deletion 10Q	Prominent nose, Hypoplastic toenails, 2-3 toe cutaneous syndactyly, Short metatarsal, High palate...	ORPHA:96148
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ...	OMIM:610198
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Calcaneovalgus deformity, Pineal cyst, Pro...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Calcaneovalgus deformity, Pineal cyst, Pro...	ORPHA:363958
Immunodeficiency 31C	Villous atrophy, Protein-losing enteropathy, Recurrent vulvovaginal candidiasis, Hypothyroidism, ...	OMIM:614162
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased serum pyruvate, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertr...	ORPHA:1349
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Arthritis, B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia	OMIM:601457
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Coarse facial features, Depressed nasal bridge, Short stature, Cox...	OMIM:619833
Macrocephaly/Autism Syndrome	Joint laxity, Depressed nasal bridge, Penile freckling, Large for gestational age, Obesity, Decre...	OMIM:605309
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Anteverted nares, Highly arched eyebrow, Postnatal growth retardation, Cr...	OMIM:619135
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Nausea and vomi...	ORPHA:440437
Simosa Craniofacial Syndrome	Highly arched eyebrow, Underdeveloped nasal alae, Sparse eyebrow, Abnormal hair morphology, Long ...	OMIM:182150
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi...	ORPHA:293987
Cantu Syndrome	Broad hallux, Bicuspid aortic valve, Curly eyelashes, Large for gestational age, Short hallux, Co...	OMIM:239850
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Gout, Hypertension, Polycysti...	OMIM:618061
Junctional Epidermolysis Bullosa Inversa	Anemia, Gastrointestinal inflammation	ORPHA:79405
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Unsteady gait, Absent pubic hair, Absent axillary ha...	ORPHA:2269
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Williams-Beuren Syndrome	Osteopenia, Bicuspid aortic valve, Flexion contracture, Premature graying of hair, Early onset of...	OMIM:194050
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas...	OMIM:275000
Digeorge Syndrome	Micrognathia, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypoc...	OMIM:188400
Peho-Like Syndrome	Tapered finger, Lissencephaly, Short nose, Pachygyria, Polymicrogyria	OMIM:617507
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response, Depression	OMIM:620114
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Depressed nasal bridge, Penile freckling, Hurthle cell thyroid adenoma, Pre...	ORPHA:210548
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Elevated circulating alpha-fetoprotein conc...	ORPHA:457083
Primary Ciliary Dyskinesia	Male infertility, Nasal polyposis, Intestinal malrotation, Female infertility, Clubbing, Bronchie...	ORPHA:244
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Mucolipidosis Ii Alpha/Beta	Osteopenia, Brittle hair, Increased serum beta-hexosaminidase, Micrognathia, Cardiomegaly, Metaph...	OMIM:252500
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Skin rash, Epistaxis, Cerebral he...	ORPHA:99828
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Micromelia, Craniosynostosis, Split hand, Cleft palate, Webbed ...	ORPHA:2145
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Nausea and vom...	ORPHA:537
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Pheochromocytoma	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171300
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Short stature, Anteverted nares, Cleft palate	ORPHA:2015
Classic Mycosis Fungoides	Splenomegaly, Alopecia, Abnormal lymphocyte morphology, Abnormality of the nail	ORPHA:2584
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Ganglioneuroma	Gastrointestinal hemorrhage, Neoplasm of the adrenal gland, Hypertension, Abnormality of the adre...	ORPHA:251992
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Clinodactyly of the 5th finger, Chronic otitis media, Hypoplastic female ext...	ORPHA:1507
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Joint stiffness, Heparan sulfate excretion in urine, Cardiomegaly, S...	OMIM:252920
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase...	ORPHA:1310
Nail-Patella Syndrome	Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, T...	ORPHA:2614
Nephroblastoma	Abdominal pain, Weight loss, Lymphadenopathy, Neoplasm of the liver, Hypertension	ORPHA:654
Kleefstra Syndrome	Hypoplasia of penis, Synophrys, Renal cyst, Gastroesophageal reflux, Chronic otitis media, Microp...	ORPHA:261494
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Bifid femur, Increased susceptibility to fr...	ORPHA:2769
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Congestive heart failure, Dilated cardiomyopathy, Ven...	OMIM:605676
Arterial Calcification, Generalized, Of Infancy, 1	Short stature, Myocardial infarction, Cardiomegaly, Congestive heart failure, Ankylosis, Dilated ...	OMIM:208000
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Short attention span, Exaggerated startle response, Inability to walk, Chorea, Irritability	OMIM:617864
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Arthrogryposis, Distal, Type 2B2	Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Short toe, Adducted thumb, Hip dis...	OMIM:618435
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Diastrophic Dysplasia	Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness	ORPHA:628
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Hyperhidrosis, High palate, Gastroesophageal...	OMIM:115150
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T...	ORPHA:2041
Wilson Disease	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepat...	ORPHA:905
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Cardiomegaly, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Imp...	ORPHA:158687
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Absent nipple, Depressed nasal bridge, Unilateral cleft palate,...	ORPHA:1299
Micro Syndrome	Hypoplasia of penis, Anteverted nares, Short stature, Joint stiffness, Cryptorchidism, Hypoplasti...	ORPHA:2510
Congenital Myopathy 9A	Akinesia	OMIM:618822
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Refractory anemia, Cachexia, Abdominal pain, High, narrow palate, Re...	ORPHA:79076
Acquired Central Diabetes Insipidus	Pollakisuria, Polydipsia, Diabetes insipidus, Weight loss	ORPHA:95626
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Azoospermia, Arthrit...	OMIM:602390
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Anteverted nares, Depressed nasal bridge, Metaphyseal widen...	OMIM:618961
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi...	ORPHA:331206
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth...	ORPHA:99867
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Increased inflammatory response, Increased circulating interleukin...	ORPHA:542323
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis	OMIM:615947
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Nausea and vom...	ORPHA:36426
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Hypoplastic fingernail, Coarse facial features, Anteverted nares, Hypoplastic thumbnail, Precocio...	OMIM:619356
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Nail pits, Patchy alopecia, Na...	ORPHA:79153
Esophagitis, Eosinophilic, 2	Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive	OMIM:610247
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Round face, Anteverted nares, Keratitis, Synophrys, Wide nasal bridge, Conjunctivitis, Recurrent ...	OMIM:602562
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
46,Xy Sex Reversal 5	Sex reversal, Elevated circulating follicle stimulating hormone level	OMIM:613080
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Abnormal...	OMIM:610967
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micromelia, Epispadias, High, narrow palate, Coxa vara, Clitoral hypoplasia,...	ORPHA:3107
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow...	OMIM:223800
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Hypokalemia, Hyperthyroidism, Weight loss	OMIM:188580
Alg9-Cdg	Villous atrophy, Narrow greater sciatic notch, Gastroesophageal reflux, Vomiting, Abnormal bone o...	ORPHA:79328
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Mulibrey Nanism	Wide nose, Depressed nasal bridge, Short stature, Thickened cortex of long bones, Wide nasal brid...	OMIM:253250
Myhre Syndrome	Abnormal penis morphology, Craniofacial hyperostosis, Brachydactyly, Severe short stature, Hyposp...	ORPHA:2588
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Impaired vibration sensation in the lower limbs, Difficulty walking	ORPHA:320406
Focal Myositis	Limitation of joint mobility, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Floating-Harbor Syndrome	Prominent nose, Short middle phalanx of the 2nd finger, Glandular hypospadias, Clinodactyly of th...	OMIM:136140
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Q Fever	Anorexia, Abnormal left ventricular function, Cholecystitis, Infectious encephalitis, Hepatomegal...	ORPHA:781
Igg4-Related Aortitis	Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level, Elevat...	ORPHA:449400
Immunodeficiency, Common Variable, 10	Trachyonychia, Hypoglycemia, Alopecia totalis, Anti-thyroid peroxidase antibody positivity, Decre...	OMIM:615577
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Sandal gap, Depressed nasal bridge, Supernumerary nipple, Cryptorchidism, Ab...	ORPHA:1812
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto...	OMIM:620133
Degcags Syndrome	Osteopenia, Prominent nose, Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Prematur...	OMIM:619488
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Flexion contracture, Palmoplantar hyperkeratosis, Nail dystrophy, Nail d...	OMIM:242300
Classic Homocystinuria	Gastrointestinal hemorrhage, Sparse scalp hair, Elevated hepatic transaminase, Hepatomegaly, Arac...	ORPHA:394
Late-Onset Junctional Epidermolysis Bullosa	Anemia, Gastrointestinal inflammation	ORPHA:79406
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Elevated circulating thyroid-stimulating hormone concentration, Palmop...	OMIM:601812
Hermansky-Pudlak Syndrome 1	Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of the large intestine, Col...	OMIM:203300
Chanarin-Dorfman Syndrome	Alopecia, Ataxia	OMIM:275630
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Osteopenia, Pancytopenia, Premature graying of hair, Growth delay, Bone marrow hypocellularity, A...	OMIM:617341
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Severe short stature, Proteinuria, Cachexia, ...	OMIM:610965
Denys-Drash Syndrome	Proteinuria, Hypertension, Nephrotic syndrome, Nephropathy, Nephroblastoma	ORPHA:220
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Brachydactyly, Short stature, Prominent nasal bridge, Cryptorchidism, Recurrent upper respiratory...	OMIM:300534
Leukodystrophy, Hypomyelinating, 13	Irritability, Exaggerated startle response, Ataxia	OMIM:616881
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Glossoptosis, High palate, Hypospadias, Rhizomelia, Anteverted nares, Short stature, ...	OMIM:611209
Global Developmental Delay With Speech And Behavioral Abnormalities	Joint hypermobility, Supernumerary nipple, Precocious puberty, Cryptorchidism, Recurrent otitis m...	OMIM:619243
Acute Intermittent Porphyria	Hyponatremia, Dark urine, Tachycardia, Renal insufficiency, Abnormal circulating enzyme concentra...	ORPHA:79276
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia	OMIM:211900
3C Syndrome	Finger syndactyly, Hypoplasia of penis, Hypoplastic fingernail, Hypospadias, Depressed nasal brid...	ORPHA:7
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short stature, Camptodactyly of finger, Recurrent pneumonia, Growth delay, Gastroesophageal reflu...	ORPHA:1495
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis, Pustule, Paronychia, Increased circulating IgE level, Bloody diarrhe...	OMIM:614328
Vitamin K Antagonist Embryofetopathy	Anteverted nares, Depressed nasal bridge, Choanal atresia, Epiphyseal stippling, Macroglossia, In...	ORPHA:1914
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Autoimmunity, Precocious pub...	ORPHA:91354
Epidermolysis Bullosa, Junctional 1A, Intermediate	Patchy alopecia, Nail dystrophy, Fragile nails, Palmar hyperhidrosis	OMIM:226650
Harlequin Ichthyosis	Limitation of joint mobility, Depressed nasal ridge, Hyperkeratosis, Hand polydactyly, Foot polyd...	ORPHA:457
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia...	ORPHA:101330
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Short stature, Reduced bone mineral density, Slender long bone, Coarse hair, Jo...	ORPHA:1185
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased response to growth hormone stimulation test, High, narrow palate, Hyperhidrosis, Gastro...	ORPHA:96182
Pontocerebellar Hypoplasia, Type 10	Highly arched eyebrow, Tapered finger, Underdeveloped nasal alae, Cryptorchidism, Synophrys, Bulb...	OMIM:615803
Deafness-Lymphedema-Leukemia Syndrome	Nausea and vomiting, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphad...	ORPHA:3226
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchid...	ORPHA:3157
Pediatric Systemic Lupus Erythematosus	Alopecia, Antiphospholipid antibody positivity, Antinuclear antibody positivity, Systemic lupus e...	ORPHA:93552
Teebi Hypertelorism Syndrome 2	Syndactyly, Depressed nasal bridge, Hypospadias, Broad nasal tip, Wide anterior fontanel, Cleft p...	OMIM:619736
Oculocerebrocutaneous Syndrome	Finger syndactyly, Alopecia, Congenital hip dislocation, Abnormal fingernail morphology, Aplasia/...	ORPHA:1647
Poems Syndrome	Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Abnormality of the endocrine s...	ORPHA:2905
Ichthyosis, Congenital, Autosomal Recessive 2	Anhidrosis, Alopecia, External genital hypoplasia, Thin nail, Abnormal hair morphology, Short toe...	OMIM:242100
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Elevated circulating C-reactive protein ...	OMIM:613011
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Hypertension, Tubulointer...	OMIM:615862
Trisomy 18	Narrow face, Abnormal toenail morphology, Short stature, Cryptorchidism, Esophageal atresia, Devi...	ORPHA:3380
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis...	ORPHA:47612
Immunodeficiency 104	Splenomegaly, T lymphocytopenia	OMIM:608971
Bruck Syndrome 2	Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contractu...	OMIM:609220
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hypothyroidism, Hemolytic anemi...	OMIM:615846
Tricho-Dento-Osseous Syndrome	Increased bone mineral density	ORPHA:3352
Smith-Lemli-Opitz Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc...	OMIM:270400
Relapsing Fever	Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-react...	ORPHA:91547
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Alopecia, Angina pectoris, Telang...	ORPHA:93672
Ring Chromosome 12 Syndrome	Syndactyly, Acne, Small for gestational age, Cryptorchidism, Abnormal 5th finger morphology, High...	ORPHA:1439
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Paronychia, Abnormal blood ion concentration, Renal cyst, Aplasia/Hypoplasia ...	ORPHA:79404
Self-Improving Dystrophic Epidermolysis Bullosa	Anemia, Gastrointestinal inflammation	ORPHA:79411
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Williams Syndrome	Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc...	ORPHA:904
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Micrognathia, Osteoarthritis, Reduced bone mineral density, Intracranial h...	ORPHA:740
Fatty Acyl-Coa Reductase 1 Deficiency	Short stature, Depressed nasal bridge, Highly arched eyebrow, Growth delay, Abnormal facial shape...	ORPHA:438178
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Foot joint contracture, Protein...	ORPHA:90321
Cystic Echinococcosis	Elevated hepatic transaminase, Hepatomegaly, Abdominal symptom, Eosinophilia, Abnormality of the ...	ORPHA:400
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia, Joint stiffness	ORPHA:1216
Ciliary Dyskinesia, Primary, 41	Bronchiectasis, Infertility, Recurrent sinusitis, Immotile sperm, Recurrent otitis media	OMIM:618449
Spondyloocular Syndrome	Osteopenia, Long toe, Unilateral cryptorchidism, Arachnodactyly, Femur fracture, Overlapping toe,...	OMIM:605822
Cockayne Syndrome B	Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac win...	OMIM:133540
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Anteverted nares, Postaxial polydactyly, Postaxial hand pol...	OMIM:619879
Aredyld Syndrome	Craniofacial hyperostosis, Short stature, Cachexia, Abnormal pelvic girdle bone morphology, Type ...	ORPHA:1133
Bloom Syndrome	Narrow face, Prominent nose, Clinodactyly of the 5th finger, Decreased circulating IgG level, Syn...	OMIM:210900
Insulin-Like Growth Factor I, Resistance To	Synophrys, High palate, Abnormal facial shape, Decreased body weight, Short stature, Highly arche...	OMIM:270450
Sézary Syndrome	Alopecia, Abnormal immunoglobulin level, Pruritus, Palmoplantar keratoderma, Nail dystrophy, Eryt...	ORPHA:3162
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Hypoplast...	OMIM:608836
Lethal Congenital Contracture Syndrome Type 1	Short stature, Recurrent fractures, Limitation of joint mobility, Slender long bone, Abnormal hip...	ORPHA:1486
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Depressed nasal ridge, Meta...	OMIM:300863
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Sandal gap, Anteverted nares, Short stature, Synophrys, Short toe, High palate, Clino...	OMIM:617877
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Short stature, Convex nasal ridge, Cleft soft palate, Intestinal malrotation, Flexion c...	OMIM:619321
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes...	OMIM:603041
12Q14 Microdeletion Syndrome	Wide nose, Diabetes mellitus, Short stature, Prominent nasal bridge, Intestinal malrotation, Oste...	ORPHA:94063
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Acne, Frontal balding, Precocious puberty,...	ORPHA:786
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Thick hair, Short stature, Micrognathia, Short tibia, Adactyly, ...	ORPHA:2751
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension, Failure to thrive, Long eyelashes	OMIM:616069
Hardikar Syndrome	Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Hepatomegal...	OMIM:301068
Cutaneous Mastocytoma	Telangiectasia of the skin, Maculopapular exanthema, Abdominal pain, Diarrhea, Lymphadenopathy, V...	ORPHA:79455
3-Hydroxyisobutyric Aciduria	Intrauterine growth retardation, Hypogonadotropic hypogonadism, Triangular face	ORPHA:939
Say-Barber-Miller Syndrome	Patellar hypoplasia, Knee flexion contracture, High palate, Abnormal facial shape, Decreased circ...	ORPHA:3132
Hereditary Fructose Intolerance	Episodic hyperhidrosis, Hypermagnesemia, Growth delay, Hyperuricemia, Hypophosphatemia	ORPHA:469
Cranioectodermal Dysplasia 2	Micrognathia, Renal cyst, Sparse hair, Atrial septal defect, Patent foramen ovale, Joint laxity, ...	OMIM:613610
Witteveen-Kolk Syndrome	Narrow face, Decreased response to growth hormone stimulation test, Proximal placement of thumb, ...	OMIM:613406
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Osteoporosis, Nail pits, Premature gray...	OMIM:127550
Maternal Uniparental Disomy Of Chromosome 6	Eczema, Cleft palate, Hydrocele testis, Slender long bone, Increased serum testosterone level, In...	ORPHA:96181
Isaacs Syndrome	Hyperhidrosis, Weight loss	ORPHA:84142
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os...	OMIM:112250
Jacobsen Syndrome	Pachygyria, Broad columella, Long hallux, Abnormality of the anus, Broad hallux phalanx, Finger s...	ORPHA:2308
X-Linked Sideroblastic Anemia	Splenomegaly, Glucose intolerance, Anemia, Abnormality of iron homeostasis	ORPHA:75563
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Narrow face, Small scrotum, Sandal gap, Eczema, Broad nasal tip, Long fingers, Recu...	OMIM:620330
Verheij Syndrome	Joint laxity, Vertebral fusion, Square face, Small for gestational age, Anteverted nares, Short s...	OMIM:615583
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Coarse facial features, Thick hair, Synophrys, Low posterior hairline, Truncal obesity, Short nos...	ORPHA:2429
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy...	OMIM:123550
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S...	OMIM:616950
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa...	ORPHA:75565
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H...	OMIM:607823
Kaufman Oculocerebrofacial Syndrome	Narrow face, Congenital hip dislocation, Anteverted nares, Depressed nasal bridge, Intestinal mal...	OMIM:244450
Short Syndrome	Alopecia, Diabetes mellitus, Severe short stature, Weight loss, Joint hyperflexibility, Short pal...	ORPHA:3163
Alkuraya-Kucinskas Syndrome	Small scrotum, Overlapping toe, Anteverted nares, Depressed nasal bridge, Micropenis, Cutaneous s...	OMIM:617822
Au-Kline Syndrome	High palate, Gastroesophageal reflux, Clinodactyly of the 5th finger, Bifid uvula, Long face, Sag...	OMIM:616580
Focal Dermal Hypoplasia	Acute hepatic failure, Abnormality of the nail, Finger syndactyly, Alopecia, Multicystic kidney d...	ORPHA:2092
Myhre Syndrome	Hypoplastic iliac wing, Sparse hair, Atrial septal defect, Vertebral fusion, Short stature, Peric...	OMIM:139210
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr...	OMIM:619652
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Synophrys, Gastroesophageal reflux, Joint contracture of the 5th finger, Clinodactyly...	ORPHA:363611
Familial Calcium Pyrophosphate Deposition	Arthritis, Osteoarthritis, Limitation of joint mobility, Calcification of cartilage	ORPHA:1416
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, Intestinal malro...	ORPHA:436252
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Flat face	OMIM:616994
Peeling Skin Syndrome 1	Brittle hair, Short stature, Pruritus, Increased circulating IgE level, Onycholysis, Nail dystrop...	OMIM:270300
Miller-Dieker Lissencephaly Syndrome	Anteverted nares, Pachygyria, Cryptorchidism, Wide nasal bridge, Cleft palate, Gray matter hetero...	OMIM:247200
Brucellosis	Elevated circulating C-reactive protein concentration, Anorexia, Knee osteoarthritis, Leukopenia,...	ORPHA:1304
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Wide nasal bridge, S...	ORPHA:2774
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Camptodactyly of finger, Limitation of joint mobility, Symphalangism affecti...	ORPHA:2547
20Q13.33 Microdeletion Syndrome	Hallux valgus, Triangular face, Small for gestational age, Failure to thrive in infancy, Hypospad...	ORPHA:261311
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Round face, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Macroglossia, Talipes equinovar...	OMIM:616789
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Increased cir...	ORPHA:85410
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ...	ORPHA:101096
Malignant Peritoneal Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss	ORPHA:168811
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Femoral bowing	OMIM:126550
Chromosome 14Q11-Q22 Deletion Syndrome	Triangular face, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Depressed nasal bridge...	OMIM:613457
Kbg Syndrome	Syndactyly, Round face, Vertebral fusion, Anteverted nares, Prominent nasal bridge, Short stature...	OMIM:148050
Cranio-Osteoarthropathy	Eczema, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation o...	ORPHA:1525
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Anorexia, Poor appetite, Splenomegaly, Weight loss, Lymphadenopathy, Bon...	ORPHA:391
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Depressed nasal...	OMIM:608022
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Mercury Poisoning	Tachycardia, Anorexia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury	ORPHA:330021
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Short stature, Dysmenorrhea, Elevated circulating creatine kinase concentra...	ORPHA:264580
Bone Marrow Failure Syndrome 3	Metaphyseal dysplasia, Congenital hip dislocation, Short stature, Eczema, Joint hypermobility, Pa...	OMIM:617052
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Absent radius, Ulnar bowing, Split...	OMIM:171480
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cryptorchidism, Hip dysplasia, Delayed puberty, Short nose, Long face	ORPHA:496790
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Premature graying of hair, Nail dystrophy, Bo...	OMIM:619767
Van Maldergem Syndrome 2	Bifid scrotum, Osteopenia, Short fourth metatarsal, Anteriorly placed anus, Cutaneous syndactyly ...	OMIM:615546
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Anorexia, Hyperammonemia, Weight loss, Hypertension, Agitation, Hyperuri...	ORPHA:134
Hereditary Mucoepithelial Dysplasia	Alopecia, Abnormality of the bladder, Hematuria, Fine hair, Sparse hair	ORPHA:1839
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Wagro Syndrome	Proteinuria, Micrognathia, Aggressive behavior, Obesity, Hypertension, Agitation, Compulsive beha...	OMIM:612469
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A...	ORPHA:95494
Lig4 Syndrome	Psoriasiform dermatitis, Small for gestational age, Prominent nose, Cryptorchidism, Hypothyroidis...	OMIM:606593
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive	OMIM:612075
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp...	ORPHA:73
Anaplastic Thyroid Carcinoma	Tracheoesophageal fistula, Lymphadenopathy, Weight loss, Anaplastic thyroid carcinoma, Dysphagia,...	ORPHA:142
Fanconi Anemia	Abnormal femur morphology, Reduced bone mineral density, High palate, Abnormality of the uterus, ...	ORPHA:84
Eiken Syndrome	Short stature, Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular...	OMIM:600002
Arthrogryposis, Distal, Type 2B1	Short stature, Camptodactyly of finger, Rocker bottom foot, Metatarsus adductus, Calcaneovalgus d...	OMIM:601680
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Increased circulati...	ORPHA:562639
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ...	ORPHA:793
Arthrogryposis, Distal, Type 2B3	Hallux valgus, Ulnar deviation of the hand, Short stature, Talipes equinovarus, Camptodactyly, Ov...	OMIM:618436
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Anorexia, Infectious encephalitis, Acne, Abd...	ORPHA:117
Acromegaly	Dysmenorrhea, Osteoarthritis, Wide penis, Synophrys, Hyperhidrosis, Pituitary prolactin cell aden...	ORPHA:963
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ...	ORPHA:98897
Paroxysmal Hemicrania	Hypertension, Restless legs, Diabetes mellitus, Stiff neck	ORPHA:157835
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Anteverted nares, Depressed nasal bridge, Short stature, Cryptorchidism, Wide nasal b...	OMIM:616894
Incontinentia Pigmenti	Abnormal hand morphology, Uveitis, Hyperhidrosis, Abnormal toenail morphology, Spina bifida occul...	ORPHA:464
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Prader-Willi Syndrome Due To Translocation	External genital hypoplasia, Decreased response to growth hormone stimulation test, Anterior pitu...	ORPHA:177907
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, P...	OMIM:227330
Prolidase Deficiency	Arachnodactyly, Abnormal fingernail morphology, Depressed nasal bridge, Pruritus, Crusting erythe...	ORPHA:742
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge...	ORPHA:824
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid...	ORPHA:90280
Multiple Myeloma	Osteopenia, Hypercalcemia, Nephropathy, Elevated circulating creatinine concentration, Abnormalit...	ORPHA:29073
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Melas	Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Proteinuria, Short stature,...	ORPHA:550
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Acne, Increased circulating dehydroepiandrosterone-sulfate concentra...	OMIM:158330
Melnick-Needles Syndrome	Craniofacial hyperostosis, Bowing of the long bones, Short stature, Facial asymmetry, Coxa valga,...	ORPHA:2484
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Short stature, Dysmenorrhea, Elevated circulating creatine kinase concentra...	ORPHA:79240
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Anorexia, Leu...	ORPHA:50918
Acrocephalopolydactyly	Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, Brachydactyly	ORPHA:221054
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Membranoproliferative glomerulonephritis, Sparse eyelashes, Sparse scal...	OMIM:137940
Acromelic Frontonasal Dysostosis	Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,...	OMIM:603671
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Nephrotic syndrome, Mucopolysacchariduria, Generalized bone demineralization, Proteinuria	OMIM:215250
Donnai-Barrow Syndrome	Depressed nasal bridge, Intestinal malrotation, Wide anterior fontanel, Widow's peak, Bicornuate ...	ORPHA:2143
Systemic Capillary Leak Syndrome	Pericarditis, Abdominal pain, Myocarditis, Leukocytosis, Diarrhea, Weight loss, Hypotension, Arrh...	ORPHA:188
Congenital Factor Xiii Deficiency	Epistaxis, Cerebral hemorrhage, Inflammation of the large intestine, Myeloid leukemia, Hepatic fa...	ORPHA:331
Porphyria, Congenital Erythropoietic	Osteopenia, Absent eyebrow, Alopecia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Loss o...	OMIM:263700
Meier-Gorlin Syndrome 5	Short stature, Cryptorchidism, Irregular femoral epiphysis, Patellar aplasia, Clinodactyly, Submu...	OMIM:613805
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Hypertriglyceridemia, Absent...	ORPHA:363618
Hallermann-Streiff Syndrome	Sparse scalp hair, Hyperactivity, Sparse eyelashes, Small for gestational age, Proportionate shor...	OMIM:234100
Menke-Hennekam Syndrome 2	Narrow nasal bridge, Square face, Sandal gap, Overlapping toe, Depressed nasal bridge, Duodenal u...	OMIM:618333
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth retardation, Apla...	OMIM:266810
Short Syndrome	Joint laxity, Enlarged epiphyses, Small for gestational age, Underdeveloped nasal alae, Insulin-r...	OMIM:269880
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Short stature, Elevated circulating creatine kinase concentratio...	OMIM:619518
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis,...	ORPHA:29207
Gaucher Disease, Type I	Hepatomegaly, Epistaxis, Splenomegaly, Pathologic fracture, Hypertension, Mitral regurgitation, P...	OMIM:230800
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Skin rash, Abnormality of...	ORPHA:33276
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Small for gestational age, Alopecia totalis, Elevated circulating c...	OMIM:618775
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Failure to thrive in infancy, Anteverted nares, Depressed nasal bri...	OMIM:618829
Tetrasomy 12P	Coarse facial features, Anteverted nares, Short stature, Cachexia, Sparse eyebrow, Abnormal soft ...	ORPHA:884
Non-Acquired Panhypopituitarism	Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A...	ORPHA:90695
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Hypospadias, Anteverted nares, Proximal placement of thumb, Depressed nasal bridge, C...	OMIM:217980
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Abnormality of the parathy...	ORPHA:2552
Plague	Glossitis, Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, Inf...	ORPHA:707
Xp21 Deletion Syndrome	Joint laxity, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine ...	ORPHA:261476
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Gastrointestina...	ORPHA:531151
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hip dislocation, Flat face, Short stature, Coxa valga	OMIM:109120
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Hypospadias, Prominent nasal bridge, Proximal placement of thumb, Tapered f...	ORPHA:251071
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Cognitive impairment, Dystonia	ORPHA:309246
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Facial asymmetry, Tapered finger, Long fingers, Flexion contracture, Low anterior hairline, 2-3 t...	OMIM:218000
Neurodegeneration With Brain Iron Accumulation 1	Ataxia, Akinesia, Tremor, Depression, Blepharospasm, Choreoathetosis, Bradykinesia, Dementia, Gai...	OMIM:234200
Familial Expansile Osteolysis	Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex	OMIM:174810
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Short stature, Cardi...	OMIM:256550
Joubert Syndrome 14	Ventricular septal defect, Postaxial polydactyly, Highly arched eyebrow, Renal cyst, Intracranial...	OMIM:614424
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, High, narrow palate, Osteoarthritis, Gastrointestinal infarctions, Pe...	ORPHA:286
Acquired Hypertrichosis Lanuginosa	Poor appetite, Chronic diarrhea, Weight loss, Ovarian neoplasm, Macroglossia, Lymphadenopathy, Gl...	ORPHA:2221
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl...	OMIM:106300
Mitochondrial Complex I Deficiency, Nuclear Type 28	Choreoathetosis, Akinesia, Truncal ataxia	OMIM:618249
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Diarrhea, Neuromuscular dysphagia, Intracranial he...	ORPHA:449285
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Multicystic kidney dysplasia, Wide nose, Hypospadias, Small for gestational age, A...	OMIM:257300
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Metaphyseal widening, High palate, Gastroesophageal reflux, Clinodactyly of the 5th f...	OMIM:620083
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Weight loss, Lymphadenopathy	ORPHA:99978
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Malabsorption...	ORPHA:83471
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Sparse body hair	ORPHA:69735
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ...	ORPHA:443811
Odontochondrodysplasia	Bowing of the long bones, Depressed nasal bridge, Short stature, Micromelia, Coxa valga, Cone-sha...	ORPHA:166272
Al Kaissi Syndrome	Depressed nasal bridge, Short stature, Broad nasal tip, Postnatal growth retardation, High, narro...	OMIM:617694
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree at...	OMIM:115197
Cockayne Syndrome A	Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac win...	OMIM:216400
Orofaciodigital Syndrome I	Microretrognathia, Syndactyly, Dry hair, Alopecia, Proteinuria, Short stature, Pancreatic cysts, ...	OMIM:311200
Gm1 Gangliosidosis	Ventricular septal defect, Splenomegaly, Congestive heart failure, Hepatosplenomegaly, Abnormal h...	ORPHA:354
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, 2-3 toe cutaneous syndactyly, Laryngotracheomalacia, Renal cyst, Microphallus, Cli...	OMIM:618454
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Synophrys, Low anterior hairline, Long fibula, Joint laxity, Depressed nasal bridge, Short statur...	OMIM:610442
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Short stature, Thick hair, Abnormal hair pattern, Long ey...	ORPHA:1514
Autosomal Recessive Primary Microcephaly	Short stature, Growth delay, Gray matter heterotopia, Abnormal cortical bone morphology, Pachygyria	ORPHA:2512
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec...	OMIM:256700
Clark-Baraitser Syndrome	Depressed nasal bridge, Sandal gap, Anteverted nares, Obesity, High palate, Clinodactyly, Short n...	OMIM:617752
Pituicytoma	Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr...	ORPHA:251623
Nelson Syndrome	Increased urinary cortisol level, Quadriceps muscle atrophy, Pituitary corticotropic cell adenoma...	ORPHA:199244
Somatomammotropinoma	Synophrys, Osteoarthritis, Pituitary prolactin cell adenoma, Abnormal toenail morphology, General...	ORPHA:314769
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Supernumerary nipple, Cachexia, Cr...	ORPHA:217346
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614495
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Mitral valve prolapse, Hypertension, Mitral regurgitation, Polycystic kidney...	OMIM:173900
X Small Rings	Joint laxity, Coarse facial features, Premature ovarian insufficiency, Toe syndactyly, Anteverted...	ORPHA:96201
Craniosynostosis With Fibular Aplasia	Cryptorchidism, Craniosynostosis, Fibular aplasia	OMIM:218550
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Coarse facial features, Overlapping toe, Anteverted nares, Flexion contractu...	OMIM:619383
Arthrogryposis Multiplex Congenita 6	Akinesia	OMIM:619334
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Gastroes...	OMIM:615873
Scalp-Ear-Nipple Syndrome	Sparse hair, Clinodactyly of the 5th finger, Supraventricular tachycardia, Finger syndactyly, Sho...	OMIM:181270
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Abdominal distention, In...	ORPHA:100086
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp...	OMIM:612843
Temtamy Preaxial Brachydactyly Syndrome	Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syndactyly, Short...	ORPHA:363417
Fontaine Progeroid Syndrome	Small scrotum, High, narrow palate, Synophrys, Low anterior hairline, Anteriorly placed anus, Coa...	OMIM:612289
Kniest Dysplasia	Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartilage collagen, Genu varu...	OMIM:156550
Distal Deletion 15Q	2-3 toe cutaneous syndactyly, Generalized joint laxity, Finger clinodactyly, Micropenis, Multicys...	ORPHA:1596
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Diarrhea, Recurrent pneumonia, Hepatitis, Protracted diarrhe...	ORPHA:169160
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Pulmonary embolism, Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, St...	ORPHA:567546
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Cushing Disease	Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Diabetes mellitus, Para...	ORPHA:96253
Tbck-Related Intellectual Disability Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Synophrys, Abnormal f...	ORPHA:488632
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Arachnodactyly, Anteverted nares, Depressed nasal bridge, Short stature...	ORPHA:2719
Lipodystrophy, Congenital Generalized, Type 2	Cystic angiomatosis of bone, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, D...	OMIM:269700
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Flexion contracture, High palate, Micropenis, Long face, Hypospadias, Depressed nasal bridge, Sho...	OMIM:309590
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Long nose, Narrow greater sciatic notch, Abnormal facial shape, Decreased...	ORPHA:508533
Cardiofaciocutaneous Syndrome 3	Curly hair, Short stature, Ventricular septal defect, Reduced bone mineral density, Pulmonic sten...	OMIM:615279
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Knee flexion contracture, High pala...	ORPHA:3103
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB...	OMIM:232300
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Diencephalic Syndrome	Hyperhidrosis, Abnormality of the hypothalamus-pituitary axis, Cachexia, Decreased body weight	ORPHA:1672
Multicentric Reticulohistiocytosis	Arthritis, Cachexia	ORPHA:139436
Skin Creases, Congenital Symmetric Circumferential, 1	Depressed nasal bridge, Long fingers, Cleft palate, High palate, Hypoplastic nipples, Flat face	OMIM:156610
Lamellar Ichthyosis	Short stature, Pruritus, Hyperkeratosis, Sparse hair, Erythroderma, Chronic otitis media, Abnorma...	ORPHA:313
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Feeding difficulties in infan...	ORPHA:3208
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc...	ORPHA:555905
Robinow Syndrome	Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Webbed penis, Micropenis, Fused ...	ORPHA:97360
Deeah Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, High palate...	OMIM:619004
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Elevated circulating creati...	OMIM:212138
Sarcoidosis	Alopecia, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Renal insufficiency, Bone cyst, Enl...	ORPHA:797
Hajdu-Cheney Syndrome	Osteopenia, Synophrys, Renal cyst, High palate, Dislocated radial head, Joint laxity, Hypospadias...	OMIM:102500
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Joint hypermobility, Tapered finger, Flexion contracture, Hyperextensibility...	ORPHA:544503
Immunodeficiency 7	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypereosinophilia, Patchy alopecia, Neut...	OMIM:615387
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Anteverted nares, Thick hair, Short stature, Broad nasal tip, Pachygy...	ORPHA:357074
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati...	ORPHA:906
Werner Syndrome	Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Short stature, Osteoporosis, Re...	OMIM:277700
Follicular Lymphoma	Weight loss, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Bowing of the long bones, Congenital hip dislocation, Narrow nasal ridge, Bulbous nos...	OMIM:612940
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Depressed nasal ridge, Triangular shaped distal phalanges of the ...	OMIM:271665
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Depressed nasal bridge, C...	OMIM:616723
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Orthostatic hypotension, Tachycardia, Renal insufficiency, Abnormal...	ORPHA:1764
Opsismodysplasia	Abnormally ossified vertebrae, Severe short stature, Depressed nasal bridge, Tapered finger, Join...	ORPHA:2746
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Pericardial effusion, Feeding difficulties, Bradycardia,...	OMIM:614702
Steinert Myotonic Dystrophy	Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone...	ORPHA:273
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypospadias, Postaxial polydactyly, High palate, Abnormal facial shape, Triangular face, Long face	ORPHA:544254
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Failure to thrive, Hypoalbuminemia, Malabsorption	ORPHA:1954
Saethre-Chotzen Syndrome	Long nose, Low anterior hairline, Partial duplication of the distal phalanx of the 3rd finger, Cl...	OMIM:101400
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Triangular face, Arachnodactyly, Anteverted nares, Cachexia, Prominent nasal bri...	ORPHA:371364
16Q24.3 Microdeletion Syndrome	Anteverted nares, Proximal placement of thumb, Abnormal hair pattern, Highly arched eyebrow, Cryp...	ORPHA:261250
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig...	ORPHA:91351
Anauxetic Dysplasia 3	Short metacarpal, Severe short stature, Joint hypermobility, Hip subluxation, Wide anterior fonta...	OMIM:618853
Generalized Arterial Calcification Of Infancy	Adrenal calcification, Cardiomegaly, Abnormal calcification of the carpal bones, Nephrocalcinosis...	ORPHA:51608
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Arachnodactyly, Rocker bottom ...	ORPHA:3342
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Abnormal fingernail morphology, Dumbbell-shaped...	ORPHA:3144
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Bowing of the long bones, Hypospadias, Tarsal synostosis, Short h...	ORPHA:90652
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypospadias, Small for gestational age, Depressed nasal bridge, Convex nasal ridge, Short stature...	OMIM:300661
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Postnatal growth retardation, Limitation of joint mobility, Disproportionate short-trunk short st...	OMIM:313400
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Coxa vara, Decreased circulating IgG level, Genu varum, Rhizome...	OMIM:271510
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Hypoparathyroidism, Growth delay	ORPHA:496756
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Curly eyelashes, Short ...	ORPHA:1517
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Abnormal CD4:CD8 ratio, Autoimmune throm...	ORPHA:572
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio...	OMIM:615812
Desmosterolosis	Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Generalized osteosclerosis, Ambiguous gen...	OMIM:602398
Meckel Syndrome, Type 8	Depressed nasal ridge, Cleft palate, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasi...	OMIM:613885
Lipodystrophy, Congenital Generalized, Type 1	Cystic angiomatosis of bone, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Decreas...	OMIM:608594
Beckwith-Wiedemann Syndrome	Ureteral duplication, Adrenocortical cytomegaly, Elevated circulating alpha-fetoprotein concentra...	ORPHA:116
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Alopecia, Sparse eyelashes, Short stature, Decreased circulating...	OMIM:620040
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Angular cheilitis, Poor appetite, ...	ORPHA:35858
Familial Cold Urticaria	Arthritis, Polydipsia	ORPHA:47045
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Diabetes mellitus, Overweight, Intrahepatic cholestasis, Obesity, ...	ORPHA:69663
Undifferentiated Pleomorphic Sarcoma	Anorexia, Weight loss	ORPHA:2023
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thrombocytopenia, Chronic diarrhea,...	OMIM:102700
Mucopolysaccharidosis, Type Vii	Flexion contracture, Coarse hair, Narrow greater sciatic notch, Reduced leukocyte beta-glucuronid...	OMIM:253220
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl...	ORPHA:988
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614496
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Large for gestational age, Cardiomegaly, Low anterior hairline...	ORPHA:363705
Microcephaly-Capillary Malformation Syndrome	Brachydactyly, Wide nose, Small for gestational age, Short stature, Abnormal hair whorl, Simplifi...	OMIM:614261
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Pericardial effusion, Mediasti...	OMIM:181000
Recessive Dystrophic Epidermolysis Bullosa Inversa	Esophageal stricture, Anemia, Gastrointestinal inflammation	ORPHA:79409
Congenital Disorder Of Glycosylation, Type If	Wide anterior fontanel, Flexion contracture, Renal cortical cysts, Hyperkeratosis, Erythroderma, ...	OMIM:609180
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Sandal gap, Depressed nasal bridge, Facial asymmetry, Tapered finger, Synophrys, Bulbous nose, Lo...	OMIM:617061
Musculocontractural Ehlers-Danlos Syndrome	Recurrent skin infections, Craniosynostosis, Tapered finger, Cryptorchidism, Generalized joint la...	ORPHA:2953
Osteogenesis Imperfecta	Osteopenia, Short stature, Recurrent fractures, Rhizomelia, Small for gestational age, Fractures ...	ORPHA:666
Xeroderma Pigmentosum	Craniofacial hyperostosis, Alopecia, Short stature, Flat nasal alae, Keratitis, Cryptorchidism, H...	ORPHA:910
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Failure to thrive in infancy, Obesity, Broad nasal tip	OMIM:613670
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Short stature, Hip dislocation, Wide nasal bridge, Joint contracture, High palate, Li...	OMIM:618005
Legionnaires Disease	Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Splenomegaly, Jaundice, Myocarditis,...	ORPHA:549
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Tricuspid regurgitation, Elevated circulating aspa...	OMIM:620300
Wiskott-Aldrich Syndrome	Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Absent micr...	OMIM:301000
Infant Botulism	Hyponatremia, Cardiac arrest, Anorexia, Hypertension, Hypotension, Dysphagia	ORPHA:178478
Orofaciodigital Syndrome Type 4	Micromelia, Hypoplastic toenails, High, narrow palate, Depressed nasal ridge, Aplasia/Hypoplasia ...	ORPHA:2753
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal...	OMIM:300963
Moyamoya Disease 6 With Or Without Achalasia	Raynaud phenomenon, Hypertension, Ischemic stroke, Dysphagia	OMIM:615750
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Ketonuria, Acute hyperammonemia, Hyperglycinuria, Hyperammonemia, Organic aciduria, Hyp...	OMIM:210210
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Abnormal cartilage matrix	OMIM:245650
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Rat-Bite Fever	Pericarditis, Parotitis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Myo...	ORPHA:31205
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypospadias, Sparse eyelashes, Supernumerary nipple, Hyperconvex nail, Absent eyelashes, Oval fac...	OMIM:106260
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey...	ORPHA:2273
Adrenomyodystrophy	Short stature, Primary adrenal insufficiency, Megacystis, Reduced bone mineral density, Abnormali...	ORPHA:977
Chromosome 16P13.3 Duplication Syndrome	Proximal placement of thumb, Synophrys, Tracheobronchomalacia, Low anterior hairline, Bifid uvula...	OMIM:613458
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Reduced bone ...	ORPHA:1508
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Intellectual Developmental Disorder, Autosomal Dominant 1	Prominent nose, Depressed nasal ridge, Gastroesophageal reflux, Short palm, Clinodactyly of the 5...	OMIM:156200
Lujo Hemorrhagic Fever	Elevated circulating C-reactive protein concentration, Odynophagia, Fulminant hepatitis, Leukopen...	ORPHA:319213
Acromesomelic Dysplasia 4	Synophrys, Short metatarsal, Short phalanx of finger, Generalized hirsutism, Genu varum, Short me...	OMIM:619636
Adenylosuccinate Lyase Deficiency	Abnormal facial shape, Anteverted nares, Short nose	ORPHA:46
Schinzel-Giedion Syndrome	Renal cyst, Tibial bowing, Anteriorly placed anus, Choanal stenosis, High palate, Hepatoblastoma,...	ORPHA:798
Rhombencephalosynapsis	Finger syndactyly, Anteverted nares, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal...	ORPHA:59315
Ciliary Dyskinesia, Primary, 37	Female infertility, Bronchiectasis, Chronic rhinitis, Hypothyroidism, Goiter	OMIM:617577
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Joint laxity, Small for gestational age, Elevated circulating aspar...	OMIM:617093
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Pruritus, Follicular hyperkeratosis, Erythroderma, Alopecia of scalp	OMIM:608649
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Short stature, Sparse eyebrow, Avasc...	ORPHA:77258
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Synophrys, High palate, Gastroesophageal reflux, Recurrent aspiration pneumonia, Proportionate sh...	ORPHA:280633
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose, Small for gestational age, Short stature	OMIM:245570
Necrotizing Enterocolitis	Shock, Small for gestational age, Abdominal distention, Leukocytosis, Diarrhea, Peritonitis, Abno...	ORPHA:391673
Baker-Gordon Syndrome	Joint laxity, Prominent nasal tip, Short nose, Gastroesophageal reflux	OMIM:618218
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Short stature, Retinal telangiectasia, Metaphyseal sclerosi...	OMIM:612199
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Underdeveloped nasal alae, Crypt...	OMIM:619005
Ayme-Gripp Syndrome	Sparse scalp hair, Pericarditis, Depressed nasal bridge, Short stature, Tapered finger, Short nos...	OMIM:601088
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response	OMIM:609541
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Exaggerated startle response, Broad-based gait, Ataxia, Dystonia	ORPHA:438216
Adams-Oliver Syndrome 2	Alopecia, Depressed nasal bridge, Bulbous nose, Low anterior hairline, Absent distal phalanges, S...	OMIM:614219
Autosomal Recessive Faciodigitogenital Syndrome	Long face, Finger syndactyly, Dry hair, Hypopigmentation of hair, Anteverted nares, Down-sloping ...	ORPHA:1974
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se...	OMIM:619377
Gastrocutaneous Syndrome	Peptic ulcer, Hiatus hernia	OMIM:137270
Colonic Atresia	Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis	ORPHA:1198
Lethal Congenital Contracture Syndrome 2	Akinesia	OMIM:607598
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Wide anterio...	OMIM:259420
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, My...	ORPHA:892
Granulomatosis With Polyangiitis	Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C...	ORPHA:900
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Palmoplantar keratoderma, Erythroderma, Abno...	ORPHA:2897
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Coxa val...	OMIM:618150
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, Sparse hair, Patent f...	OMIM:619127
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Depressed nasal bridge, Long nose, Hypertrichosis, Slender long bone, High palate, Sh...	OMIM:618590
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Anteverted nares, Broad hallux, Depressed nasal bridge, Periventricular h...	OMIM:614105
Congenital Muscular Dystrophy Due To Lmna Mutation	Congestive heart failure, Arrhythmia, Cachexia, Feeding difficulties	ORPHA:157973
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Palmoplan...	ORPHA:2309
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Hyperpepsinogenemia I, Duodenal ulcer, Hypergastrinemia	OMIM:126840
Acitretin/Etretinate Embryopathy	Conotruncal defect, Hypoplasia of the thymus, High palate, Bradycardia, Third degree atrioventric...	ORPHA:40366
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Reduced beta-hexosaminidase activity, Cardiomegaly, Chroni...	OMIM:268800
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Pericardial effusion, Myocarditis, Leukocytosis, Hepat...	ORPHA:292
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Anteverted nares, Abnormality of hair texture, Concave nail, Decr...	OMIM:234050
Pituitary Gigantism	Premature pubarche, Coarse facial features, Elevated circulating growth hormone concentration, Hy...	ORPHA:99725
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Triangular face, Broad hallux, Arachnodactyly, Anteverted nares, Joint hypermobility, Bulbous nos...	ORPHA:481152
Alveolar Echinococcosis	Eosinophilia, Portal hypertension, Abnormal pericardium morphology, Pancreatic cysts, Cholangitis...	ORPHA:284
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Short stature, Autoimmunity, Autoimmune thrombocytopenia, Neutropeni...	OMIM:615952
Acute Monoblastic/Monocytic Leukemia	Ankle swelling, Anorexia, Oliguria, Central hypothyroidism, Weight loss, Increased circulating la...	ORPHA:514
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Aplasia/Hypoplasia of the gallbladder, Clin...	ORPHA:264450
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, P...	OMIM:256040
Cockayne Syndrome	Dry hair, Urinary incontinence, Congenital contracture, Hepatomegaly, Cryptorchidism, Renal hypop...	ORPHA:191
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Shox-Related Short Stature	Short stature, Micrognathia, Obesity, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth...	ORPHA:314795
Poikiloderma With Neutropenia	Elevated circulating creatine kinase concentration, Conjunctivitis, Joint laxity, Depressed nasal...	OMIM:604173
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,...	ORPHA:2902
Chronic Hiccup	Malnutrition, Weight loss	ORPHA:396
Dyskeratosis Congenita, X-Linked	Ridged nail, Pterygium of nails, Hyperhidrosis, Premature graying of hair, Conjunctivitis, Split ...	OMIM:305000
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Dispr...	ORPHA:2634
Three M Syndrome 3	Prominent nasal tip, Small for gestational age, Anteverted nares, Short stature, Growth delay, Sl...	OMIM:614205
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Joint laxity, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Short stature, Pos...	OMIM:613563
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ...	OMIM:618986
Cousin Syndrome	Ambiguous genitalia, female, Low anterior hairline, Prominent protruding coccyx, Ambiguous genita...	OMIM:260660
Fanconi Anemia, Complementation Group L	Absent thumb, Absent radius, Esophageal atresia, Wide nasal bridge, Tracheoesophageal fistula, De...	OMIM:614083
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ...	ORPHA:99827
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Bilateral cleft lip and palate, Broad thumb, Clinodactyly of the 5th fing...	ORPHA:2001
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Depressed nasal ridge, Intrauterine growth retardation, Short nose, Median clef...	ORPHA:1832
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the...	ORPHA:99889
16P13.11 Microdeletion Syndrome	Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Short stature, Cryptorchidism,...	ORPHA:261236
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short palm, Short metacarpal, Single interphalangeal crease of fifth finger, Postnatal growth ret...	OMIM:611717
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Myocardial infarction, P...	ORPHA:447
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Hyperconvex nail, Highly arched eyebrow, Tapered finger, Broad nasal tip, ...	OMIM:239300
Jacobsen Syndrome	Hypospadias, Anteverted nares, Depressed nasal bridge, Abnormal eyelash morphology, Cryptorchidis...	OMIM:147791
Stickler Syndrome Type 1	Osteoarthritis, Cleft palate, Joint hyperflexibility, Abnormal epiphysis morphology, Abnormal ver...	ORPHA:90653
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Recurrent pneumonia, Growth delay, Decreased...	OMIM:612301
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Abnormality of urine homeostasis, Reduced bone mineral density	ORPHA:1414
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Nausea and vomiting, Elevated carcinoma antigen 125 level, Elevated cir...	ORPHA:370348
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:91355
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Hip d...	ORPHA:85170
Scorpion Envenomation	Bundle branch block, Increased circulating NT-proBNP concentration, Prominent U wave, Ketonuria, ...	ORPHA:466677
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczema, Impaired ADP-induced platelet aggregation, Menorrhagia...	OMIM:617443
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Round face, Anteverted nares, Pneumonia, Depressed nasal bridge, Diarrhea, Recurrent upper respir...	OMIM:614069
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture	ORPHA:77259
Miller-Dieker Syndrome	Anteverted nares, Growth delay, Lissencephaly, Clinodactyly of the 5th finger, Short nose	ORPHA:531
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Malabsorption, White hair, Fine hair, Reduced bone mineral density, Agamma...	ORPHA:935
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Alpha-N-Acetylgalactosaminidase Deficiency	Constipation, Recurrent pneumonia, Gastroesophageal reflux, Cardiomegaly	ORPHA:3137
Hand-Foot-Genital Syndrome	Bifid scrotum, Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Clinoda...	OMIM:140000
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, High palate, Hypoplasia of the thymus, Otitis media, N...	OMIM:612541
Hunter-Macdonald Syndrome	Aortic regurgitation, Epiphyseal dysplasia, Hypospadias, Short stature, Bicuspid aortic valve, Me...	OMIM:611962
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Anhidrosis, Alopecia, Abnormal fingernail morphology, Ankylosis, Osteolysis, Palmoplantar hyperhi...	ORPHA:659
Hyperaldosteronism, Familial, Type Iv	Hypertension, Hyperaldosteronism	OMIM:617027
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Acne, Seborrheic dermatitis, Secretory diarrhea, Hyperhidrosis, Periosteal thickening of long tub...	OMIM:167100
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Multinodular goiter, Nail dystrophy	OMIM:618373
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Anteverted nares, Depressed nasal bridge, Tapered finger, Coxa valga, Cryptorchidism...	OMIM:301040
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Spider hemangioma, Hyperlipidemia, Gout, Hematuri...	OMIM:232240
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Advanced ossification of carpal...	OMIM:269250
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Gastroesophageal refl...	ORPHA:268261
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Maternal Uniparental Disomy Of Chromosome 2	Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te...	ORPHA:96179
Renal Hypodysplasia/Aplasia 1	Proteinuria, Hypertension, Bilateral renal agenesis, Talipes equinovarus, Renal dysplasia	OMIM:191830
Alexander Disease Type I	Failure to thrive, Vomiting, Cachexia, Dysphagia	ORPHA:363717
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension, Hepatic cysts, Polycystic kidney dysplasia, Decreased liver function	OMIM:600666
Kid Syndrome	Angular cheilitis, Equinus calcaneus, Posterior blepharitis, Scarring alopecia of scalp, Recurren...	ORPHA:477
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Short stature, Obesi...	ORPHA:98907
Gastrocutaneous Syndrome	Type II diabetes mellitus, Peptic ulcer, Hiatus hernia	ORPHA:2069
Monosomy 9P	Hypospadias, Thin nail, Highly arched eyebrow, Proximal placement of thumb, Abnormality of the ta...	ORPHA:261112
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis	OMIM:259730
Rheumatoid Arthritis	Swan neck-like deformities of the fingers, Elevated circulating C-reactive protein concentration,...	OMIM:180300
Hsd10 Disease, Infantile Type	Abnormal circulating enzyme concentration or activity, Cardiomegaly, Gastrointestinal dysmotility...	ORPHA:391428
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ...	OMIM:618019
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension	ORPHA:401945
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Gastritis, Alopecia, Autoimmunity...	ORPHA:809
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia	OMIM:618056
Lipoid Proteinosis Of Urbach And Wiethe	Memory impairment, Patchy alopecia	OMIM:247100
Camurati-Engelmann Disease	Sclerosis of skull base, Cortical thickening of long bone diaphyses, Increased bone mineral densi...	OMIM:131300
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Round face, Depressed nasal bridge, Joint stiffness, Wide nasal ...	ORPHA:2062
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis	OMIM:612840
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Short stature, Autoimmunity, Short iliac bones, Metaphyseal sclerosis, Aut...	OMIM:607944
Mosaic Trisomy 9	Hypoplasia of penis, Rocker bottom foot, Camptodactyly of finger, Micromelia, Intestinal malrotat...	ORPHA:99776
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Abnormal circulating cholesterol con...	ORPHA:399
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Insulin-resistant di...	OMIM:151660
Tetrasomy 9P	Myositis, High palate, Clinodactyly of the 5th finger, Micropenis, Pachygyria, Bifid uvula, Absen...	ORPHA:3310
Fetal Trimethadione Syndrome	Hypospadias, Depressed nasal bridge, Synophrys, High palate, Ambiguous genitalia, Intrauterine gr...	ORPHA:1913
Noonan Syndrome	Abnormal hair quantity, Hypogonadotropic hypogonadism, Short stature, Cryptorchidism, Low posteri...	ORPHA:648
Simpson-Golabi-Behmel Syndrome	Hypoplasia of penis, Congenital hip dislocation, High, narrow palate, Clinodactyly of the 5th fin...	ORPHA:373
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Short thumb, High, narrow ...	ORPHA:3258
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, Seborrheic dermatitis, 2-4 toe syndactyly, Hyperparakeratosis, Hydrocele testis, Fo...	ORPHA:276280
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Abdominal pain, Splenomegaly, Leukocytosis, Splenic...	OMIM:603903
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Short stature, Generalized hirsutism, Elevated circulating creatine kinase concentration	ORPHA:1933
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Multiple Sulfatase Deficiency	Coarse facial features, Broad hallux, Anteverted nares, Short stature, Broad thumb, Flat face	OMIM:272200
Arboleda-Tham Syndrome	Bilateral cryptorchidism, Conjunctivitis, Gastroesophageal reflux, Chronic otitis media, Sparse m...	OMIM:616268
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Alopecia totalis, Joint stiffness	ORPHA:1366
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Reduced bone mineral densit...	ORPHA:848
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Bruck Syndrome	Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Osteoporosis, Tali...	ORPHA:2771
Fumarase Deficiency	Necrotizing enterocolitis, Failure to thrive, Decreased fumarate hydratase activity, Intrahepatic...	OMIM:606812
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Renal artery aneurysm, Portal hypertension, Elevated...	OMIM:615688
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Diarrhea, Bronchiectasis, Weight loss, Lymphadenopathy	ORPHA:411703
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Sandal gap, Alopecia totalis, Widely spaced toes, Absent fingernail, Clinodactyly of ...	OMIM:609638
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn...	OMIM:227270
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Clinodactyly of the 5th finger, Short nose, Anteverted nares, Rocker bottom foot	OMIM:618506
Transketolase Deficiency	Proportionate short stature, Seborrheic dermatitis, Uveitis, Secondary amenorrhea, Renal cyst, Co...	ORPHA:488618
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Dilated ...	OMIM:610768
Pallister-Killian Syndrome	Small scrotum, Congenital hip dislocation, Flexion contracture, Renal cyst, Anteriorly placed anu...	OMIM:601803
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Allergic Bronchopulmonary Aspergillosis	Pulmonary arterial hypertension, Abnormal eosinophil morphology, Bronchiectasis, Weight loss	ORPHA:1164
Icf Syndrome	Depressed nasal bridge, Short stature, Protruding tongue, Malabsorption, Decreased circulating an...	ORPHA:2268
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Feeding difficulties, Hypotension, Postural hypotension with compensat...	ORPHA:369873
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Small for gestational age, Rocker bottom foot, Recurrent fractures, Micrognathia, ...	ORPHA:453510
Tay-Sachs Disease	Short attention span, Exaggerated startle response, Tremor, Inability to walk, Dysmetria, Depress...	ORPHA:845
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ...	OMIM:168000
Nizon-Isidor Syndrome	Hypospadias, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Sparse eyebrow, Lo...	OMIM:618872
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Hyperhidrosis, Knee flexion co...	ORPHA:3206
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Acrocallosal Syndrome	High palate, Clinodactyly of the 5th finger, Micropenis, Bifid uvula, Finger syndactyly, Hypospad...	OMIM:200990
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Finger syndactyly, Toe syndactyly, Nail pits, Fine ha...	ORPHA:978
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Impaired glucose tolerance, Long eyebrows, Tapered finger, Long fingers, Growth delay, Glucose in...	OMIM:614407
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ...	ORPHA:758
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Failure to thrive, Anteverted nares, Highly arched eyebrow, Protruding tongu...	ORPHA:96147
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent...	OMIM:300257
Potocki-Lupski Syndrome	Small for gestational age, Short stature, Oral-pharyngeal dysphagia, High palate, Gastroesophagea...	OMIM:610883
Incontinentia Pigmenti	Ridged nail, Alopecia, Short stature, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits...	OMIM:308300
Arthrogryposis, Distal, Type 5	Arachnodactyly, Short stature, Limited wrist extension, Absent phalangeal crease, Distal arthrogr...	OMIM:108145
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Coarse facial features, Overlapping toe, Intestinal malrotation, Hiatus hernia, Precocious pubert...	OMIM:616682
Femoral-Facial Syndrome	Short fourth metatarsal, Maternal diabetes, Limited elbow movement, Gastroesophageal reflux, Abno...	OMIM:134780
Adult Acute Respiratory Distress Syndrome	Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Abnormal circula...	ORPHA:70578
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Prominent nasal bridge, Highly arched eyebrow, Synophrys, Bulbous nose, L...	OMIM:618828
Phakomatosis Pigmentokeratotica	Nephroblastoma, Raynaud phenomenon, Precocious puberty, Cryptorchidism, Renal transitional cell c...	ORPHA:2874
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato...	OMIM:276700
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Hirsutism, Amenorrhea	OMIM:184700
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, ...	OMIM:242700
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Autoimmunity, Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Juve...	ORPHA:275
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Intestinal polyposis, Wide nose, Anteverted nares, Short stature,...	ORPHA:109
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Round face, Coarse facial features, Abnormality of the pineal gland, Eczema, Seborrheic dermatiti...	ORPHA:369950
Rhiny	Short nose, Anteverted nares	OMIM:180360
Cirrhosis, Familial	Jaundice, Fulminant hepatitis, Increased level of L-fucose in urine, Hypertension, Increased leve...	OMIM:215600
Trisomy 10P	Simplified gyral pattern, High palate, Gastroesophageal reflux, Abnormal facial shape, Abnormal h...	ORPHA:171929
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hepatomegaly, Cryptorchidism, Jaundice, Cleft palate, Abnormal heart morphology, Hypoplasia of th...	OMIM:214110
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Hypoplastic toenails, Synophrys, Glossopto...	ORPHA:444077
Sneddon Syndrome	Hypertension, Bicuspid aortic valve, Ischemic stroke, Cerebral hemorrhage	OMIM:182410
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Coarse facial features, Anteverted nares, Depressed nasal bridge, Large for gest...	OMIM:300868
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma, Failure to thrive, Hypoalbuminemia	OMIM:227090
Craniolenticulosutural Dysplasia	Osteopenia, Joint laxity, Brittle hair, Anteverted nares, Prominent nasal bridge, Short stature, ...	OMIM:607812
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Spermatocele, Obstructive azoospermia	OMIM:301060
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Elevated circulating creatine kinase concentration, Limited elbow movement, Cardiom...	ORPHA:268
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality...	ORPHA:3035
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Jaundice, Diarrh...	ORPHA:677
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis	OMIM:618541
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc...	OMIM:224300
Maxillonasal Dysplasia, Binder Type	Short nose, Short columella, Depressed nasal bridge, Short distal phalanx of finger	OMIM:155050
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T...	ORPHA:228308
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase...	OMIM:617713
Pneumocystosis	Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Inc...	ORPHA:723
Mucopolysaccharidosis Type 2, Severe Form	Flexion contracture, Abnormal tricuspid valve morphology, Short stature, Hepatosplenomegaly, Card...	ORPHA:217085
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Hypoplastic fingernail, Triangular face, Coarse facial features, Short stature, Prominent nose, H...	ORPHA:1292
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu recurvatum, Limited hip extension, Flexion contracture, Tibial bowing, Knee dislocation, Sho...	OMIM:143095
Localized Junctional Epidermolysis Bullosa	Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atro...	ORPHA:251393
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo...	OMIM:605373
Ciliary Dyskinesia, Primary, 46	Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Reduced sperm m...	OMIM:619436
X-Linked Acrogigantism	Increased body mass index, Decreased thyroid-stimulating hormone level, Enlarged pituitary gland,...	ORPHA:300373
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Joint laxity, Depressed nasal bridge, Supernumerary nipple, Sparse eyebrow, Synophrys, Bulbous no...	OMIM:620098
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Jaw claudication, Weight loss, Feeding diff...	ORPHA:221098
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Multicystic kidney dysplasia, Wide nose, Short stature, Vaginal neoplasm, D...	ORPHA:1052
Localized Scleroderma	Fasciitis, Abnormal skin adnexa morphology, Autoimmunity, Abnormality of the nose, Flexion contra...	ORPHA:90289
Cree Mental Retardation Syndrome	Bifid scrotum, Hypospadias, Rocker bottom foot, Cleft soft palate, Cryptorchidism, Cutaneous fing...	OMIM:606851
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Anteverted nares, Postaxial polydactyly, Abnormal hair whorl, Hip dysplasia, Aplasi...	ORPHA:457284
Distal Deletion 19P	Long toe, Alopecia, Vaginal hernia, Arachnodactyly, Cleft palate, Decreased circulating antibody ...	ORPHA:96129
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, High palate, Arachnodactyly, Antev...	ORPHA:536467
Sclerosteosis 1	Large face, Syndactyly, Depressed nasal bridge, Sclerotic scapulae, Irregular menstruation, 2-3 f...	OMIM:269500
Linear Skin Defects With Multiple Congenital Anomalies 2	Short stature, Sandal gap, Highly arched eyebrow, Nail dystrophy, Short nose	OMIM:300887
Camptodactyly Syndrome, Guadalajara, Type Iii	Absent phalangeal crease, Joint contracture of the hand, Webbed neck, Micropenis, Spina bifida oc...	OMIM:611929
Chopra-Amiel-Gordon Syndrome	Short stature, Postnatal growth retardation, Flared nostrils, Cleft palate, High anterior hairlin...	OMIM:619504
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ventricular septal d...	ORPHA:411709
Partington Syndrome	Flexion contracture, Triangular face, Camptodactyly	OMIM:309510
Mcdonough Syndrome	Cryptorchidism, Synophrys, Short stature, Cachexia	ORPHA:2471
Holoprosencephaly 7	Bilateral cleft palate, Unilateral cleft palate, Flat nasal alae, Synophrys, Absent nasal septal ...	OMIM:610828
X-Linked Intellectual Disability, Cabezas Type	Toe syndactyly, Short stature, Camptodactyly of finger, Abnormal hair pattern, Cachexia, Sandal g...	ORPHA:85293
Ogden Syndrome	Congenital hip dislocation, Maternal diabetes, High palate, Vomiting, Clinodactyly of the 5th fin...	OMIM:300855
Scrub Typhus	Nausea and vomiting, Anterior uveitis, Skin rash, Abdominal pain, Myocarditis, Splenomegaly, Lymp...	ORPHA:83317
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea	ORPHA:3217
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Impaired glucose tolerance, Short stature, Splenomegaly, Postaxial hand polydactyly, Cone-shaped ...	OMIM:615630
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Keratitis, Weight loss, Abn...	ORPHA:1018
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bil...	OMIM:119800
Cystic Fibrosis	Hypercalciuria, Steatorrhea, Failure to thrive, Pancreatitis, Exocrine pancreatic insufficiency	OMIM:219700
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepato...	ORPHA:99931
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Anorexia, Reye s...	ORPHA:20
Toluene Embryopathy	Cryptorchidism, Short nose, Short stature, Tapered finger	ORPHA:1920
Andersen Cardiodysrhythmic Periodic Paralysis	Short metatarsal, High palate, Short palm, Clinodactyly of the 5th finger, Short phalanx of finge...	OMIM:170390
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Bile duct pro...	OMIM:607626
Livedoid Vasculopathy	Enlargement of the ankles, Diabetes mellitus, Telangiectasia of the skin, Abnormal foot morpholog...	ORPHA:542643
Down Syndrome	Joint laxity, Sandal gap, Aganglionic megacolon, Short stature, Protruding tongue, Hypoplastic il...	OMIM:190685
Olmsted Syndrome 1	Subungual hyperkeratosis, Flexion contracture, Hyperhidrosis, Nail dystrophy, Nail dysplasia, Spa...	OMIM:614594
Mucopolysaccharidosis Type 2, Attenuated Form	Flexion contracture, Abnormal tricuspid valve morphology, Short stature, Hepatosplenomegaly, Card...	ORPHA:217093
Glutamine Deficiency, Congenital	Hypoglutaminemia, Anteverted nares, Depressed nasal bridge, Micromelia, Flexion contracture, Wide...	OMIM:610015
Oculodentodigital Dysplasia	Dry hair, Clinodactyly, Uveitis, Fragile nails, High palate, Joint contracture of the 5th finger,...	OMIM:164200
Acquired Von Willebrand Syndrome	Normocytic anemia, Gastrointestinal hemorrhage, Refractory anemia, Aortic regurgitation, Epistaxi...	ORPHA:99147
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T ...	ORPHA:760
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short lon...	OMIM:615503
Adenohypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:95512
Serotonin Syndrome	Restlessness, Tachycardia, Hypertension, Agitation, Hypotension, Hepatic failure, Acute kidney in...	ORPHA:43116
Prolidase Deficiency	Depressed nasal bridge, Eczema, Recurrent pneumonia, Crusting erythematous dermatitis, Low poster...	OMIM:170100
Neurofibromatosis Type 1	Abnormal hair quantity, Short stature, Recurrent fractures, Abnormality of the upper urinary trac...	ORPHA:636
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Rocker bottom foot, Abnormal cortical gyration, Long fin...	ORPHA:521426
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Uveitis, Bloody diarrh...	ORPHA:99826
Frank-Ter Haar Syndrome	Osteopenia, High palate, Short palm, Short phalanx of finger, Cortical irregularity, Acne, Anteve...	OMIM:249420
X-Linked Mandibulofacial Dysostosis	Short stature, Prominent nasal bridge, Cryptorchidism, High palate, Webbed neck, Triangular face,...	ORPHA:1131
Aspartylglucosaminuria	Joint laxity, Coarse facial features, Acne, Anteverted nares, Depressed nasal bridge, Short statu...	OMIM:208400
Mucopolysaccharidosis Type 2	Abnormal tricuspid valve morphology, Abnormal repetitive mannerisms, Oppositional defiant disorde...	ORPHA:580
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Coarse facial features, Anal stenosis, Anteverted nares, Depressed nasal bridge, Large for gestat...	OMIM:614080
Silver-Russell Syndrome 2	Short stature, 2-3 toe syndactyly, Hyperhidrosis, Thin skin, Clinodactyly of the 5th finger, Intr...	OMIM:618905
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia	ORPHA:217390
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Growth delay...	OMIM:223900
Acrodermatitis Enteropathica	Anorexia, Malabsorption, Poor appetite, Pustule, Chronic diarrhea, Cheilitis, Weight loss, Furrow...	ORPHA:37
Leukodystrophy, Hypomyelinating, 10	Arachnodactyly, Anteverted nares, Bulbous nose, Prominent eyelashes, Short nose, Failure to thriv...	OMIM:616420
Brachytelephalangic Chondrodysplasia Punctata	Calcaneal epiphyseal stippling, Thick nasal alae, Proportionate short stature, Broad nasal tip, P...	ORPHA:79345
3Q29 Microdeletion Syndrome	Narrow face, Hypospadias, Prominent nasal bridge, Facial asymmetry, Tapered finger, Joint hyperfl...	ORPHA:65286
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Postnatal growth retardation, Adrenocortic...	ORPHA:1435
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Fibular hypopl...	ORPHA:1788
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Glucose intolerance, Short middle phalanx of finger, Short stature, Fused cervical vertebrae	OMIM:309620
Lathosterolosis	Toe syndactyly, Anteverted nares, Bilobate gallbladder, Postaxial hand polydactyly, Osteoporosis,...	OMIM:607330
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Prominent nasal bri...	ORPHA:163746
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Absent nipple, Toe syndactyly, Hypoplastic scapulae, Renal agenesis, Micr...	OMIM:200980
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow face, Tapered finger, Synophrys, Obesity, Wide nasal bridge, Fine hair, Narrow palate, Lon...	OMIM:620250
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Coarse facial features, Rocker bottom foot, Postaxial polydactyly, Abnormal cortical gyration, Lo...	OMIM:617527
C Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Failure to thrive in infancy, Anteverted nares, Abn...	ORPHA:1308
Ataxia-Telangiectasia	Lymphopenia, Diabetes mellitus, Short stature, Elevated circulating alpha-fetoprotein concentrati...	OMIM:208900
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Wide nasal brid...	OMIM:617952
Marfanoid-Progeroid-Lipodystrophy Syndrome	Pes planus, Hyperextensibility of the finger joints, Arachnodactyly, Craniosynostosis, Long finge...	OMIM:616914
Seckel Syndrome	Sparse scalp hair, Short stature, Sandal gap, Craniosynostosis, Cachexia, Cone-shaped epiphysis, ...	ORPHA:808
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Arachnodactyly, Joint stiffness, Deviation of finger, Bilateral talipes equinovarus, Congenital f...	ORPHA:1154
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Short stature, Tapered finger, Dysphagia, Thick eyebrow	OMIM:618367
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Decreased thyroid-stimulating hormone level, Anteverted nares, Anterior pituitary hypoplasia, Red...	OMIM:613038
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula...	ORPHA:470
Autosomal Dominant Epidermolytic Ichthyosis	Hyperkeratosis, Weight loss, Palmoplantar keratoderma, Erythroderma	ORPHA:312
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Severe short stature, Coxa valga, Metatarsus adductus, Avascul...	ORPHA:2557
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Pycnodysostosis	Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit...	ORPHA:763
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Supernumerary nipple, Facial asymmetry, Wide anterior fontanel, Pylor...	ORPHA:457279
Christianson Syndrome	Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia	ORPHA:85278
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Medial flaring of the eyebrow, Long face, Ulnar deviation of the hand, Short stature, Proximal pl...	OMIM:620113
Ciliary Dyskinesia, Primary, 12	Short stature, Bronchiectasis, Abnormal central microtubular pair morphology of respiratory motil...	OMIM:612650
3Mc Syndrome 2	Hypospadias, Prominent nasal bridge, Highly arched eyebrow, Craniosynostosis, Postnatal growth re...	OMIM:265050
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Joint laxity, Arachnodactyly, Bilateral talipes equinovarus, Talipes equinovarus, High palate, Ca...	OMIM:615539
Fanconi Anemia, Complementation Group C	Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Absent thumb, Absent ra...	OMIM:227645
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Gastroesophageal reflux, ...	ORPHA:464306
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Small for gestational age, Rocker bottom foot, Calcaneovalgus deformi...	ORPHA:3078
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e...	OMIM:261740
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Supernumerary ni...	OMIM:263750
17Q11 Microdeletion Syndrome	Osteopenia, Bowing of the legs, Elevated circulating parathyroid hormone level, Pheochromocytoma,...	ORPHA:97685
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Rectal prolapse, Thick nasal septum, Hyperconvex fingern...	OMIM:303600
Hypertriglyceridemia 1	Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Pfeiffer Syndrome	Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, D...	OMIM:101600
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Aganglionic megacolon, Tapered finger, Wide nasal bridge, Hydrocele testis, Short columella, Cons...	OMIM:613603
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Decreased mobilit...	OMIM:164900
Cole-Carpenter Syndrome 2	Osteopenia, Short stature, Recurrent fractures, Postnatal growth retardation, High palate, Lambdo...	OMIM:616294
Ring Chromosome 13 Syndrome	Bifid scrotum, Aplasia/Hypoplasia of the thumb, Alopecia, Hypoplasia of the gallbladder, Hypospad...	ORPHA:96176
Sandifer Syndrome	Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ...	ORPHA:71272
Congenital Disorder Of Glycosylation, Type Iu	Short nose, High palate, Elevated circulating creatine kinase concentration, Congenital contracture	OMIM:615042
Cerebrooculonasal Syndrome	Sparse eyelashes, Anteverted nares, Craniosynostosis, Postaxial polydactyly, Sparse eyebrow, Prob...	OMIM:605627
Alström Syndrome	Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating...	ORPHA:64
Cutis Marmorata Telangiectatica Congenita	Hypertension, Bowing of the legs, Short lower limbs, Telangiectasia	OMIM:219250
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hy...	OMIM:610199
Melnick-Needles Syndrome	Micrognathia, Tibial bowing, Coarse hair, Frontal hirsutism, Ureteral stenosis, Cone-shaped epiph...	OMIM:309350
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, Distichiasis, High palate, Delayed puberty	ORPHA:2598
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, S...	OMIM:304120
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Broad hallux, Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Shortenin...	OMIM:614749
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Lobulated tongue, Clinodactyly of t...	OMIM:613443
Naxos Disease	Prolonged QRS complex, Cardiomegaly, Subungual hyperkeratosis, Sudden cardiac death, Sparse eyebr...	OMIM:601214
Ciliary Dyskinesia, Primary, 14	Male infertility, Absent inner dynein arms, Recurrent pneumonia, Abnormal axonemal organization o...	OMIM:613807
Peroxisome Biogenesis Disorder 11A (Zellweger)	Large face, Anteverted nares, Depressed nasal bridge, Wide anterior fontanel, Polymicrogyria, Ren...	OMIM:614883
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Bronch...	OMIM:617091
Immunodeficiency 68	Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count	OMIM:612260
Relapsing Polychondritis	Abnormal endocardium morphology, Glomerulopathy, Alopecia, Pericarditis, Renal insufficiency, Pro...	ORPHA:728
Toriello-Carey Syndrome	Aganglionic megacolon, Short stature, Sparse eyebrow, Cryptorchidism, Wide anterior fontanel, Pos...	ORPHA:3338
Alexander Disease	Osteopenia, Diabetes mellitus, Sudden cardiac death, Precocious puberty, Hypertension, Self-injur...	ORPHA:58
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Nodular Non-Suppurative Panniculitis	Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss, Panniculitis, Infla...	ORPHA:33577
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ...	OMIM:612422
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Anteverted nares, Short stature, Highly arched eyebrow, Wide nasal bridge, High palate, Decreased...	OMIM:618342
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Hypospadias, Anteverted nares, Choanal atresia, Short stature, Cryptorchidism, Widow'...	OMIM:616975
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Wide nose, Abnormal fingernail morphology, Supernumerary nipple, Craniosynostosis, Ab...	ORPHA:1521
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma	ORPHA:330064
Noonan Syndrome 1	Male infertility, Hypospadias, Failure to thrive in infancy, Short stature, Postnatal growth reta...	OMIM:163950
Arterial Tortuosity Syndrome	Aortic regurgitation, Joint laxity, Ventricular hypertrophy, Arachnodactyly, Micrognathia, Flexio...	OMIM:208050
Dermotrichic Syndrome	Depressed nasal bridge, Aganglionic megacolon, Proportionate short stature, Hyperconvex toenail, ...	ORPHA:99688
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Anteverted nares, Choanal atresia, Rec...	ORPHA:83
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven...	OMIM:306955
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Short stature, Ventricular septal defect, Shortened PR interval, ...	OMIM:614947
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Anteverted nares, Broad nasal tip, Cleft soft palate, Short stature, Wi...	OMIM:618529
Acromesomelic Dysplasia 1	Joint laxity, Short metacarpal, Radial bowing, Short nail, Broad metatarsal, Short toe, Hypoplasi...	OMIM:602875
Geleophysic Dysplasia 1	Osteopenia, Short palm, Round face, Anteverted nares, Camptodactyly of finger, Short stature, Cox...	OMIM:231050
Endocrine-Cerebroosteodysplasia	Small scrotum, Adrenal hypoplasia, Micromelia, Preaxial polydactyly, Tibial bowing, Sex reversal,...	OMIM:612651
Ciliary Dyskinesia, Primary, 26	Absent outer dynein arms, Bronchiectasis, Rhinitis, Infertility, Recurrent sinusitis, Recurrent o...	OMIM:615500
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Abnormal circulating...	ORPHA:314478
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Feeding difficulties, Pulmonary a...	OMIM:619051
Hydrolethalus Syndrome 1	Hypospadias, Ventricular septal defect, Micrognathia, Preaxial hand polydactyly, Postaxial hand p...	OMIM:236680
Holocarboxylase Synthetase Deficiency	Alopecia, Hyperammonemia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hyd...	OMIM:253270
Fanconi Anemia, Complementation Group I	Short stature, Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, ...	OMIM:609053
Mucopolysaccharidosis Type 4	Bowing of the long bones, Short stature, Abnormal heart valve morphology, Coxa valga, Genu valgum...	ORPHA:582
Porphyria, Acute Intermittent	Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Elevated urinary del...	OMIM:176000
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atria...	OMIM:618652
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Narrow face, Fail...	ORPHA:1225
Ichthyosis, Congenital, Autosomal Recessive 10	Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma	OMIM:615024
3Mc Syndrome	Highly arched eyebrow, Supernumerary nipple, Bilateral cryptorchidism, Craniosynostosis, Abnormal...	ORPHA:293843
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Renal insufficiency, Epistaxis, Conges...	ORPHA:727
Duodenal Ulcer, Hyperpepsinogenemic I	Hyperpepsinogenemia I, Duodenal ulcer	OMIM:126850
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type	Coarse facial features, Prominent nose, Bulbous nose, Thick nasal alae, Triangular face	ORPHA:293707
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress...	ORPHA:93258
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Anemia, Gastrointestinal inflammation	ORPHA:79410
Mucopolysaccharidosis Type 3	Cardiomegaly, Synophrys, Flexion contracture, Atrioventricular block, Reduced bone mineral densit...	ORPHA:581
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Ste...	OMIM:269200
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Short stature, Metaphyseal chondrodysplasia, Abnormality of the calcaneus...	ORPHA:163966
Silver-Russell Syndrome 4	Birth length less than 3rd percentile, Small for gestational age, Triangular face, Decreased body...	OMIM:618907
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Hypoplastic toenails, Long nose, High palate, Clinodactyly of the 5th finger, Hypospadias, Anteve...	OMIM:619522
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Primrose Syndrome	Bilateral cryptorchidism, Synophrys, Flexion contracture, Reduced bone mineral density, Knee flex...	OMIM:259050
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Raynaud phenomenon, Mediastinal lymphadenopathy, Bronchiectasis,...	ORPHA:79128
Mandibulofacial Dysostosis With Alopecia	Alopecia, Hydroureter, Bicuspid aortic valve, Sparse eyelashes, Micrognathia	OMIM:616367
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Abetalipoproteinemia	Elevated hepatic transaminase, Reticulocytosis, Hepatomegaly, Acanthocytosis, Cardiomegaly, Conge...	ORPHA:14
Intellectual Disability, Buenos-Aires Type	Abnormal fingernail morphology, Short stature, Hyperconvex thumb nails, Fine hair, Reduced bone m...	ORPHA:3079
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Decreased proportion of CD4-positive helper T cells, Abnormal T cell subset distribut...	ORPHA:221139
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Gastroesophageal reflux, Shawl scrotum	ORPHA:85277
Shwachman-Diamond Syndrome	Osteopenia, Sinusitis, Decreased response to growth hormone stimulation test, Metaphyseal chondro...	ORPHA:811
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Sandal gap, Depressed nasal bridge, Tapered finger, Bulbous nose, Obesity, Constipation, Clinodac...	OMIM:618430
Vici Syndrome	Decreased circulating IgG level, Hypopigmentation of hair, Wide nose, Depressed nasal bridge, Ele...	OMIM:242840
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit...	OMIM:614874
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Overlapping fingers, Abnormal natural killer cell morpholog...	OMIM:615966
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Mild postnatal growth retardation, Abnormal metata...	ORPHA:85408
Congenital Myopathy 12	Akinesia	OMIM:612540
Perry Syndrome	Hypotension, Weight loss	ORPHA:178509
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Thin eyebrow, Abnormally low T cell receptor excision circle level	OMIM:618092
Silver-Russell Syndrome 5	Birth length less than 3rd percentile, Intrauterine growth retardation, Small for gestational age...	OMIM:618908
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Reduced bone mineral density, Ureterocele, Vesicoureteral reflux...	ORPHA:2911
Biotinidase Deficiency	Lethargy, Alopecia, Ataxia	OMIM:253260
Carey-Fineman-Ziter Syndrome	Short stature, Micrognathia, Glandular hypospadias, Ulnar deviation of finger, Growth delay, Tali...	ORPHA:1358
Three M Syndrome 2	Prominent nasal tip, Severe short stature, Small for gestational age, Anteverted nares, Depressed...	OMIM:612921
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Postaxial hand polydactyly, Short stature, Cachexia	ORPHA:1389
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93259
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Pyelonephritis, Oligozoospermia, Nephritis, Facial asymmetry	OMIM:314300
Staphylococcal Necrotizing Pneumonia	Shock, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Addictive alcoho...	ORPHA:36238
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Immunodeficiency 9	Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Failure to...	OMIM:612782
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnor...	ORPHA:2538
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Decreased proportion of naive T cells, Abnormal immunoglobulin level, Increased circ...	ORPHA:276
White-Kernohan Syndrome	Joint laxity, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Synophrys, Bro...	OMIM:619426
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ...	ORPHA:485
Glycogen Storage Disease Due To Acid Maltase Deficiency	Abnormal circulating enzyme concentration or activity, Hepatomegaly, Transient ischemic attack, E...	ORPHA:365
Lichen Planopilaris	Alopecia, Onycholysis, Abnormal fingernail morphology	ORPHA:525
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Alopecia, Fatigable weakness, Hypoplastic fingernail	ORPHA:257
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Increased bone mineral density, Bowing of the long bones, Rhizomelia, Aplastic ...	ORPHA:50945
Acute Interstitial Pneumonia	Pericardial effusion, Hypertension, Elevated circulating creatinine concentration, Elevated circu...	ORPHA:79126
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Depressed nasal bridge, Joint stiffness, Sparse eyebrow, Hand cle...	OMIM:617988
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Fg Syndrome 5	Anteverted nares, Hypospadias, Depressed nasal bridge, Chronic constipation, Short nose	OMIM:300581
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Severe short stature, Rhizomelia, Depressed nasal bridge, Bowel incontinence, Wide anterior fonta...	OMIM:616482
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Marshall Syndrome	Radial bowing, Anteverted nares, Depressed nasal bridge, Short stature, Coxa valga, Hypoplastic i...	OMIM:154780
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Fetal Akinesia Deformation Sequence	Akinesia	ORPHA:994
Ciliary Dyskinesia, Primary, 11	Short stature, Bronchiectasis, Abnormal central microtubular pair morphology of respiratory motil...	OMIM:612649
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Proportionate short stature, Precocious puberty, Moderate albuminuria, Short toe, Obe...	OMIM:619269
Distal 17P13.1 Microdeletion Syndrome	Arachnodactyly, Unilateral polymicrogyria, Prominent nasal bridge, Limited elbow movement, Abnorm...	ORPHA:319171
Renpenning Syndrome 1	Long face, Narrow face, Brittle hair, Hypospadias, Triangular face, Short stature, Phimosis, Bulb...	OMIM:309500
Microform Holoprosencephaly	Narrow nasal bridge, Hypoplasia of penis, Anteverted nares, Choanal atresia, Maternal diabetes, M...	ORPHA:280200
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormal fingernail morphology, Abnorma...	ORPHA:2036
Gapo Syndrome	Hepatomegaly, Alopecia, Sparse eyelashes, Micrognathia, Sparse eyebrow, Wide anterior fontanel, G...	OMIM:230740
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Flexion contracture, Growth delay, Nail dystrophy, Nail dysplasia, Anemia	OMIM:226600
Osteopathia Striata With Cranial Sclerosis	Osteopathia striata, Craniofacial osteosclerosis, High palate, Gastroesophageal reflux, Clinodact...	OMIM:300373
Extracranial Carotid Artery Aneurysm	Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteriti...	ORPHA:494424
Sotos Syndrome	Narrow face, Flexion contracture, Gastroesophageal reflux, Chronic otitis media, Hypothyroidism, ...	ORPHA:821
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short...	OMIM:305600
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Renal hypoplasia/a...	ORPHA:958
Harel-Yoon Syndrome	Hip dysplasia, Short nose, Long face	OMIM:617183
Ulbright-Hodes Syndrome	Maternal diabetes, High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Abnormal...	ORPHA:3404
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Hip dislocation, Polycystic kidney dysplasia, Abnormal facial shape, Fail...	OMIM:608776
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p...	ORPHA:449395
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cor pulmonale, Melena, Hematuria, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse h...	OMIM:158310
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Broad nasal tip, Wide nasal bridge, Cleft palate, Shortening of all distal phalanges of the finge...	OMIM:615716
Fragile X-Associated Tremor/Ataxia Syndrome	Dysphagia, Pollakisuria, Hypertension, Hypotension, Compulsive behaviors, Urinary bladder sphinct...	ORPHA:93256
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Hyper...	OMIM:613159
17Q24.2 Microdeletion Syndrome	Triangular face, Failure to thrive in infancy, Decreased response to growth hormone stimulation t...	ORPHA:529962
Birt-Hogg-Dubé Syndrome	Parathyroid adenoma, Renal cell carcinoma, Medullary thyroid carcinoma	ORPHA:122
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Recurrent skin infections, Craniosynostosis, Decreased circulating antibody level, Grow...	ORPHA:79396
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Abnormality of hair texture, Hypophosphaturia, Synophrys, Hypoplastic s...	ORPHA:73223
Kinsship Syndrome	Osteopenia, Pes planus, Short stature, Micrognathia, Coxa valga, Synophrys, Hip dislocation, Hype...	OMIM:619297
Multiple Osteochondromas	Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn...	ORPHA:321
Marbach-Rustad Progeroid Syndrome	Triangular face, Femur fracture, Short stature, Reduced bone mineral density, Growth delay, Short...	OMIM:619322
Eosinophilic Fasciitis	Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis	ORPHA:3165
Multiple Pterygium Syndrome, Lethal Type	Akinesia	OMIM:253290
Waardenburg Syndrome	Abnormality of the gastrointestinal tract, Abnormal eyebrow morphology, Hypopigmentation of hair,...	ORPHA:3440
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia...	OMIM:619708
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Anteverted nares, Aganglionic megacolon, Epispadias, Grow...	ORPHA:3339
17P11.2 Microduplication Syndrome	Short stature, Oral-pharyngeal dysphagia, Gastroesophageal reflux, Failure to thrive, Triangular ...	ORPHA:1713
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Syndactyly, Hirsutism, Sparse hair, Clinodactyly, Short nose	OMIM:618087
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Duodenal atresia	ORPHA:3004
Congenital Disorder Of Glycosylation, Type Iie	Wide nose, Short stature, Elevated circulating creatine kinase concentration, Protruding tongue, ...	OMIM:608779
Spastic Paraplegia 84, Autosomal Recessive	Crohn's disease	OMIM:619621
Mulchandani-Bhoj-Conlin Syndrome	Severe short stature, 2-3 toe syndactyly, Intrauterine growth retardation, Clinodactyly, Failure ...	OMIM:617352
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Abdominal pain, Thrombocytopenia,...	ORPHA:520
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Limited hip extension, Ventricular septal defect, Flexion contracture, Retinal hemor...	OMIM:614653
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma	OMIM:133200
Neurofibromatosis, Type I	Short stature, Tibial pseudarthrosis, Genu valgum, Hypertension, Pheochromocytoma, Renal artery s...	OMIM:162200
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	ORPHA:158048
Esophageal Atresia	Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Maternal diabetes, Small fo...	ORPHA:1199
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Hallux valgus, Narrow nasal bridge, Joint laxity, Anterior pituitary hypoplasia, Supernumerary ni...	ORPHA:466791
Copper Deficiency, Familial Benign	Curly hair, Decreased circulating copper concentration, Seborrheic dermatitis, Early balding, Fai...	OMIM:121270
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ...	ORPHA:64739
Kindler Epidermolysis Bullosa	Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ...	ORPHA:2908
Intellectual Developmental Disorder With Neuropsychiatric Features	Depressed nasal bridge, Triangular face, Highly arched eyebrow	OMIM:617532
Restrictive Dermopathy	Osteopenia, Aplasia/Hypoplasia involving the nose, Multiple joint contractures, Hypospadias, Shor...	ORPHA:1662
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Postnatal growth retardation, Hip dislocation, Talipes equinovarus, Int...	OMIM:616603
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Failure to thrive	OMIM:229600
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Intellectual Developmental Disorder, X-Linked 98	Round face, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Underdeveloped nasa...	OMIM:300912
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Floating-Harbor Syndrome	Long nose, Renal cyst, Humeral pseudarthrosis, Gastroesophageal reflux, Dislocated radial head, S...	ORPHA:2044
Cutis Laxa, Autosomal Recessive, Type Iic	Joint laxity, Overlapping toe, Anteverted nares, Short stature, Broad nasal tip, Bilateral crypto...	OMIM:617402
Hypotonia, Ataxia, And Delayed Development Syndrome	Anteverted nares, Prominent nasal bridge, Short stature, Tapered finger, Broad nasal tip, Cryptor...	OMIM:617330
Leopard Syndrome 1	Triangular face, Hypospadias, Short stature, Limited elbow movement, Cryptorchidism, Depressed na...	OMIM:151100
Fibrochondrogenesis 2	Anteverted nares, Hypoplastic ilia, Metaphyseal widening, Short nose, Hypoplastic pubic bone, Sho...	OMIM:614524
Ciliary Dyskinesia, Primary, 15	Nasal polyposis, Recurrent pneumonia, Abnormal axonemal organization of respiratory motile cilia,...	OMIM:613808
Huntington Disease-Like 2	Weight loss	OMIM:606438
Erythrocytosis, Familial, 1	Splenomegaly, Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Nausea, Insulin-dependent but ketosis-resistant dia...	ORPHA:103918
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia	OMIM:225790
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Brachydactyly, Generalized hyperkeratosis, Shor...	ORPHA:201
Pemphigus Foliaceus	Psoriasiform dermatitis, Autoimmunity, Acantholysis, Pruritus, Pustule, Crusting erythematous der...	ORPHA:79481
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Wide anterior fontanel, Stage 5 chronic kidney disease, Hypertension...	OMIM:194080
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si...	ORPHA:2299
Distal 22Q11.2 Microduplication Syndrome	Coarse facial features, Toe syndactyly, Wide nose, Camptodactyly of finger, Tapered finger, Hypop...	ORPHA:261337
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint laxity, Arachnodactyly, Recurrent skin infections, Facial asymmetry, Hiatus hernia, Intesti...	OMIM:601776
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Idiopathic Bronchiectasis	Acute infectious pneumonia, Cachexia, Bronchiectasis, Myocardial infarction	ORPHA:60033
Charge Syndrome	Bifid scrotum, Narrow face, Abnormal tibia morphology, Gastroesophageal reflux, Abnormality of bo...	ORPHA:138
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, Hypoplasi...	OMIM:617022
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility, Bronchiectasis, Nasal congestion, Recurrent sinusitis, Chronic otitis media	OMIM:300991
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Narrow greater sciatic notch, Short palm, Hepatoblastoma, Exaggerated median tongue f...	OMIM:312870
Beare-Stevenson Cutis Gyrata Syndrome	Overlapping toe, Hypospadias, Craniosynostosis, Hypertension, Small nail, Palmoplantar cutis laxa...	OMIM:123790
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Underdeveloped n...	ORPHA:894
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis,...	ORPHA:3109
19P13.13 Microdeletion Syndrome	Sandal gap, Anteverted nares, Depressed nasal bridge, Long fingers, Diarrhea, Functional abnormal...	ORPHA:357001
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypospadias, Anteverted nares, Highly arched eyebrow, Cleft soft palate, Short stature, Cryptorch...	ORPHA:2282
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra...	OMIM:300106
Acro-Renal-Ocular Syndrome	Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger syndactyly, Broad hall...	ORPHA:959
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en...	ORPHA:95459
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Chronic gastritis, Mild postnatal growth retardation, Prominent nose, Bilateral crypt...	OMIM:150230
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis	OMIM:612281
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Coarse facial features, Depressed nasal bridge, Highly arched eyebrow, Gastroesophageal reflux, T...	OMIM:617865
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Deformed humerus, Abnormalit...	ORPHA:2975
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93260
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, Tapered finger, Obesity, Short nose, Long hallux	OMIM:619854
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus...	ORPHA:555874
Olmsted Syndrome 2	Sparse hair, Woolly hair, Flexion contracture of digit, Alopecia universalis	OMIM:619208
Transaldolase Deficiency	Small for gestational age, Depressed nasal bridge, Wide anterior fontanel, Synophrys, Intrauterin...	OMIM:606003
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Hypogonadotropic hypogonadism, Short stature, Esophageal atresia, Tracheo...	OMIM:301030
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Round face, Bulbous nose, Wide nasal bridge, Gastroesophageal reflux, Mild short stature, Short nose	OMIM:620292
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Antinuclear antibody positivity, Anti-La/SS-B antibody positivity, An...	ORPHA:536
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Decreased proportion of memory B cells...	ORPHA:79124
Burn-Mckeown Syndrome	Short stature, Prominent nasal bridge, Wide nasal bridge, Short nose, Bilateral choanal atresia	ORPHA:1200
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Chorea, Dementia, Dystonia	OMIM:272750
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Arthrogryposis multiplex conge...	ORPHA:86822
Alazami Syndrome	Wide nose, Sparse eyebrow, Postnatal growth retardation, Slender long bone, Triangular face	ORPHA:319671
Adams-Oliver Syndrome 1	Alopecia, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple,...	OMIM:100300
5Q14.3 Microdeletion Syndrome	Short nose, Toe syndactyly, Anteverted nares, Thick eyebrow	ORPHA:228384
Gaucher Disease, Perinatal Lethal	Progressive neurologic deterioration, Akinesia, Opisthotonus	OMIM:608013
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Ciliary Dyskinesia, Primary, 22	Nasal polyposis, Bronchiectasis, Absent inner and outer dynein arms, Rhinitis, Infertility, Recur...	OMIM:615444
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Short stature, Broad nasal tip, Postnatal growth retardat...	ORPHA:2834
Hennekam-Beemer Syndrome	Wide nose, Short stature, Camptodactyly of finger, Pneumonia, Mastocytosis, Pruritus, Long nose, ...	ORPHA:2135
Noonan Syndrome With Multiple Lentigines	Hypospadias, Short stature, Cryptorchidism, Decreased fertility, Wide nasal bridge, Growth delay,...	ORPHA:500
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Epistaxis, Anorexia, Malabsorption, Abdominal pain, Weight loss, Car...	ORPHA:79430
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Short stature, Flexion contracture, Osteoporosis, Short nose, Failure to thrive	OMIM:615851
Primary Progressive Freezing Gait	Hypertension, Restless legs, Urinary incontinence, Dysphagia	ORPHA:75567
Gangliocytoma	Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent...	ORPHA:251937
Meckel Syndrome, Type 1	External genital hypoplasia, Adrenal hypoplasia, Ambiguous genitalia, female, Lobulated tongue, A...	OMIM:249000
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def...	ORPHA:137675
Donnai-Barrow Syndrome	Depressed nasal bridge, Intestinal malrotation, Broad nasal tip, Wide anterior fontanel, Bicornua...	OMIM:222448
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Anteverted nares, Depressed nasal bridge, Intest...	ORPHA:2729
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Hepatosplenomegaly, Feeding difficulties, Esoph...	ORPHA:541423
Tetrasomy 18P	Abnormality of neuronal migration, Large hands, Achalasia, Short nose, Facial asymmetry	ORPHA:3307
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Recurrent fractures, Coxa vara, Inc...	OMIM:610968
Stiff-Person Syndrome	Hypertension, Tachycardia, Diabetes mellitus	OMIM:184850
Neurooculorenal Syndrome	Decreased circulating cortisol level, Ectopic posterior pituitary, Micrognathia, Conjugated hyper...	OMIM:620305
Infantile Krabbe Disease	Abnormal circulating enzyme concentration or activity, Cachexia, Nasogastric tube feeding in infa...	ORPHA:206436
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi...	ORPHA:424
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Choanal steno...	ORPHA:1790
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Osteopetrosis	ORPHA:3240
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Erythroderma	OMIM:615022
Hydatidiform Mole	Hyperthyroidism, Menometrorrhagia, Enlarged uterus	ORPHA:99927
Cardiac-Urogenital Syndrome	Bifid scrotum, Unilateral cryptorchidism, Intestinal malrotation, Tracheomalacia, Cryptorchidism,...	OMIM:618280
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Dementia	OMIM:272800
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Hypoplastic fifth toenail, Hypospadias, Proxim...	ORPHA:2438
Leptospirosis	First degree atrioventricular block, Anorexia, Uveitis, Hepatomegaly, Abdominal pain, Hepatitis, ...	ORPHA:509
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Elevated circulating alpha-f...	ORPHA:420741
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Chronic myelogenous leukemia, We...	ORPHA:71493
Peritoneal Cystic Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation	ORPHA:168816
Ciliary Dyskinesia, Primary, 9	Male infertility, Pneumonia, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis, Recurren...	OMIM:612444
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Akinesia	OMIM:619147
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hyperkeratosis, Hypohidrosis, Erythroderma	OMIM:615023
Acromelic Frontonasal Dysplasia	Hypopituitarism, Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Talipes equi...	ORPHA:1827
Frontometaphyseal Dysplasia 2	Bicuspid aortic valve, Feeding difficulties in infancy, Pyloric stenosis, Cryptorchidism, Cleft p...	OMIM:617137
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Celiac disease, Bulbous nose, Synophrys, Constipation, S...	ORPHA:284169
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Brachydactyly, Round face, Prominent nasal bridge, Highly arched eyebrow, Cryp...	ORPHA:1519
Epidermolytic Hyperkeratosis 1	Palmoplantar hyperkeratosis, Erythroderma	OMIM:113800
Pmm2-Cdg	Osteopenia, Multiple joint contractures, Prominent nose, Elevated circulating thyroid-stimulating...	ORPHA:79318
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Analbuminemia	Hypotension, Hypoalbuminemia, Elevated circulating transferrin concentration	OMIM:616000
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Reduced bone mineral density, Shoulder dislocation, Hypotriglyceridem...	ORPHA:404454
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Coarse facial features, Short stature, Limb joint contracture, Tapered finger, Seborrheic dermati...	OMIM:301072
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, High, narrow palate, Synophrys, High palate, Vomiting, Otitis media, Abnormal faci...	OMIM:619475
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Abnormal proportion of CD4-posit...	ORPHA:133
Leprosy	Absent eyebrow, Alopecia, Autoamputation of digits, Epistaxis, Testicular mass, Loss of eyelashes...	ORPHA:548
Lassa Fever	Shock, Jaundice, Oliguria, Dysphagia	ORPHA:99824
Ulnar-Mammary Syndrome	Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas...	OMIM:181450
Legius Syndrome	High, narrow palate, High palate, Triangular face, Low posterior hairline	OMIM:611431
Pterygium Colli, Isolated	Webbed neck, Short nose, Low posterior hairline	OMIM:177990
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Rectal prolapse, Short metatarsal, High palate, Gastroesophageal reflux, Sparse hair, Frontal hir...	OMIM:617157
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Nasal polyposis, Bronchiectasis, Coiled sperm flagella, Recurrent sinusitis, Sh...	OMIM:620197
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Acute Lung Injury	Shock, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage, Increa...	ORPHA:178320
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Intestinal pseudo-obstruction, Gastroparesis, Dilated cardiomyopathy, Mitral valve prolapse, Weig...	OMIM:607459
Distal Deletion 3P	Anteverted nares, Short stature, Cryptorchidism, Postaxial hand polydactyly, Cleft palate, High p...	ORPHA:1620
Chromosome 3Q29 Duplication Syndrome	Round face, Bulbous nose, Obesity, Wide nasal bridge, Low posterior hairline, Short nose, Long face	OMIM:611936
Fowler Urethral Sphincter Dysfunction Syndrome	Acne, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Ameno...	ORPHA:2795
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis, Erythroderma	OMIM:133190
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Synophrys, Clinodactyly, Low anterior hairline, Gastroesophageal reflux, Broad hallux, Anteverted...	OMIM:301044
Cryptogenic Organizing Pneumonia	Neutrophilia, Anorexia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weig...	ORPHA:1302
Diamond-Blackfan Anemia 7	Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Cleft palate, Increa...	OMIM:612562
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Short stature, Prominent nasal bridge, Protruding tongue, Recurrent pneumonia,...	OMIM:619179
X-Linked Creatine Transporter Deficiency	Constipation, Ileus, Aganglionic megacolon, Cachexia	ORPHA:52503
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Anemia,...	OMIM:618838
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Alopecia totalis	OMIM:300918
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Weight loss, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Poliomyelitis	Anorexia, Paralytic ileus, Hypertension, Hypovolemic shock, Vomiting, Hypotension, Dysphagia, Mye...	ORPHA:2912
Peho Syndrome	Short nose, Pachygyria, Polymicrogyria, Tapered finger	OMIM:260565
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension	OMIM:267430
Andersen-Tawil Syndrome	Joint laxity, Short stature, Bulbous nose, Small hand, 2-3 toe syndactyly, Wide nasal bridge, Sho...	ORPHA:37553
Gray Platelet Syndrome	Epistaxis, Abnormality of the menstrual cycle	ORPHA:721
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Reduced bone mineral density, Hip contracture, Ankle flexion contracture, Knee flexion contracture	OMIM:620232
Solitary Fibrous Tumor	Reduced C-peptide level, Weight loss, Neoplasm of the liver, Constipation, Hypoinsulinemia	ORPHA:2126
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Aspiration pneumonia, Dysphagia	ORPHA:216866
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Ost...	OMIM:619718
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru...	OMIM:615607
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Abnormal facial shape, Short stature, Small for gestational age, Short nose	ORPHA:289266
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Small for gestational age, Hypospadias, Highly arched eyebrow, Micrognathia, Bicuspid ...	OMIM:220111
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Depressed nasal bridge, Ankle flexion contracture, Long eyelashes, Dysphagia, Volvulus, Short nose	OMIM:617802
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Thymic Carcinoma	Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss	ORPHA:99868
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Adrenal hypoplasia, Pyloric stenosis, Rectal prolapse, Recurrent pneumonia, Fee...	OMIM:613177
Keutel Syndrome	Calcification of the auricular cartilage, Ventricular septal defect, Short hallux, Premature fusi...	OMIM:245150
Noonan Syndrome 3	Hypoplastic nasal bridge, Anteverted nares, Short stature, Sagittal craniosynostosis, Cryptorchid...	OMIM:609942
Rett Syndrome	Cachexia, Constipation, Gastroesophageal reflux, Abnormal T-wave, Prolonged QTc interval	OMIM:312750
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Elevated urinary cate...	OMIM:115310
Nipah Virus Disease	Nausea and vomiting, Infectious encephalitis, Hypotension, Anorexia	ORPHA:99825
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Pes planus, Transient ischemic attack, Arachnodactyly, Subarachnoid hemorrh...	ORPHA:91387
Mevalonic Aciduria	Skin rash, Failure to thrive in infancy, Elevated circulating creatine kinase concentration, Elev...	OMIM:610377
Distal Deletion 9P	Hypospadias, High, narrow palate, Wide nasal bridge, Cleft palate, Hypoplastic labia majora, Shor...	ORPHA:1642
Cutis Laxa, Autosomal Recessive, Type Iid	Bilateral cryptorchidism, Bulbous nose, Hip dislocation, Wide nasal bridge, Hip dysplasia, Joint ...	OMIM:617403
Stickler Syndrome	Osteoarthritis, Depressed nasal ridge, Uveitis, Reduced bone mineral density, Glossoptosis, Gastr...	ORPHA:828
Dpagt1-Cdg	Ataxia, Akinesia, Tremor, Inability to walk, Emotional blunting, Hypertrichosis	ORPHA:86309
Fetal Alcohol Syndrome	Narrow face, Anteverted nares, Short stature, Joint stiffness, Cleft palate, Intrauterine growth ...	ORPHA:1915
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Craniosynostosis, Palmoplantar cutis gyrata, Cryptorchidism, Hypertension, Palmoplantar keratoder...	ORPHA:1555
Osteogenesis Imperfecta, Type Iv	Short stature, Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fra...	OMIM:166220
Congenital Tracheomalacia	Failure to thrive, Ventricular septal defect, Pneumonia, Cardiomegaly, Esophageal atresia, Partia...	ORPHA:95430
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Yellow Fever	Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Supravent...	ORPHA:99829
Kabuki Syndrome 1	Congenital hip dislocation, Premature thelarche, High palate, Prominent fingertip pads, Micropeni...	OMIM:147920
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Renal cyst, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, Anteve...	OMIM:272460
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Severe short stature, Recurrent fractures, O...	OMIM:231070
Fryns-Smeets-Thiry Syndrome	Arachnodactyly, Short stature, Cachexia, Patellar aplasia, Hip dislocation, Joint hyperflexibility	ORPHA:2058
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Recurrent skin infections, Anal fissure, Glomerulonephritis, Dilated cardiomyopathy, Malnutrition...	ORPHA:79408
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal ...	OMIM:619534
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Gastrointestinal dysmotility, Simplified gyral pattern, Gastroesophageal reflux, Abnormal facial ...	ORPHA:500150
Bullous Pemphigoid	Diabetes mellitus, Eczema, Psoriasiform dermatitis, Weight loss	ORPHA:703
African Trypanosomiasis	Urinary incontinence, Abnormal EKG, Alopecia, Hepatomegaly, Abnormality of the endocrine system, ...	ORPHA:3385
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Anteverted nares, Depressed nasal bridge, Short stature, Wide nasal bridge, Chronic c...	OMIM:616430
15q26 overgrowth syndrome	Long toe, Long face, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, A...	DECIPHER:81
Familial Cerebral Saccular Aneurysm	Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage	ORPHA:231160
Yuan-Harel-Lupski Syndrome	Joint laxity, Wide nose, Sandal gap, Chronic constipation, High palate, Clinodactyly of the 5th f...	OMIM:616652
Trichotillomania	Alopecia	OMIM:613229
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Familial Pseudohyperkalemia	Hypertension, Hyperkalemia	ORPHA:90044
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Tapered toe, Shoulder flexion contracture, Limb joint contracture, Synophrys, Fl...	OMIM:620369
Biotinidase Deficiency	Lethargy, Alopecia, Ataxia	ORPHA:79241
Absent Eyebrows And Eyelashes With Mental Retardation	Absent eyelashes, Absent eyebrow, Short nose, Convex nasal ridge	OMIM:200130
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Synophrys, Triangular face, Hirsutism	OMIM:619264
Hereditary Angioedema Type 1	Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Hypotensio...	ORPHA:100050
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash,...	ORPHA:95455
Plasminogen Deficiency, Type I	Duodenal ulcer, Decreased level of plasminogen, Conjunctivitis, Periodontitis, Nephritis	OMIM:217090
Weiss-Kruszka Syndrome	Anteverted nares, Horizontal crus of helix, Proximal placement of thumb, Highly arched eyebrow, C...	OMIM:618619
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Telangiectasia of the skin, Micr...	ORPHA:1556
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Short nose, Thick nasal alae, Dysphagia	ORPHA:163961
Meningococcal Meningitis	Shock, Projectile vomiting, Skin rash, Elevated circulating C-reactive protein concentration, Ano...	ORPHA:33475
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Brittle hair, Sparse hair, Absent eyebrow, Depressed nasal bridge, Concave nail, Absent eyelashes...	OMIM:305100
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Anorexia, Hypertension, Pheochromocytoma, Adrenocortica...	ORPHA:139411
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Familial Gestational Hyperthyroidism	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:99819
Ciliary Dyskinesia, Primary, 5	Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent sinusitis, Recu...	OMIM:608647
Ciliary Dyskinesia, Primary, 45	Male infertility, Bronchiectasis, Chronic rhinitis, Absent inner and outer dynein arms	OMIM:618801
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Hypertension, Renal cell carcinoma, Multiple renal cy...	OMIM:193300
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Knee flexion c...	OMIM:600920
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Short stature, Prominent nasal bridge, Broad nasal tip, Postnatal growth retardation, Oval face, ...	OMIM:300749
Fanconi Anemia, Complementation Group A	Male infertility, Hypergonadotropic hypogonadism, Small for gestational age, Short stature, Absen...	OMIM:227650
Neuropathy, Congenital Hypomyelinating, 3	Gastroesophageal reflux, Cachexia, High palate, Narrow palate	OMIM:618186
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger	OMIM:277450
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79395
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Adrenocorticotropin deficien...	ORPHA:199296
Postorgasmic Illness Syndrome	Hypertension, Palpitations	ORPHA:279947
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Reduced bone mineral density, Coronal craniosynostosis, Orbital ...	OMIM:112240
Pontocerebellar Hypoplasia Type 7	Depressed nasal bridge, Abnormal scrotal rugation, Cryptorchidism, Wide nasal bridge, Gonadal dys...	ORPHA:284339
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Hypothyroidism, 2-...	OMIM:107480
Viss Syndrome	Chronic gastritis, High, narrow palate, Generalized joint laxity, Increased circulating IgG level...	OMIM:619472
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal phalanx of the 5th toe, ...	ORPHA:364577
Huntington Disease-Like 1	Abnormal shoulder morphology, Weight loss	ORPHA:157941
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Erythroderma	OMIM:604777
Isolated Ectopia Lentis	Hypertension, Joint stiffness	ORPHA:1885
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Abnormality of the menstrual cycle, Orchitis, Pr...	ORPHA:556
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Psoriasis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Generalized morning stiffness, Autoimmunity, Antinuclear antibody positivity, ...	ORPHA:85436
Encephalocraniocutaneous Lipomatosis	Alopecia, Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal d...	OMIM:613001
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Short stature, Recurrent fractures, Intraventricular hemorrhage, Hip...	OMIM:616507
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density	OMIM:259900
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Lathosterolosis	Hypoplasia of penis, Toe syndactyly, Anteverted nares, Postaxial hand polydactyly, Bulbous nose, ...	ORPHA:46059
Fatal Familial Insomnia	Weight loss, Constipation, Dysphagia	OMIM:600072
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose	ORPHA:833
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab...	OMIM:194072
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H...	OMIM:263400
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Alopecia, Abnormal eyelash morphology, Abnormal cartilage morphology, ...	ORPHA:2396
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Frontofacionasal Dysplasia	Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Depressed nasal ridge, C...	ORPHA:1791
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand, Depressed nasal bridge, Narrow naris, Short nose, Flat face	OMIM:122880
Beck-Fahrner Syndrome	Feeding difficulties in infancy, Ventricular septal defect, High palate, Cardiomegaly	OMIM:618798
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Micromelia, Renal cyst, Absent or minimally ossified vertebral bodies, Short...	ORPHA:93271
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Joint laxity, Wide nose, Sandal gap, Failure to thrive in infancy, 2-3 toe syndactyly, Chronic co...	ORPHA:477817
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant...	ORPHA:90301
Lymphangiectasia, Pulmonary, Congenital	Mild postnatal growth retardation, Wide nasal bridge, Depressed nasal bridge, Flat face	OMIM:265300
Gaucher Disease Type 3	Increased bone mineral density, Osteolysis, Increased susceptibility to fractures	ORPHA:77261
Chronic Graft Versus Host Disease	Fasciitis, Flexion contracture, Xerostomia, Gastroesophageal reflux, Nausea, Alopecia, Bronchiect...	ORPHA:99921
Weill-Marchesani Syndrome 1	Thin bony cortex, Depressed nasal bridge, Short stature, Proportionate short stature, Joint stiff...	OMIM:277600
Double Outlet Left Ventricle	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor...	ORPHA:3427
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ...	ORPHA:355
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concentration, Dilated cardi...	OMIM:164310
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, Knee flexion contracture, High palate, Sparse hair, Phocomelia, Wrist flexion co...	OMIM:268300
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Anteriorly placed anus, Abnormality of the uterus, Triphalang...	ORPHA:857
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Short stature, Pruritus, Abnormal tongue morphology, Recu...	ORPHA:158668
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Anteverted nares, Depressed nasal bridge, Recurrent pneumonia, Polydactyly, High palate, Aspirati...	ORPHA:314655
Centrifugal Lipodystrophy	Alopecia	ORPHA:90156
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Arthrogryposis Multiplex Congenita 5	Akinesia, Hand tremor, Dystonia	OMIM:618947
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Anteverted nares, Short stature, Underdeveloped nasal alae, Renal c...	ORPHA:2031
Nocardiosis	Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Anorexia, Keratitis, Lym...	ORPHA:31204
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Ventricular hyp...	OMIM:618278
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Pancreatic fibrosis, Craniosynostosis, Micromelia, Postaxial hand polydactyly,...	OMIM:200995
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Overlapping toe, Short stature, Bulbous nose, Wide nasal bridge, Cleft palate, Horizontal eyebrow...	OMIM:618571
Oromandibular Dystonia	Weight loss, Dysphagia	ORPHA:93958
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Weill-Marchesani Syndrome 2	Short metacarpal, Thin bony cortex, Depressed nasal bridge, Short stature, Proportionate short st...	OMIM:608328
Camurati-Engelmann Disease	Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Cachexia, ...	ORPHA:1328
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Coarse facial features, Thick hair, Joint stiffness, Flexion contracture, Increased circulating I...	ORPHA:505248
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly, Cryptorchidism, Low alkaline phosphatase, Feeding difficulties, Macro...	OMIM:618143
Hereditary Hyperekplexia	Gastroesophageal reflux, Esophagitis, Hiatus hernia	ORPHA:3197
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Gastroesophageal reflux, Esophagitis, Feeding difficulties	ORPHA:79350
Adult-Onset Still Disease	Cartilage destruction, Arthritis, Abnormal circulating lipid concentration, Elevated circulating ...	ORPHA:829
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Hip dyspl...	OMIM:166200
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Aganglionic megacolon, Short stature, Broad nasal tip, Hypoplastic fifth fingernai...	OMIM:614207
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Subvalvular aortic stenosis, Expan...	OMIM:182250
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Arachnodactyly, Prominent nasal bridge, Large for gestational age, Sparse eyebrow, ...	ORPHA:457359
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Diarrhea, Cardiomyopathy, Constipation, Episodic vomiting, Orthostatic hypotension ...	OMIM:105210
Hypermobile Ehlers-Danlos Syndrome	Abnormality of the menstrual cycle, Malabsorption, Osteoarthritis, Cystocele, Hip dislocation, Os...	ORPHA:285
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Proximal placement of thumb, Short stature, Preaxial hand poly...	OMIM:610536
Ciliary Dyskinesia With Defective Radial Spokes	Nasal polyposis, Sinusitis, Chronic rhinitis, Immotile sperm, Absent respiratory ciliary axoneme ...	OMIM:242670
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa...	ORPHA:980
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Inhalational Anthrax	Vomiting, Internal hemorrhage, Hypotension, Abnormal sweat gland morphology	ORPHA:247257
Malan Syndrome	Narrow face, Coxa valga, Long fingers, Short nose, Long face	OMIM:614753
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, High palate, Dysphagia, Short nose	OMIM:614744
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ...	ORPHA:221
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Camptodactyly of finger, Splenomegaly, Nephropathy...	ORPHA:90340
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, T lympho...	OMIM:600802
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Retinal hemorrhage, Stage 5 chronic kidney disease, Hyp...	OMIM:609049
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Failure to thrive, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:619693
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Large for gestational...	ORPHA:500095
Khan-Khan-Katsanis Syndrome	Short stature, Trichiasis, Postaxial polydactyly, Highly arched eyebrow, Renal cyst, Joint contra...	OMIM:618460
Acute Transverse Myelitis	Orthostatic hypotension, Decreased circulating copper concentration, Urinary incontinence, Subara...	ORPHA:139417
Tibial Hemimelia	Absent tibia	OMIM:275220
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Enlarged...	ORPHA:79078
Fraser Syndrome 2	Intestinal malrotation, Abdominal distention, Rectal atresia, Hypoplasia of the thymus, Anal atresia	OMIM:617666
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Interstitial pneumonitis, Vomitin...	ORPHA:454831
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Cachexia, Abnormality...	ORPHA:2072
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Coarse facial features, Anteverted nares, Short stature, Broad femoral nec...	OMIM:619727
Matthew-Wood Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormality of the uterus,...	ORPHA:2470
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Absent external genitalia, Aplasia of the vagina, Aplasia of t...	OMIM:271520
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Abdominal pain, Weight loss, Syncope, Nausea, Anemia	ORPHA:71273
Halperin-Birk Syndrome	Flexion contracture, Hip dislocation, Pseudobulbar paralysis, Long eyelashes, Talipes equinovarus...	OMIM:618651
Joubert Syndrome 27	Polydactyly, Triangular face	OMIM:617120
Pelizaeus-Merzbacher Disease	Short stature, Failure to thrive in infancy, Cachexia, Joint stiffness	ORPHA:702
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Localized pu...	OMIM:608710
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Prominent nasal bridge, Convex nasal ridge, Genu varum, Abnormal hip bone morphology, Intrauterin...	ORPHA:1110
Tolchin-Le Caignec Syndrome	Arachnodactyly, Prominent nose, Precocious puberty, Submucous cleft hard palate, Hirsutism, Wide ...	OMIM:618971
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Abnormal location of the eyebrow, Progressive flexion contractures, Equinus calcane...	ORPHA:522077
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Mowat-Wilson Syndrome	Bifid scrotum, Cleft hard palate, Gastrointestinal dysmotility, Calcaneovalgus deformity, Flexion...	ORPHA:2152
Faciocardiomelic Syndrome	Osteopenia, Anteverted nares, Depressed nasal bridge, Large for gestational age, Slender long bon...	OMIM:612731
Diffuse Alveolar Hemorrhage	Leukocytosis, Weight loss, Anemia, Pulmonary venous hypertension, Thrombocytopenia	ORPHA:90060
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Bradycardia, Hypotension	ORPHA:70587
Mandibulofacial Dysostosis-Microcephaly Syndrome	Preaxial hand polydactyly, Short nose, Short stature, Cleft palate	ORPHA:79113
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615356
Acrofacial Dysostosis, Cincinnati Type	Short stature, Micrognathia, Femoral bowing, Flared lower limb metaphysis, Decreased body weight,...	OMIM:616462
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Abnormality of the uterus	OMIM:617805
Liposarcoma	Nausea and vomiting, Abdominal pain, Weight loss	ORPHA:69078
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Increased circulating lactate dehydrogenase concentra...	ORPHA:747
Blau Syndrome	Pericarditis, Camptodactyly of finger, Synovitis, Hypertension, Arthritis, Flexion contracture of...	OMIM:186580
Peho Syndrome	Anteverted nares, Tapered finger, Flexion contracture, Limitation of joint mobility, Arthrogrypos...	ORPHA:2836
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Leukocytosis, Weight loss,...	ORPHA:764
Melanocytic Nevus Syndrome, Congenital	Round face, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose	OMIM:137550
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Herpes Simplex Virus Encephalitis	Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration	ORPHA:1930
Moderate Hemophilia A	Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joint hemorrhage	ORPHA:169805
Mevalonic Aciduria	Short stature, Triangular face	ORPHA:29
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Ciliary Dyskinesia, Primary, 19	Male infertility, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein arms, Rhinitis, ...	OMIM:614935
Malt Lymphoma	Nausea and vomiting, Abdominal pain, Abnormality of the thyroid gland, Mediastinal lymphadenopath...	ORPHA:52417
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Nasal congestion, Bronchiectasis, Reduced sperm motility	OMIM:615434
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Pes planus, Small for gestational age, Short stature, Bicuspid aortic valve, Aggressive...	OMIM:613355
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Prominent nose, Synophrys, High palate, Clinodactyly of the 5th finger, Prominent fingertip pads,...	OMIM:612474
Monosomy 9Q22.3	Ovarian fibroma, Large for gestational age, Joint hyperflexibility, Polydactyly, Short nose	ORPHA:77301
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Intestinal malrotation, ...	ORPHA:2241
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Atrial septal defect, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, S...	OMIM:300967
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Diabetes mellitus, Chilblains, Neonatal alloimmune throm...	ORPHA:51
Agammaglobulinemia, X-Linked	Agammaglobulinemia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE...	OMIM:300755
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Megaloblastic anemia, Feeding difficulties, Hypogonadism, Gastroesophageal reflux, Esophagitis, V...	ORPHA:79351
Marchiafava-Bignami Disease	Addictive alcohol use, Urinary incontinence, Aggressive behavior	ORPHA:221074
Neu-Laxova Syndrome 1	Finger syndactyly, Wide nose, Toe syndactyly, Rocker bottom foot, Micromelia, Bifid uterus, Absen...	OMIM:256520
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Weight loss	OMIM:605543
Ehlers-Danlos Syndrome, Vascular Type	Short stature, Narrow nasal ridge, Cryptorchidism, Cystocele, Foot acroosteolysis, Cervical insuf...	OMIM:130050
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Myocarditis, Metaphyseal chondrodysplasia, Disproportion...	ORPHA:93317
Erythroderma Desquamativum	Diarrhea, Failure to thrive, Seborrheic dermatitis	ORPHA:314
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic...	ORPHA:79644
Developmental And Epileptic Encephalopathy 75	Short nose, Anteverted nares, Wide nasal bridge	OMIM:618437
Dend Syndrome	Anteverted nares, Elevated hemoglobin A1c, Autoimmune antibody positivity, Vomiting, Clinodactyly...	ORPHA:79134
Tracheobronchopathia Osteochondroplastica	Recurrent pneumonia, Pneumonia, Esophagitis	ORPHA:3348
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Congenital Fiber-Type Disproportion Myopathy	Poor appetite, Nasogastric tube feeding in infancy, Cor pulmonale, Abnormal heart morphology, Wei...	ORPHA:2020
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Clubbing, Weight loss	ORPHA:79127
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Reduced progressive sperm motility, Chronic otitis media, Chronic sinusit...	OMIM:619608
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sandal gap, Dysgammaglobulinemia, Short stature, 2-3 toe syndactyly,...	OMIM:251260
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Postnatal growth retardation, Hip dislocation, Bronchiectasis, Pyelonep...	ORPHA:90348
Congenital Disorder Of Glycosylation, Type Iim	Vesicovaginal fistula, Hypertension, Atrial septal defect, Intrauterine growth retardation, Urete...	OMIM:300896
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac...	OMIM:119600
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Short stature, Perianal...	ORPHA:2968
9q subtelomeric deletion syndrome	Synophrys, Anteverted nares, Short nose, Protruding tongue	DECIPHER:52
Pancreatic And Cerebellar Agenesis	Failure to thrive, Diabetes mellitus, Convex nasal ridge, Joint stiffness, Flexion contracture, S...	OMIM:609069
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly...	OMIM:165590
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Hypovolemia, Abnormal heart morp...	ORPHA:99885
Congenital Myopathy 17	Overlapping toe, Failure to thrive in infancy, Tapered finger, Cleft palate, Distal arthrogryposi...	OMIM:618975
Choreoacanthocytosis	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	ORPHA:2388
Diamond-Blackfan Anemia 8	Growth delay, Short nose, Short stature, Wide nasal bridge	OMIM:612563
Candidiasis, Familial, 8	Seborrheic dermatitis, Cheilitis, Macroglossia, Chronic oral candidiasis, Blepharitis	OMIM:615527
Ameloonychohypohidrotic Syndrome	Hypohidrosis, Onycholysis, Seborrheic dermatitis	OMIM:104570
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Esophageal atresia, Broad thumb, Triangular face, Brachydactyly	OMIM:614526
Mullegama-Klein-Martinez Syndrome	Depressed nasal bridge, Short stature, Curly eyelashes, Prominent nose, Bulbous nose, Low anterio...	OMIM:301022
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Decreased level of plasminogen, Periodontitis, Abnormality of the ovary	ORPHA:722
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Bulbous nose, Growth delay, Macroglossia, Gastroesophageal reflux, Short ...	ORPHA:261144
Cerebrofaciothoracic Dysplasia	Wide nose, Short stature, Abnormal hair pattern, Synophrys, Cleft palate, Low posterior hairline,...	ORPHA:1394
Feingold Syndrome 1	Anteverted nares, Jejunal atresia, Short thumb, Short toe, 4-5 toe syndactyly, Esophageal atresia...	OMIM:164280
Boomerang Dysplasia	Severe short stature, Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic na...	OMIM:112310
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Abnormality of the menstrual cycle	ORPHA:90308
Pemphigus Vulgaris	Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Epidermodysplasia Verruciformis	Pustule, Recurrent skin infections, Seborrheic dermatitis	ORPHA:302
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thyroid hypoplasia, Absent nipple, Aplasia of the thymus, Patent foramen ovale, Congenital hypoth...	OMIM:620186
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Anorexia, Cachexia, Abnormality of the thyroid gland, Abnormal mitral valve morphology, Short har...	ORPHA:1969
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Vater/Vacterl Association	Ectopic kidney, Preaxial polydactyly, Triphalangeal thumb, Patent urachus, Vesicoureteral reflux,...	OMIM:192350
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Short stature, Triangular face, Brachydactyly	ORPHA:3218
Bohring-Opitz Syndrome	Cardiomegaly, Feeding difficulties in infancy, Cleft palate, Abnormal cardiac septum morphology, ...	ORPHA:97297
Oeis Complex	Duplicated colon, Congenital hip dislocation, Intestinal malrotation, Bifid uterus, Epispadias, C...	OMIM:258040
Fucosidosis	Hepatomegaly, Failure to thrive, Hypothyroidism, Cardiomegaly	ORPHA:349
Penile Agenesis	Depressed nasal bridge, Maternal diabetes, Rectal fistula, Cryptorchidism, Anorectal anomaly, Tra...	ORPHA:49
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility, Recurrent otitis media	OMIM:618948
Treacher-Collins Syndrome	Cryptorchidism, Tracheoesophageal fistula, Cleft palate, Glossoptosis, Abnormality of the adrenal...	ORPHA:861
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur, Bacterial endocarditis	ORPHA:1054
Chromosome Xq26.3 Duplication Syndrome	Coarse facial features, Elevated circulating growth hormone concentration, Pituitary adenoma, Hyp...	OMIM:300942
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Esophageal stenosis, Prominent nose, Hypohidrosis, Hyperkeratosis, Adrenal insufficiency, Dysphag...	OMIM:615510
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Mitral valve calcification, Right ventricular failure, Increased pulmonary vascular...	ORPHA:60025
Hydroxykynureninuria	Stomatitis, Tachycardia, Hypotension	ORPHA:79155
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Juvenile Amyotrophic Lateral Sclerosis	Gastrostomy tube feeding in infancy, Cachexia, Dysphagia	ORPHA:300605
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Macroglossia, Failure to thrive	OMIM:230000
Peroxisome Biogenesis Disorder 13A (Zellweger)	Depressed nasal bridge, Conjugated hyperbilirubinemia, Wide nasal bridge, Gray matter heterotopia...	OMIM:614887
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
Atelis Syndrome 2	Prominent nose, Bulbous nose, Elevated circulating thyroid-stimulating hormone concentration, Hyp...	OMIM:620185
Interstitial Cystitis	Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Urinary bladder infla...	ORPHA:37202
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Failure to thrive, Depressed nasal bridge, Short stature, Overweight, High, narrow palate, Hemato...	OMIM:619575
Complement Component 5 Deficiency	Intractable diarrhea, Generalized seborrheic dermatitis	OMIM:609536
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Malabsorption, 2-3 toe syndactyly, Failure to thrive, Triangular face, E...	OMIM:616539
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Arachnodactyly, Prominent nasal bridge, Large for gestational age, Sparse eyebrow, ...	OMIM:617011
Paganini-Miozzo Syndrome	Hyperalaninemia, Triangular face	OMIM:301025
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short stature, Depressed nasal bridge, Hypoplastic toenails, Nail dysplasia, Short nose	ORPHA:2835
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Short stature, Long nose, Abnormal facial shape, Triangular face, Long face	ORPHA:85329
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas...	OMIM:600376
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Coarse facial features, Short stature, Decreased response to growth hormone stimulation test, Ren...	OMIM:617260
Pitt-Hopkins Syndrome	Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Feeding difficulties,...	ORPHA:2896
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Wolfram Syndrome 2	Diabetes mellitus, Gastric ulcer, Decreased circulating antibody level	OMIM:604928
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Congestive heart failure, Cardiomegaly	OMIM:619259
Nijmegen Breakage Syndrome	Hemolytic anemia, Anal stenosis, Autoimmune hemolytic anemia, Cachexia, Thrombocytopenia, Anorect...	ORPHA:647
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Long eyelashes, Thick eyebrow	OMIM:617281
Geleophysic Dysplasia 2	Short stature, Joint stiffness, Limitation of joint mobility, Cone-shaped epiphysis, Short foot, ...	OMIM:614185
Alagille Syndrome 1	Hypoplasia of the ulna, Hypertriglyceridemia, Triangular face, Depressed nasal bridge, Long nose,...	OMIM:118450
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Hirsutism, Dystonia	ORPHA:79255
Multisystemic Smooth Muscle Dysfunction Syndrome	Atrial septal defect, Hypertension, Pulmonary arterial hypertension, Cryptorchidism	OMIM:613834
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Long eyelashes	OMIM:617301
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Hyperlipidemia, Renal steatosis, He...	ORPHA:391665
Brain Malformations With Or Without Urinary Tract Defects	Short nose, Failure to thrive, Anteverted nares, Broad face	OMIM:613735
Acute Liver Failure	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Shock, Skin rash, Jaundice, Diarrhea,...	ORPHA:90062
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Brittle hair, Narrow face, Short stature, Growth delay, Macroglossia, Nail dystrophy, T...	ORPHA:93947
Letterer-Siwe Disease	Stomatitis, Seborrheic dermatitis	OMIM:246400
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Arachnodactyly	ORPHA:1129
Asparagine Synthetase Deficiency	Tremor, Irritability, Exaggerated startle response	OMIM:615574
Ciliary Dyskinesia, Primary, 1	Male infertility, Nasal polyposis, Pneumonia, Absent outer dynein arms, Anosmia, Bronchiectasis, ...	OMIM:244400
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Cadds	Cholangitis, Adrenal hypoplasia, Increased circulating very long-chain fatty acid concentration, ...	ORPHA:369942
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Ulnar deviation of the hand, Anteverted nares, Depressed nasal bridg...	OMIM:616503
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Feta...	OMIM:619351
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ectopic anus,...	ORPHA:83628
Pagod Syndrome	Multicystic kidney dysplasia, Short stature, Agonadism, Abnormality of neuronal migration, Abnorm...	ORPHA:991
Behcet Syndrome	Raynaud phenomenon, Arthritis, Patchy alopecia, Decreased level of D-mannose in urine	OMIM:109650
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Short stature, Recurrent fractures, Ventricular septal defect, Metaphyseal widening, ...	OMIM:259770
Secondary Non-Traumatic Avascular Necrosis	Limitation of joint mobility, Addictive alcohol use, Rheumatoid arthritis	ORPHA:399180
Linear Nevus Sebaceus Syndrome	Growth delay, Alopecia, Adenoma sebaceum, Genu recurvatum	ORPHA:2612
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-...	ORPHA:91500
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Neonatal insulin-dependent diabetes mellitus, Triangular face, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Adenylosuccinase Deficiency	Growth delay, Short nose, Anteverted nares	OMIM:103050
Neurodegeneration With Brain Iron Accumulation 2A	Short nose	OMIM:256600
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c...	OMIM:160980
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Adrenocortical carcinoma, Cryptorchidism, ...	OMIM:130650
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormality of cytokine secretion, A...	ORPHA:567983
3Q27.3 Microdeletion Syndrome	Slender nose, Convex nasal ridge, Arachnodactyly, Triangular face	ORPHA:397695
Eec Syndrome	Decreased response to growth hormone stimulation test, Keratitis, Xerostomia, Cleft palate, Infla...	ORPHA:1896
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ...	ORPHA:65681
Familial Bicuspid Aortic Valve	Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi...	ORPHA:402075
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Glucose intolerance, Impaired glucose tolerance, Elevated circulating creatine kinase concentration	OMIM:610131
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega...	ORPHA:96191
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Molybdenum Cofactor Deficiency, Complementation Group B	Growth delay, Short nose, Hypouricemia, Long face	OMIM:252160
Molybdenum Cofactor Deficiency, Complementation Group A	Growth delay, Short nose, Hypouricemia, Long face	OMIM:252150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
Exstrophy-Epispadias Complex	Bifid scrotum, Abnormality of the gastrointestinal tract, Anal stenosis, Bifid uterus, Epispadias...	ORPHA:322
Marfan Syndrome	Mitral valve calcification, Arthralgia/arthritis, Cachexia, High, narrow palate, Congestive heart...	ORPHA:558
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility, Chronic sinusitis, Recurrent otitis media	OMIM:619607
Loeys-Dietz Syndrome	Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Joint hyperflexibility, High palate, T...	ORPHA:60030
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Pancreatitis, Diarrhea, Vomi...	OMIM:155310
Mednik Syndrome	Jejunal atresia, Diarrhea, Growth delay, Increased circulating very long-chain fatty acid concent...	OMIM:609313
Pituitary Adenoma 2, Growth Hormone-Secreting	Pituitary adenoma, Elevated circulating growth hormone concentration	OMIM:300943
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Broad-based gait, Inability to walk, Dystonia, High anterior hairline	ORPHA:438213
Autosomal Dominant Progressive External Ophthalmoplegia	Glucose intolerance, Diabetes mellitus, Osteoporosis, Elevated circulating creatine kinase concen...	ORPHA:254892
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Cachexia	ORPHA:220295
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Arthritis, Gastric ulcer, Gastric hypertrophy	OMIM:161700
Sympathetic Ophthalmia	Alopecia, Poliosis	ORPHA:79098
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Failure to thrive, Diabetes mellitus, Intestinal malrotation, Colon perforati...	OMIM:600001
1P21.3 Microdeletion Syndrome	Short nose, Obesity, Joint hypermobility, Broad nasal tip	ORPHA:293948
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Absent inner eyelashes, Short ...	OMIM:229400
Peroxisome Biogenesis Disorder 4B	Short nose, Adrenal insufficiency	OMIM:614863
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Microcolon, Intestinal malrotation	OMIM:619431
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Microcolon	OMIM:619362
Goodpasture Syndrome	Weight loss, Glomerulonephritis, Anemia, Pulmonary hemorrhage	OMIM:233450
Meconium Ileus	Chronic diarrhea, Microcolon, Meconium ileus	OMIM:614665
Aniridia 1	Glucose intolerance, Increased proinsulin:insulin ratio	OMIM:106210
Norrie Disease	Diabetes mellitus, Cachexia, Cryptorchidism, Delayed puberty, Failure to thrive	ORPHA:649

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 Vdr

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 Vdr.

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

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Vdr^{tm44836(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Vdr^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Vdr^{em1(IMPC)Hmgu}	Exon Deletion	Mice
Vdr^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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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