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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

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

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

Disease Similarity of
phenotypes
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
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Vitamin D-Dependent Rickets, Type 3
Bowing of the legs, Metaphyseal cupping, Hypophosphatemia, Hypocalcemia, Elevated circulating par... OMIM:619073
Hypophosphatemic Bone Disease
Bowing of the legs, Hypophosphatemia, Osteomalacia, Rickets OMIM:146350
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... OMIM:241520
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Infantile hypercalcemia, Parathyroid adenoma, Elevated circulating parathyroid ... ORPHA:99879
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Osteopenia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insuff... OMIM:613388
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Secondary hyperparathyroidism, Abnormality of the parathyroid gland, Abnormal circulating calcium... ORPHA:140286
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Rhizomelic Chondrodysplasia Punctata, Type 3
Failure to thrive, Disproportionate short-limb short stature, Short femur, Short humerus, Rhizome... OMIM:600121
Parathyroid Carcinoma
Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma OMIM:608266
Hyperparathyroidism 4
Nephrolithiasis, Parathyroid carcinoma, Osteopenia, Primary hyperparathyroidism, Hypercalcemia OMIM:617343
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Short stature, Elevated circ... OMIM:612089
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Pseudohypoparathyroidism, Type Ii
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemia, Hyperphos... OMIM:203330
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Osteomalacia... OMIM:134600
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Hyperparathyroidism, Ne... OMIM:239199
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Osteomalacia, Rickets OMIM:193100
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal... OMIM:307800
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Ethanolaminosis
Cardiomegaly OMIM:227150
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Proteinuria, Renal insufficiency, Hypercalcemia, Glomerulopathy, Hyperparathyroidism ORPHA:2668
Hyperparathyroidism 1
Primary hyperparathyroidism, Hypercalcemia OMIM:145000
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp OMIM:610753
Cerebellar Ataxia And Ectodermal Dysplasia
Ataxia, Sparse hair, Alopecia OMIM:212835
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Hypophosphatemia, Hypocalcemia, Abnormal hip bone morphology, Sho... ORPHA:93160
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Elevated circulating alkaline phosphatase concentration, Elevated circulating parathyroid hormone... OMIM:264700
Autosomal Recessive Kenny-Caffey Syndrome
Growth delay, Cortical thickening of long bone diaphyses, Hypocalcemia, Postnatal growth retardat... ORPHA:93324
Renal Tubular Acidosis Iii
Nephrolithiasis, Hypokalemia, Osteomalacia, Bicarbonate-wasting renal tubular acidosis, Nephrocal... OMIM:267200
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Elevated circulating parathyroid hormone level, Brachydactyly, Hyperphosphatemia, O... OMIM:603233
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphatemia, Hypocalcemic se... OMIM:618883
Vitamin D-Dependent Rickets, Type 2A
Elevated circulating alkaline phosphatase concentration, Elevated circulating parathyroid hormone... OMIM:277440
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Hypercalciuria, Hyperphosphatemia, P... ORPHA:2239
Hypercholanemia, Familial 1
Failure to thrive, Increased serum bile acid concentration, Rickets, Steatorrhea OMIM:607748
Rhizomelic Dysplasia, Ain-Naz Type
Severe short stature, Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral n... OMIM:619598
Renal Tubular Acidosis, Distal, 1
Nephrolithiasis, Hypokalemia, Hypocalcemia, Osteomalacia, Pathologic fracture, Distal renal tubul... OMIM:179800
Hypotrichosis Simplex
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes ORPHA:55654
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Hypocalcemic Vitamin D-Dependent Rickets
Elevated circulating parathyroid hormone level, Femoral bowing, Thin bony cortex, Subperiosteal b... ORPHA:289157
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Elevated circulating alkaline phosphatase concentration, Femoral bowing, Thin bony cortex, Renal ... OMIM:241530
Alopecia Universalis Congenita
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair OMIM:203655
Hypophosphatemic Rickets, X-Linked Recessive
Femoral bowing, Thin bony cortex, Proximal tubulopathy, Renal phosphate wasting, Metaphyseal irre... OMIM:300554
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Craniosynostosis, Micropenis, Osteopenia, ... OMIM:614732
Hypophosphatemic Rickets
Elevated circulating alkaline phosphatase concentration, Elevated circulating parathyroid hormone... ORPHA:437
Dent Disease 1
Femoral bowing, Glycosuria, Thin bony cortex, Proximal tubulopathy, Stage 5 chronic kidney diseas... OMIM:300009
Hypotrichosis 5
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair OMIM:612841
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair OMIM:146550
Pseudohypoparathyroidism Type 2
Hypocalcemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hyperphosphate... ORPHA:94090
Satoyoshi Syndrome
Amenorrhea, Alopecia universalis, Malabsorption, Hypoplasia of the uterus, Alopecia, Short statur... OMIM:600705
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypophosphatemic rickets, Hypop... ORPHA:157215
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Fai... OMIM:600081
Hypocalciuric Hypercalcemia, Familial, Type I
Nephrolithiasis, Pancreatitis, Parathyroid adenoma, Hypocalciuria, Hypercalciuria, Hypercalcemia,... OMIM:145980
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc... OMIM:616963
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Eunuchoid habitus, Cleft palate, Osteopenia, Depressed nasal bridge, Primary amenorrhe... ORPHA:432
Alopecia Areata 1
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits OMIM:104000
Hyperparathyroidism 2 With Jaw Tumors
Hurthle cell thyroid adenoma, Nephrolithiasis, Parathyroid adenoma, Parathyroid carcinoma, Nephro... OMIM:145001
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis, Rickets OMIM:602722
Idiopathic Hypercalciuria
Renal calcium wasting, Osteopenia, Calcium oxalate nephrolithiasis, Osteoporosis, Hypercalciuria ORPHA:2197
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Aminoaciduria, Renal tubular atrophy, Short stature, Hyposthenuria, Glycosuria,... OMIM:308990
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Hypocalcemia OMIM:615361
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Osteopenia, Osteoporosis, Hypercalciu... OMIM:612286
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Elevated circulating parathyroid hormone level, Osteopenia, Metacarpal periosteal thickening, Ach... OMIM:617994
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Osteomalacia, Hyperphosphaturia, Rickets ORPHA:89937
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Elevated ser... ORPHA:556037
Acromesomelic Dysplasia 2A
Disproportionate short-limb short stature, Flexion contracture, Short femur, Hypoplasia of the ra... OMIM:200700
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... ORPHA:97289
Alopecia Universalis
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia ORPHA:701
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Elevated ser... ORPHA:556030
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Disproportionate short-limb short stature, Short femur, Hypoplasia of the radius, Short tibia, Ab... OMIM:601376
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Hypotrichosis 11
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... OMIM:615059
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Increased ci... OMIM:610600
Fanconi-Bickel Syndrome
Failure to thrive, Growth delay, Hypophosphatemia, Renal tubular acidosis, Hepatomegaly, Elevated... ORPHA:2088
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hy... OMIM:601198
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Osteopenia, Primary amenorrh... OMIM:614837
Cystinosis
Renal tubular dysfunction, Failure to thrive, Polydipsia, Hypophosphatemia, Hypokalemia, Aminoaci... ORPHA:213
Tyrosinemia Type 1
Rickets of the lower limbs, Generalized aminoaciduria ORPHA:882
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphate... OMIM:146200
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Hypophosphatemia, Renal, With Intracerebral Calcifications
Short distal phalanx of finger, Renal hypophosphatemia OMIM:241519
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Decreased circulating aldosterone level, Increased circulating renin level, Hy... OMIM:203400
Multiple Epiphyseal Dysplasia With Robin Phenotype
Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomelia, Intrauterine growth retarda... OMIM:601560
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Alopecia totalis ORPHA:1014
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... ORPHA:90796
Osteoporosis
Osteoporosis OMIM:166710
Dent Disease
Renal hypophosphatemia, Hyperuricosuria, Glycosuria, Hematuria, Thin bony cortex, Proteinuria, Pr... ORPHA:1652
Aarskog-Scott Syndrome
Testicular atrophy, Cleft palate, Short nose, Shawl scrotum, Widow's peak, Round face, Bilateral ... OMIM:305400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Bulbous nose, Constipation, Decreased circulating androgen concentration, Elbow ankylosis, Cranio... ORPHA:95699
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair ORPHA:505
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... ORPHA:70482
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Hyperinsulinemia, Hypoplasia of the uterus, Absence of pubertal ... ORPHA:785
Satoyoshi Syndrome
Amenorrhea, Abnormality of femur morphology, Nephrogenic diabetes insipidus, Hypoplasia of the ut... ORPHA:3130
Mccune-Albright Syndrome
Abnormality of femur morphology, Pancreatitis, Abnormal endocrine physiology, Benign gastrointest... ORPHA:562
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia ORPHA:169095
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Congenital hypothyroidism, Hypoalbuminemia, Obesity, Cardiomegaly ORPHA:88643
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Coxa vara, Flat capital femoral epiphysis, Short femur, Short stature, Micrognathia, Wide capital... OMIM:147891
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, Abnormal heart morphology DECIPHER:16
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... ORPHA:2722
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia, Reduced bone mineral density ORPHA:172
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Hand tremor, Truncal ataxia, Memory impairment, Gait disturbance, Tremor, ... ORPHA:98764
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormal vagina morphology, Hypoplasia of the uterus, Thick e... ORPHA:247768
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Decreased response to growth ... ORPHA:94089
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Alopecia, Dysgammaglobulinemia, Growth delay, Anemia ORPHA:100025
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Aminoaciduria, Short stature, Glycosuria, Large for gestational age, Proteinuri... OMIM:616026
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating renin level,... ORPHA:95409
Gitelman Syndrome
Failure to thrive, Hypomagnesemia, Hypokalemia, Polydipsia, Polyuria, Hypocalciuria, Nocturia, Pa... OMIM:263800
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Osteomyelitis, Hypovolemic shock, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:171876
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Apparent Mineralocorticoid Excess
Failure to thrive, Polydipsia, Hypokalemia, Decreased circulating aldosterone level, Intrauterine... ORPHA:320
Bartter Syndrome, Type 1, Antenatal
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Renal juxtaglomerular cell hypertro... OMIM:601678
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Small hand, Congenital hypoparathyroidism, Birth length less than 3... OMIM:244460
Addison Disease
Thymoma, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating ren... ORPHA:85138
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative ... OMIM:619398
Hypocalciuric Hypercalcemia, Familial, Type Iii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... OMIM:600740
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Elevated circulating alkaline phosphatase concentration, Ovarian... ORPHA:249
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos... OMIM:300635
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... ORPHA:2790
Candidiasis, Familial, 1
Abnormality of the endocrine system, Alopecia OMIM:114580
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Short stature, Elevated circulating crea... OMIM:300555
Hyperparathyroidism, Neonatal Severe
Metaphyseal irregularity, Failure to thrive, Hypophosphatemia, Recurrent fractures, Aminoaciduria... OMIM:239200
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Short 1st metacarpal, Primary amenorrhea, Hypoplasia of the ulna,... OMIM:609441
Complete Androgen Insensitivity Syndrome
Blind vagina, Primary amenorrhea, Acne, Bilateral cryptorchidism, Increased antimullerian hormone... ORPHA:99429
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hyp... ORPHA:53
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly hair, Alopecia, Hypergonadotropic hypogonadism, Woolly scalp hair, Decreased testicular size OMIM:601217
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Graves disease, Alopecia, Primary adrenal i... ORPHA:3143
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating renin level, Decreased circulating al... ORPHA:90791
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Failure to thrive, Hypotension, Increased circulating renin... OMIM:177735
Lipodystrophy, Congenital Generalized, Type 3
Hirsutism, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Di... OMIM:612526
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Ulna Metaphyseal Dysplasia Syndrome
Coxa valga, Hypercalcemia OMIM:191420
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... ORPHA:93323
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Primary ameno... OMIM:615300
2P21 Microdeletion Syndrome
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Long eyelashes, Hypogonadism, Growt... ORPHA:163693
Familial Hypoaldosteronism
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Proximal renal... ORPHA:427
Rhizomelic Chondrodysplasia Punctata, Type 1
Severe short stature, Flexion contracture, Cleft palate, Severe failure to thrive, Alopecia, Flar... OMIM:215100
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Ri... OMIM:146300
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Spastic Paraplegia-Nephritis-Deafness Syndrome
Clinodactyly of the 5th finger, Severe short stature, Nephropathy, Proteinuria, Hypertension ORPHA:2820
46,Xx Gonadal Dysgenesis
Streak ovary, Reduced bone mineral density, Osteopenia, Arachnodactyly, Primary amenorrhea, Short... ORPHA:243
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Distal renal tubular acidosis, Isothenuria, Nephrocalcinosis, Rickets OMIM:611590
Mantle Cell Lymphoma
Splenomegaly, Anorexia, Abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy ORPHA:52416
Estrogen Resistance
Hyperinsulinemia, Hypoplasia of the uterus, Osteopenia, Primary amenorrhea, Acne OMIM:615363
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Celiac Disease, Susceptibility To, 1
Infertility, Failure to thrive, Hypocalcemia, Decreased circulating IgA level, Steatorrhea, Alope... OMIM:212750
Multiple Endocrine Neoplasia Type 2
Medullary thyroid carcinoma, Elevated circulating parathyroid hormone level, Nephrolithiasis, Pri... ORPHA:653
Hypocalciuric Hypercalcemia, Familial, Type Ii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Pancreati... OMIM:145981
Multiple Endocrine Neoplasia Type 1
Melena, Increased serum serotonin, Pituitary growth hormone cell adenoma, Thymoma, Intestinal car... ORPHA:652
Preeclampsia
Chronic kidney disease, Small for gestational age, Abnormality of the kidney, Increased body mass... ORPHA:275555
L-Ferritin Deficiency
Decreased circulating ferritin concentration, Alopecia OMIM:615604
Multiple Endocrine Neoplasia, Type Iia
Medullary thyroid carcinoma, Parathyroid adenoma, Increased circulating cortisol level, Elevated ... OMIM:171400
Cystinosis, Nephropathic
Polydipsia, Hepatomegaly, Glycosuria, Hematuria, Genu valgum, Proteinuria, Weight loss, Failure t... OMIM:219800
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... ORPHA:189427
X-Linked Hypophosphatemia
Elevated circulating alkaline phosphatase concentration, Craniosynostosis, Upper limb metaphyseal... ORPHA:89936
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Alopecia universalis, Congenital alopecia totalis OMIM:104130
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Abs... OMIM:612964
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Severe short stature, Short long bone, Enlarged metaphyses, Irregular femoral epiphysi... OMIM:618728
Oculoskeletodental Syndrome
Hypocalcemia, Low anterior hairline, Hepatomegaly, Small for gestational age, Renal agenesis, Spl... OMIM:618440
Androgen Insensitivity Syndrome
Labial hypoplasia, Blind vagina, Sparse axillary hair, Absent facial hair, Elevated circulating l... OMIM:300068
Multiple Endocrine Neoplasia, Type Iib
Medullary thyroid carcinoma, Thick eyebrow, Pes cavus, Pheochromocytoma, Proximal femoral epiphys... OMIM:162300
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Isolated Osteopoikilosis
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... ORPHA:166119
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Elevated c... ORPHA:79303
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hip contracture, Clinodactyly of the 5th finger, Metaphyseal cupping, Hypopho... OMIM:156400
Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia
Primary hyperparathyroidism OMIM:600166
Melorheostosis
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... ORPHA:2485
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed ossification of carpal bones, ... OMIM:607078
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Osteopenia, Central diabetes insipidus, Enlarged polycystic ovaries, Pit... ORPHA:91348
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, T lymphocytopenia, Ridged nail, Nail dystrophy, Nail pits, Decreased helper T cell prop... OMIM:601705
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Sparse body hair, Onychogryposis of toenails, Dystrophic toenail, Alopecia of scalp OMIM:617294
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Severe intrauterine growth retardation, Hypocalcemia, Decreased response to growth hormone stimul... OMIM:241410
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Akinesia, Freezing of gait, Loss of ambulation, Blepharospasm, Falls, Unsteady ga... ORPHA:240094
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... OMIM:610755
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, Adrenocort... ORPHA:913
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis OMIM:615269
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone level, Short 3rd metacar... ORPHA:79444
Mccune-Albright Syndrome
Pituitary adenoma, Elevated circulating growth hormone concentration, Precocious puberty, Hyperth... OMIM:174800
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Generalized hirsutism, Hypocalcemia, Short stature, Nephropathy, Anonychia, H... ORPHA:1563
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Hypocalcemia, Short stat... ORPHA:2238
Corticobasal Syndrome
Akinesia, Bradykinesia, Memory impairment, Gait disturbance, Tremor, Somatic sensory dysfunction,... ORPHA:454887
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone level, Short 3rd metacar... ORPHA:79443
X-Linked Intellectual Disability, Cilliers Type
Failure to thrive, Clinodactyly of the 5th finger, Decreased serum testosterone concentration, Cr... ORPHA:163971
Multiple Endocrine Neoplasia Type 4
Thymoma, Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Rickets, Stage 5 chronic kidney disease OMIM:219900
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Poor suck, Weight loss, Abnormal esop... ORPHA:2198
East Syndrome
Hypomagnesemia, Hypokalemia, Polydipsia, Abnormal urinary electrolyte concentration, Salt craving... ORPHA:199343
Slc35A2-Cdg
Transient nephrotic syndrome, Craniosynostosis, Osteopenia, Hip subluxation, Limb joint contractu... ORPHA:356961
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Sudden cardiac death, Gout, Osteoporosis, Hypertriglyceridemia, Myocardial infarc... OMIM:610947
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Polydipsia, Renal juxtaglomerular c... OMIM:241200
Oliver-Mcfarlane Syndrome
Severe short stature, Decreased response to growth hormone stimulation test, Hypoplasia of penis,... OMIM:275400
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Flexion contracture OMIM:615883
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Pseudohypoparathyroidism, Type Ia
Short toe, Short stature, Elevated circulating parathyroid hormone level, Brachydactyly, Osteopor... OMIM:103580
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Bardet-Biedl Syndrome 17
Polydipsia, Mesoaxial hand polydactyly, Short fourth metatarsal, Micropenis, Polyuria, Brachydact... OMIM:615994
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypomagnesemia, Hypokalemia, Polydipsia, Short stature, Polyuria, Hypocalciuria, Salt craving, In... OMIM:612780
Schwartz-Jampel Syndrome, Type 1
High palate, Congenital hip dislocation, Micromelia, Long eyelashes in irregular rows, Anterior b... OMIM:255800
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Streak ovary, Alopecia, Osteopenia, Hypogonadism, Hypoplasia of the uterus, Dec... ORPHA:3464
Timothy Syndrome
Hypocalcemia, Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, H... OMIM:601005
Myoectodermal Gonadal Dysgenesis Syndrome
Sparse eyebrow, Clitoral hypoplasia, Pyloric stenosis, Bifid distal phalanx of the thumb, Hypopla... OMIM:618419
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Sclerosteosis
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis ORPHA:3152
Primary Fanconi Renotubular Syndrome
Hyperuricosuria, Glycosuria, Renal sodium wasting, Weight loss, Stage 5 chronic kidney disease, H... ORPHA:3337
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Hepatomegaly, Jaundice, Intrahepatic cholestasis with episodic... OMIM:211600
Juvenile Nephropathic Cystinosis
Polydipsia, Glycosuria, Elevated circulating creatinine concentration, Proteinuria, Proximal tubu... ORPHA:411634
Seckel Syndrome 7
Intrauterine growth retardation, Hypoplasia of the uterus, Abnormal carpal morphology, Severe sho... OMIM:614851
Coffin-Siris Syndrome 9
High palate, Hypertrichosis, Long nose, Depressed nasal bridge, Short nose, Long eyelashes, Intra... OMIM:615866
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... OMIM:616050
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Kennerknecht syndrome
High palate, Abdominal obesity, Malrotation of colon, Hypoplasia of the uterus, Toe clinodactyly,... OMIM:600908
Hypercalcemia, Infantile, 1
Nephrolithiasis, Failure to thrive, Polyuria, Hypercalciuria, Infantile hypercalcemia, Weight los... OMIM:143880
Bartter Syndrome, Type 3
Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassium, Polyuria, Hypocal... OMIM:607364
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Short statu... OMIM:619489
Pseudohypoparathyroidism, Type Ic
Short stature, Elevated circulating parathyroid hormone level, Brachydactyly, Osteoporosis, Hypot... OMIM:612462
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Decreased circulating cortisol level, Premature thelarche, Long penis, Testicular adren... ORPHA:90795
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Parc Syndrome
Absent eyebrow, Absent eyelashes, Alopecia OMIM:600331
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... ORPHA:3361
Medullary Thyroid Carcinoma
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Elevated calcitonin, ... ORPHA:1332
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Hypergonadotropic Hypogonadism-Cataract Syndrome
Recurrent fractures, Reduced bone mineral density, Hypergonadotropic hypogonadism, Short stature,... ORPHA:2410
5-Oxoprolinase Deficiency
Reduced 5-oxoprolinase level, Enterocolitis, Abdominal pain, Diarrhea, Vomiting OMIM:260005
Parathyroid Carcinoma
Polydipsia, Elevated circulating parathyroid hormone level, Weight loss, Nephrolithiasis, Thyroid... ORPHA:143
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating aldosterone level, Hypokalemia, Growth delay, Small for ... OMIM:218030
Aromatase Deficiency
Delayed epiphyseal ossification, Generalized hirsutism, Female infertility, Type II diabetes mell... ORPHA:91
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Diarrhea, Osteoporosis, Vomiting, Type I diabetes mellitus, Rickets OMIM:560000
Femoral-Facial Syndrome
Coxa vara, Renal hypoplasia/aplasia, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short ... ORPHA:1988
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Ventricular septal defect, Intrauterine growth retardation, Cardiomegaly, Flexion con... OMIM:616897
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased specific pneumococcal antibody level, Red... OMIM:615897
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Bloody diarrhea, Elevated circulating alkaline phosphatase concentration, Abnormal... ORPHA:67
Ectodermal Dysplasia 4, Hair/Nail Type
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... OMIM:602032
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypoplasia of the uterus, Mi... OMIM:614841
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Epiphyseal Dysplasia, Multiple, 1
Joint stiffness, Delayed epiphyseal ossification, Epiphyseal dysplasia, Disproportionate short-li... OMIM:132400
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Helix Syndrome
Nephrolithiasis, Hypokalemia, Polyuria, Hypocalciuria, Xerostomia, Hypohidrosis, Anhidrosis, Rena... OMIM:617671
Blepharophimosis-Impaired Intellectual Development Syndrome
Labial hypoplasia, Sparse eyebrow, Tapered finger, Long eyelashes, Aplastic/hypoplastic toenail, ... OMIM:619293
Immunodeficiency, Common Variable, 11
Crohn's disease, Failure to thrive, Decreased circulating IgG level, Mucoid diarrhea, Inflammatio... OMIM:615767
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Short stature, Broad femoral neck... OMIM:609324
Osteopetrosis, Autosomal Recessive 1
Coxa vara, Failure to thrive, Hypocalcemia, Osteomyelitis, Increased bone mineral density, Hepato... OMIM:259700
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hypokalemia, Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating ren... OMIM:613677
49,Xyyyy Syndrome
Abnormality of the testis size, Large carpal bones, Decreased serum testosterone concentration, E... ORPHA:99330
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Hypocalcemia, Severe short stature, Increased bone mineral density, Small for... OMIM:127000
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Osteoporos... OMIM:618187
Crandall Syndrome
Pili torti, Brittle hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hai... ORPHA:202
Ovarian Dysgenesis 2
Hirsutism, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenor... OMIM:300510
Moynahan Syndrome
Alopecia, Cachexia, Sparse hair, Hypogonadism ORPHA:2574
Neu-Laxova Syndrome
External genital hypoplasia, Cleft palate, Depressed nasal ridge, Osteopenia, Micromelia, Polymic... ORPHA:2671
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Depressed nasal bridge, Polydactyly, Hypoplastic ischia, Short nose, Decreased circu... OMIM:616910
Immunodeficiency 76
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Ch... OMIM:619164
Distal Renal Tubular Acidosis
Nephrolithiasis, Failure to thrive, Hypokalemia, Aminoaciduria, Decreased glomerular filtration r... ORPHA:18
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Short stature, Hypoplasia of th... OMIM:112910
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Short stature, Cone-shaped epiphysis, Abnormality of bo... ORPHA:3156
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... ORPHA:1646
Adamantinoma
Hypercalcemia, Pathologic fracture ORPHA:55881
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Elevated circulating parathyroid hormone level, Nephrolithiasis, Thyroid carcinoma, P... ORPHA:99880
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Sparse eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Osteopenia, Alopecia, Pr... ORPHA:2232
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hyperbilirubinemia, Steatorrhea, Diarrhea, Hypocholesterolemia, Rickets OMIM:607765
Calciphylaxis
Secondary hyperparathyroidism, Ectopic ossification, Hyperphosphatemia, Stage 5 chronic kidney di... ORPHA:280062
Preeclampsia/Eclampsia 1
Hypertension, Intrauterine growth retardation, Proteinuria, Elevated hepatic transaminase OMIM:189800
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Broad face, Elevated circulating parathyroid hormone level, Depressed nasal bridge... ORPHA:439822
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Genu recurvatum, Reduced bone mineral density, Talipes, Short metacarpal, Toe s... ORPHA:2611
Idiopathic Achalasia
Gastroesophageal reflux, Decreased prealbumin level, Recurrent aspiration pneumonia, Malnutrition... ORPHA:930
Osteopetrosis, Autosomal Dominant 3
Recurrent fractures, Osteopenia, Hyperparathyroidism OMIM:618107
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Myocardial infarction, Glomerular subendothelial elec... ORPHA:54370
X-Linked Intellectual Disability, Van Esch Type
Failure to thrive, Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptor... ORPHA:163976
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619665
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypocalcemia, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short... OMIM:607143
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Abnormal circulating calcium concentration, Reduced bone mineral density, Sh... OMIM:619795
Thumb Deformity And Alopecia
Alopecia, Short thumb, Short stature OMIM:188150
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Acne, Abnormal hair morphology, M... ORPHA:3000
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Decreased response to growth hormon... OMIM:606407
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... ORPHA:566943
Medullary Sponge Kidney
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria ORPHA:1309
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ventricular septal defect, Bloody diarrhea, Colonic atresia, Jejunal atresia, Lymph... OMIM:243150
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Disproportionate short-limb short stature, Short tibia, Aplasia of th... ORPHA:2098
Nephropathy, Deafness, And Hyperparathyroidism
Nephropathy, Hyperparathyroidism, Parathyroid hyperplasia, Renal insufficiency OMIM:256120
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Bulbous nose, Decreased serum testosterone concentration, Cryptorchidism, Smal... OMIM:300869
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Bilateral renal atrophy, Metatarsal osteolysis, Hypertension, Microg... OMIM:166300
Sanjad-Sakati Syndrome
Hypoparathyroidism, Severe intrauterine growth retardation, Hypocalcemia, Convex nasal ridge, Hyp... ORPHA:2323
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Irregular acetabular roof, Genu valg... OMIM:156500
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
X-Linked Agammaglobulinemia
Osteomyelitis, Hypocalcemia, Short stature, Alopecia, Arthritis, Autoimmunity, Neutropenia, Agamm... ORPHA:47
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Hypoplas... OMIM:617719
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Autoimmunity, Decreased circulating antibody l... ORPHA:169079
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple... OMIM:613101
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Disproport... OMIM:127300
Paget Disease Of Bone 2, Early-Onset
Sclerosis of skull base, Short femur, Fractures of the long bones, Femoral bowing, Osteolysis, In... OMIM:602080
Hypertension And Brachydactyly Syndrome
Short stature, Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Hypertension, Short... OMIM:112410
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Recurrent fractures, Precocious puberty, Abn... ORPHA:457059
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size OMIM:619689
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with ... OMIM:617006
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Cognitive impairment, Tremor, Gait ataxia ORPHA:98773
Gracile Bone Dysplasia
Failure to thrive, Hypocalcemia, Short stature, Flared metaphysis, Brachydactyly, Slender long bo... OMIM:602361
Oncogenic Osteomalacia
Abnormality of femur morphology, Tibial bowing, Hypophosphatemia, Fibrous dysplasia of the bones,... ORPHA:352540
Parkinson Disease 17
Tremor, Akinesia, Bradykinesia, Resting tremor OMIM:614203
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Short Rib-Polydactyly Syndrome
Nephronophthisis, Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Int... ORPHA:1505
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short stature, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia... OMIM:612447
Type 1 Diabetes Mellitus
Polydipsia, Decreased level of 1,5 anhydroglucitol in serum, Polyuria, Polyphagia, Diabetes mellitus OMIM:222100
Hypophosphatasia, Infantile
Failure to thrive, Disproportionate short-limb short stature, Craniosynostosis, Elevated plasma p... OMIM:241500
Axial Osteomalacia
Renal cyst, Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mine... OMIM:109130
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Recurrent fractures, Glycosuria, Renal Fanconi syndrome, Stage 5 chronic kidney disease, Rickets OMIM:268315
Spinocerebellar Ataxia 21
Apathy, Ataxia, Progressive cerebellar ataxia, Akinesia, Limb ataxia, Cognitive impairment, Menta... OMIM:607454
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Short... ORPHA:2725
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Tapered finger, Alopecia totalis, Abnormality of the nail, Short finger OMIM:302000
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, ... OMIM:604416
Perrault Syndrome 1
High palate, Talipes equinovarus, Short stature, Primary amenorrhea, Gonadal dysgenesis, Osteopor... OMIM:233400
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Hypocalcemia, Increased bone mineral density, Autoimmune hypo... ORPHA:36913
Grant Syndrome
Large face, Short stature, Abnormality of the glenoid fossa, Depressed nasal bridge, Facial asymm... ORPHA:2097
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Craniosynostosis, Enthesitis, Rickets of the lower limbs, Pseudo-fracture... ORPHA:289176
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Short stature, Brachyd... OMIM:226900
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Hyperinsulinemic hypoglycemia... ORPHA:411593
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone... ORPHA:100083
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
Hypomagnesemia 3, Renal
Nephrolithiasis, Failure to thrive, Hypomagnesemia, Chronic kidney disease, Renal tubular acidosi... OMIM:248250
Lessel-Kubisch Syndrome
Short stature, Sparse pubic hair, Renal hypoplasia, Renal insufficiency, Hypogonadism, Hypertensi... OMIM:618681
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm... OMIM:619949
Cartilage-Hair Hypoplasia
Large face, Sparse hair, Sparse eyebrow, Abnormally ossified vertebrae, Depressed nasal ridge, De... ORPHA:175
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia, Micrognathia, Tapered finger, Sandal gap, Intrauterine growth retardation ORPHA:1438
Acrodysostosis 1 With Or Without Hormone Resistance
Cone-shaped epiphyses of the phalanges of the hand, Mild postnatal growth retardation, Calvarial ... OMIM:101800
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased circulating renin level, Proximal tubulo... OMIM:241150
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Sparse hair, Osteopenia, Cone-shaped epiphysis, Broad nasal tip, Clitoral hypoplasia, Hypoplastic... OMIM:614813
Premature Ovarian Failure 13
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Cortisone Reductase Deficiency 1
Obesity, Hirsutism, Precocious puberty, Alopecia OMIM:604931
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Nicolaides-Baraitser Syndrome
Sparse hair, Alopecia, Eczema, Abnormal epiphysis morphology, Sandal gap, Long eyelashes, Thick n... ORPHA:3051
Lethal Faciocardiomelic Dysplasia
Intrauterine growth retardation, Microretrognathia, Hypoplastic left heart, Hypoplasia of the rad... ORPHA:1972
Acromesomelic Dysplasia 2C
Severe short-limb dwarfism, Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short... OMIM:201250
Infantile Nephropathic Cystinosis
Renal tubular dysfunction, Failure to thrive, Hypophosphatemia, Hypokalemia, Aminoaciduria, Hyper... ORPHA:411629
Rhizomelic Chondrodysplasia Punctata
Growth delay, Alopecia, Sparse body hair, Short stature, Spina bifida occulta, Flat face, Limb un... ORPHA:177
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Shuffling gait, Gait ataxia, Dystonia,... ORPHA:391411
46,Xy Sex Reversal 4
High palate, Anal atresia, Sex reversal, Hypoplasia of the uterus, Increased blood urea nitrogen,... OMIM:154230
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Recurrent fractures, Failure to thrive, Increased bone mineral density, Short ... OMIM:239000
Hypophosphatasia
Recurrent fractures, Craniosynostosis, Short stature, Bowing of the long bones, Hypercalcemia, Ab... ORPHA:436
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal calcium-phosphate regulating hormone level, Sparse hair, Abnormally ossified vertebrae, ... ORPHA:2636
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly, Enlarged epiphyses OMIM:264010
Neuroendocrine Tumor Of The Colon
Melena, Bowel urgency, Increased serum serotonin, Hepatomegaly, Facial telangiectasia, Weight los... ORPHA:100080
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia universalis, Sparse body hair, Memory impairment, Abnormal eyelash mo... ORPHA:1008
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Cleft palate, Short stature, Coronal craniosynostosis, Brachydactyly, Flat face, Genu ... OMIM:614078
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Diarrhea, Thrombocytopeni... OMIM:619802
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty OMIM:618117
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... OMIM:618969
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
46,Xy Sex Reversal 1
Sex reversal, Abnormality of male external genitalia, Elevated circulating luteinizing hormone le... OMIM:400044
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Hyper... OMIM:161900
Wiedemann-Steiner Syndrome
High palate, Failure to thrive, Short toe, Clinodactyly of the 5th finger, Constipation, Thick ey... OMIM:605130
Abruzzo-Erickson Syndrome
Short toe, Cleft palate, Short stature, Hypospadias, Coronal hypospadias, Brachydactyly, Radiouln... ORPHA:921
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Alopecia, Eczema, Decreased prealbumin level, Vomiting, Ant... ORPHA:37042
Genetic Recurrent Myoglobinuria
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Elevated aldolase level, Arrhythmia, Increased... ORPHA:99845
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Alopecia, Cachexia, Xerostomia, Nail d... OMIM:175500
Xp22.13P22.2 Duplication Syndrome
High palate, Flared nostrils, 2-3 toe syndactyly, Sparse hair, Short stature, Small hand, Broad n... ORPHA:284180
49,Xxxyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:261534
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
Maternally-Inherited Diabetes And Deafness
Type II diabetes mellitus, Abnormal circulating lipid concentration, Arrhythmia, Renal insufficie... ORPHA:225
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Prot... OMIM:613845
Nephronophthisis-Like Nephropathy 2
Polydipsia, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Ren... OMIM:619468
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Flexion contracture, Alopecia, Hypergonadotropic hypogonadism, Sparse body hai... ORPHA:2850
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619203
Dyssegmental Dysplasia, Silverman-Handmaker Type
Disproportionate short-limb short stature, Talipes equinovarus, Flat face, Bowing of the long bon... OMIM:224410
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... OMIM:618394
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium morphology... ORPHA:567544
Non-Functioning Pituitary Adenoma
Impotence, Decreased fertility in males, Central adrenal insufficiency, Vomiting, Erectile dysfun... ORPHA:91349
Legg-Calvé-Perthes Disease
Cartilage destruction ORPHA:2380
Atkin-Flaitz Syndrome
Short stature, Broad nasal tip, Coarse facial features, Tapered finger, Genu valgum, Joint laxity... OMIM:300431
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Generalized joint laxity, Short stature, Broad femoral neck, Short femoral ... OMIM:609325
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Hyper... OMIM:601894
Dermatosparaxis Ehlers-Danlos Syndrome
Joint stiffness, Coxa vara, Gastroesophageal reflux, Hiatus hernia, Coxa valga, Severe short stat... ORPHA:1901
Oculocerebrodental Syndrome
Metaphyseal dysplasia, Hypocalcemia, Short stature, Short 5th finger, Hypoplasia of the capital f... ORPHA:557003
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis, Osteoporosis OMIM:233300
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circula... OMIM:103900
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Short lower limbs, Abnormal epip... ORPHA:2501
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Hypokalemia, Increased urinary potassium, Palpitations, Adrenal hyperplasia, Decrease... ORPHA:231580
Neuroendocrine Tumor Of The Rectum
Melena, Bowel urgency, Increased serum serotonin, Hepatomegaly, Constipation, Hematochezia, Facia... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Melena, Bowel urgency, Increased serum serotonin, Hepatomegaly, Constipation, Hematochezia, Facia... ORPHA:100082
Zellweger Syndrome
High palate, Failure to thrive, Malabsorption, Wide anterior fontanel, Short stature, Hypospadias... ORPHA:912
Pendred Syndrome
Thyroid carcinoma, Nephropathy, Hypothyroidism, Hyperparathyroidism, Goiter ORPHA:705
Pseudomyxoma Peritonei
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Weight... ORPHA:26790
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Gaisböck Syndrome
Angina pectoris, Hypovolemia, Hyperproteinemia, Gout, Increased circulating renin level, Hypertri... ORPHA:90041
Pseudoprogeria Syndrome
Joint stiffness, Failure to thrive, Decreased body weight, Absent eyebrow, Sparse hair, Short sta... ORPHA:2985
17Q21.31 Microduplication Syndrome
High palate, Failure to thrive, Generalized hirsutism, Clinodactyly of the 5th finger, Thick eyeb... ORPHA:217340
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Reticular Dysgenesis
Failure to thrive, Malabsorption, Skin rash, Leukopenia, Diarrhea, Chronic otitis media, Abnormal... ORPHA:33355
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Failure to thrive, Proximal humeral metaphyseal irregularity, Ulnar deviation of the hand, Sparse... OMIM:602613
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Bowing of the long bones, Thickened co... ORPHA:53697
Ovarian Dysgenesis 4
Decreased body weight, Short stature, Primary amenorrhea, Decreased serum estradiol, Elevated cir... OMIM:616185
Clark-Baraitser syndrome
Broad nasal tip, Coarse facial features, Tapered finger, Genu valgum, Joint laxity, Exaggerated m... OMIM:300602
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Femoral bowing, Metaphyseal widening, Micrognathia, Brachydactyly, Micromelia, Hypop... ORPHA:440354
Cranioectodermal Dysplasia 1
Hepatomegaly, Sparse hair, Short nail, Hepatic failure, Hepatic cysts, Rhizomelia, Sagittal crani... OMIM:218330
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Decreased hip abduction, Proximal humeral metaphyseal irregulari... OMIM:183849
Familial Hyperaldosteronism Type Iii
Polydipsia, Hypokalemia, Left ventricular hypertrophy, Intracranial hemorrhage, Epistaxis, Hyperc... ORPHA:251274
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Pfapa Syndrome
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Arthritis, Weight loss, Infectious enc... ORPHA:42642
Brachydactyly-Arterial Hypertension Syndrome
Short stature, Brachydactyly, Short phalanx of finger, Hypertension, Short metacarpal ORPHA:1276
Tuberous Sclerosis Complex
Chronic kidney disease, Pituitary adenoma, Parathyroid adenoma, Carcinoid tumor, Abnormality of t... ORPHA:805
Bartter Syndrome Type 4
Hyperactive renin-angiotensin system, Failure to thrive, Hypomagnesemia, Hypokalemia, Hyperprosta... ORPHA:89938
Emery-Nelson Syndrome
High palate, Metacarpophalangeal joint contracture, Depressed nasal bridge, Camptodactyly of fing... ORPHA:1927
Leprechaunism
Failure to thrive, Hypertrichosis, Decreased body weight, Hypokalemia, Hepatomegaly, Hyperinsulin... ORPHA:508
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis OMIM:166260
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Genu valgum OMIM:618913
Keratoderma Hereditarium Mutilans
Cleft palate, Alopecia, Hypogonadotropic hypogonadism, Abnormality of the nail, Osteolysis, Hyper... ORPHA:494
Nephronophthisis 1
Growth delay, Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubul... OMIM:256100
Nail-Patella-Like Renal Disease
Short stature, Renal insufficiency, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria ORPHA:2613
Acrodysostosis With Multiple Hormone Resistance
Short metacarpal, Elevated circulating parathyroid hormone level, Cone-shaped epiphysis, Hypogona... ORPHA:280651
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Polyuria, Increased circulating renin level, Hypercalciuria, Hyponatremia, Medullary... OMIM:300971
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypocalcemia, Tricuspid regurgitation, Equinus calcaneus, Left ventricular hy... ORPHA:746
Blepharophimosis, Ptosis, And Epicanthus Inversus
High palate, Amenorrhea, Female infertility, Hypoplasia of the uterus, Depressed nasal bridge, Ir... OMIM:110100
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated cir... OMIM:619658
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Peroxisome Biogenesis Disorder 5A (Zellweger)
Failure to thrive, Talipes equinovarus, Cleft palate, Stippled chondral calcification, Polymicrog... OMIM:614866
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess OMIM:613148
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Reduced bone mineral density, Alopecia, Hypercalciuria, Abnormal fi... ORPHA:428
Occipital Horn Syndrome
Osteopenia, Coarse hair, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, Ab... ORPHA:198
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Severe short statur... ORPHA:1240
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Flexion contracture, Small for gestational age, Left ventricular hy... OMIM:616733
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Depressed nasal bridge, Rectal prolapse, Pachygyria, Talipes e... OMIM:235510
Gitelman Syndrome
Polydipsia, Graves disease, Gout, Type I diabetes mellitus, Proteinuria, Primary hyperaldosteroni... ORPHA:358
Rothmund-Thomson Syndrome Type 1
Sparse hair, Metaphyseal sclerosis, Osteopenia, Diarrhea, Sparse or absent eyelashes, Vomiting, A... ORPHA:221008
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea, Short stature OMIM:614129
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Severe short stature, Finger syndactyly, Sparse hair, Alopecia, Camptodactyly of finger, Onychogr... ORPHA:2251
Juvenile Paget Disease
Recurrent fractures, Short stature, Osteoporosis, Hyperuricemia, Bowing of the long bones, Hypert... ORPHA:2801
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Fibrodysplasia Ossificans Progressiva
Failure to thrive, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hal... ORPHA:337
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Adrenal insufficiency, Ulnar deviation of the hand, Central adrenal insufficiency, Flexion contra... OMIM:612079
Rabson-Mendenhall Syndrome
Hypertrichosis, Polydipsia, Long penis, Ventricular septal defect, Intrauterine growth retardatio... ORPHA:769
Budd-Chiari Syndrome
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Acute hepatic failure, Peritonitis, Ch... ORPHA:131
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea, Short stature OMIM:617690
Familial Hypocalciuric Hypercalcemia
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Pancreati... ORPHA:405
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, ... OMIM:616100
Eiken Syndrome
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... ORPHA:79106
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Anticardiolipin IgG antibody positivity, Absent isohemagglu... OMIM:615559
Fibronectin Glomerulopathy
Nephrotic syndrome, Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Pedal edema, R... ORPHA:84090
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Sparse eyebrow, Alopecia, Hypohidrosis, Hypothyroidism, Dystrophic toenail, Fi... ORPHA:1882
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:608320
Trichothiodystrophy 1, Photosensitive
Sparse hair, Short nose, Hypogonadism, Erythroderma, Malabsorption, Flexion contracture, Hyperker... OMIM:601675
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... ORPHA:210110
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Short stature, Facial asymmetry, Azoos... OMIM:601076
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating lutein... OMIM:301077
Desbuquois Dysplasia 2