Gene Summary

calcium-sensing receptor
Gprc2a,  cation sensing receptor,  CaR

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Casrtm1b(KOMP)Mbp HOM   Early adult 0.00
decreased prepulse inhibition Casrtm1b(KOMP)Mbp HET Early adult 3.57×10-09
enlarged uterus Casrtm1b(KOMP)Mbp HET Early adult 0.00
abnormal pancreas morphology Casrtm1b(KOMP)Mbp HET Early adult 0.00
small superior vagus ganglion Casrtm1b(KOMP)Mbp HET Early adult 0.00
edema Casrtm1b(KOMP)Mbp HET E15.5 0.00
increased circulating calcium level Casrtm1b(KOMP)Mbp HET Early adult 4.42×10-05
increased circulating phosphate level Casrtm1b(KOMP)Mbp HET Early adult 3.26×10-05

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Viewing: all phenotypes

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.

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Gross Morphology Embryo E14.5-E15.5


12 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Casr 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 predicted to be associated to Casr by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone... OMIM:618883
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath... OMIM:203330
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Hypercalcemia, Parathyroid adeno... OMIM:145980
Edema OMIM:614103
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Cerebral calcification, Nephrocalcinosis... OMIM:146200
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting OMIM:154020
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp... OMIM:145981
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Renal phosphat... OMIM:612089
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Hypokalemia, Hypercalciuria, Hypocalcemia, Nephrolithiasis,... OMIM:601198
Pseudohypoparathyroidism Type 2
Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Hypocalcemia, Pseudohypopa... ORPHA:94090
Hypercalcemia ORPHA:55881
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis, ... OMIM:616963
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Congenital hypoparathyroidism, Hypocalcemia, Hypercalciuria, Hypomagnesemi... ORPHA:2239
Familial Isolated Hyperparathyroidism
Elevated circulating parathyroid hormone level, Hypercalciuria, Primary hyperparathyroidism, Hype... ORPHA:99879
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath... OMIM:603233
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Polyuria, Elevated circulating parathyroid hormone level, Polydipsia, Calvarial osteo... OMIM:617994
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Renal potassium wasting, Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal magnesium ... ORPHA:564178
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Nephrocalcinosis, Hypercalcemia, Hyperparathyroidism OMIM:239199
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Depression, Parathormone-independent increased renal tubular calc... OMIM:600740
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Blue urine, Nephrocalcinosis, Hyp... ORPHA:94086
Hyperparathyroidism 4
Parathyroid carcinoma, Hypercalcemia, Nephrolithiasis, Primary hyperparathyroidism OMIM:617343
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Nephrocalcinosis, Hypercal... OMIM:143880
Small Cell Carcinoma Of The Bladder
Hematuria, Recurrent urinary tract infections, Dysuria, Hypercalcemia ORPHA:284400
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Femoral bowing, Tibial bowing, Hypophosphatemia, Metaphyseal irregularity, Rickets, Fibular bowin... OMIM:241530
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Hypocalciuria, Hypomagnesiuria, Reduced ratio of renal ca... ORPHA:405
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Postnatal growth retardation, Decreased response to growth hormone stimulation test, ... OMIM:614732
Parathyroid Carcinoma
Parathyroid carcinoma, Hypercalcemia, Hyperparathyroidism OMIM:608266
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency, Hyperparathyroidism ORPHA:2668
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Elevated circulating parathyroid hormone level, Flared metaphysis, Hypocalcemia, Meta... OMIM:619073
Hypomagnesemia 6, Renal
Hypomagnesemia, Impaired renal tubular reabsorption of magnesium OMIM:613882
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Conjunctival whitish salt-like deposi... OMIM:211900
Hyperparathyroidism, Neonatal Severe
Polyuria, Calcinosis, Elevated circulating parathyroid hormone level, Hypercalciuria, Primary hyp... OMIM:239200
Hypophosphatemic Rickets, X-Linked Dominant
Femoral bowing, Tibial bowing, Hypophosphatemia, Metaphyseal irregularity, Rickets, Fibular bowin... OMIM:307800
Rickets, Delayed puberty, Polydipsia, Hypokalemia, Nephropathy, Dehydration, Nephrogenic diabetes... ORPHA:213
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Subperiosteal bone resorption, Elevated circulating parathyroid hormone level, Hypocalce... OMIM:264700
Bartter Syndrome, Type 3
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hypocalciuria, Renal potassium wasti... OMIM:607364
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea... OMIM:300555
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Elevated circulating parathyroid hormone level, Decreased glomerular filtrat... OMIM:613388
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Anorexia, Isothenuria, Hypokalemia, Distal renal tubular acidosis, Reticulocytosis, Shor... OMIM:611590
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Abnormal form of the v... ORPHA:93160
Enamel-Renal Syndrome
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating os... ORPHA:1031
Genetic Recurrent Myoglobinuria
Hyperkalemia, Acute kidney injury, Proximal muscle weakness in upper limbs, Exercise-induced myog... ORPHA:99845
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level OMIM:618618
Familial Isolated Hypoparathyroidism
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Hypo... ORPHA:2238
Helix Syndrome
Hypermagnesemia, Polyuria, Hypokalemia, Hypocalciuria, Nephrolithiasis, Renal insufficiency, Hype... OMIM:617671
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Femoral bowing, Tibial bowing, Splenomegaly, Hypophosphatemia, Genu va... ORPHA:289157
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Renal phosphate wasting, Hypercalciuria, Nephrolithiasis, Hyperphosphaturia, Hypophosphatemia OMIM:612286
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Hypophosphatemic Rickets, X-Linked Recessive
Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Hypophosphatemia, Metaphys... OMIM:300554
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Hypophosphatemic rickets, Increased circulating beta-C-t... ORPHA:157215
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypokalemia, Hypercalciuria, Dehydration, Growth delay, Failure to thrive, Nephrocalcino... OMIM:602722
Dent Disease 1
Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Hypophosphatemia, Metaphys... OMIM:300009
Multiple Endocrine Neoplasia Type 1
Adrenocortical abnormality, Reduced bone mineral density, Neoplasm of the pancreas, Pheochromocyt... ORPHA:652
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Vitamin D-Dependent Rickets, Type 2A
Rickets, Subperiosteal bone resorption, Elevated circulating parathyroid hormone level, Hypocalce... OMIM:277440
Hypophosphatasia, Infantile
Disproportionate short-limb short stature, Elevated urine pyrophosphate, Short lower limbs, Nephr... OMIM:241500
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Chronic mucocutaneous candidiasis, Autoimmune hypoparathyroi... ORPHA:36913
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal salt wasting, Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Enuresis, Incr... OMIM:612780
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Primary Hyperoxaluria Type 1
Calcinosis, Hematuria, Decreased glomerular filtration rate, Recurrent urinary tract infections, ... ORPHA:93598
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Elevated circulating creatine kinase concentration, Exercise-induced rhabdomyolysis... OMIM:154275
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Hypokalemia, Renal potassium wasting, Nephrocalcinosis, Hypomagnesemia, Renal magnesium... OMIM:618314
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Polyuria, Hypokalemia, Hypocalcemia, Hyponatremia, Nephrocalcinosis, Hypomagnesemia OMIM:620152
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Elevated circulating parathyroid hormone level, Genu valgum, Generalized bone deminerali... OMIM:600785
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo... ORPHA:94059
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Renal phosphate wasting OMIM:612287
X-Linked Hypophosphatemia
Reduced bone mineral density, Flared iliac wing, Hypophosphatemia, Abnormal epiphysis morphology,... ORPHA:89936
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Low urinary cyclic AMP response to PTH administra... OMIM:103580
Pseudohypoparathyroidism Type 1B
Decreased response to growth hormone stimulation test, Low urinary cyclic AMP response to PTH adm... ORPHA:94089
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Elevated circulating creatine kinase concentration, Exercise-induced rhabdomyolysis... OMIM:154276
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Short stature, Hypophosphatemia, Oste... OMIM:193100
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Hypocalcemia, Femoral bowing, Tibial bo... OMIM:600081
Angioedema, Hereditary, 5
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619361
Multiple Endocrine Neoplasia Type 2
Kyphoscoliosis, Elevated circulating parathyroid hormone level, Elevated urinary catecholamine le... ORPHA:653
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypoparathyroidism, Clinodactyly of the 5th finger, Clubbing of fingers, Hypercalciur... OMIM:156400
Kenny-Caffey Syndrome, Type 1
Anemia, Calvarial osteosclerosis, Congenital hypoparathyroidism, Slender long bone, Hypocalcemia,... OMIM:244460
Central Diabetes Insipidus
Polydipsia, Anorexia, Diabetes insipidus, Depression, Dehydration, Hyponatremia, Failure to thriv... ORPHA:178029
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Iron deficiency anemia, Hypocalcemia, Growth delay, Hyperphosphaturia, Hypophosphatemia,... ORPHA:89937
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Astigmatism, Hypercalciuria, Recurrent urinary tract infections, Nephrolithiasis, Hypermagnesiuri... OMIM:248190
Multiple Endocrine Neoplasia, Type Iib
Pheochromocytoma, Scoliosis, Elevated urinary epinephrine level, Hyperlordosis, Kyphosis, Elevate... OMIM:162300
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Hypercalcemia ORPHA:33111
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Anterior polar cataract, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickene... OMIM:104200
Thymic Neuroendocrine Tumor
Osteopenia, Neoplasm of the endocrine system, Pancreatic islet cell adenoma, Neoplasm of the thym... ORPHA:97289
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Pseudohypoparathyroidism Type 1C
Calcinosis, Low urinary cyclic AMP response to PTH administration, Hypocalcemic seizures, Decreas... ORPHA:79444
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration, Rhabdomyolysis, ... OMIM:145600
Congenital Disorder Of Glycosylation, Type Iik
Kyphoscoliosis, Diaphyseal dysplasia, Hemolytic-uremic syndrome, Elevated circulating creatine ki... OMIM:614727
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Parathyroid carcinoma, Polycystic kidney dysplasia, Nephrolithiasis, Papi... OMIM:145001
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Renal hypoplasia, Hyponatremia, Nep... OMIM:617913
Gitelman Syndrome
Delayed puberty, Polydipsia, Neoplasm of the pancreas, Urinary incontinence, Renal potassium wast... ORPHA:358
Fanconi-Bickel Syndrome
Rickets, Hypertriglyceridemia, Osteopenia, Generalized aminoaciduria, Renal tubular acidosis, Hyp... ORPHA:2088
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Fibrous Dysplasia Of Bone
Abnormal femur morphology, Precocious puberty in females, Abnormality of the endocrine system, Ov... ORPHA:249
Dent Disease
Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Metaphyseal irregularity, Re... ORPHA:1652
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hyperphosph... OMIM:134600
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria, Hypophosphatemia, Dia... OMIM:616026
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Distal Renal Tubular Acidosis
Polydipsia, Reduced bone mineral density, Decreased glomerular filtration rate, Renal potassium w... ORPHA:18
Hypomagnesemia 3, Renal
Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated circulating cre... OMIM:248250
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Gitelman Syndrome
Delayed puberty, Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Enuresis, Increas... OMIM:263800
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration ORPHA:254704
Bartter Syndrome, Type 1, Antenatal
Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Hyperaldosteronism, ... OMIM:601678
Infantile Nephropathic Cystinosis
Rickets, Low-molecular-weight proteinuria, Abnormality of thyroid physiology, Polydipsia, Hypokal... ORPHA:411629
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost... OMIM:241520
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis, Subcutaneous calcification OMIM:617993
Parathyroid Carcinoma
Polydipsia, Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone le... ORPHA:143
East Syndrome
Renal salt wasting, Hypokalemia, Enuresis, Increased circulating renin level, Hypomagnesemia, Hyp... ORPHA:199343
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Abnormal odontoid process morphology, Squared-off platyspondyly, Precocious costo... OMIM:271630
Fanconi Renotubular Syndrome 3
Rickets, Low-molecular-weight proteinuria, Growth delay, Glycosuria, Hyperphosphaturia, Short sta... OMIM:615605
Zollinger-Ellison Syndrome
Glucagonoma, Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Adrenocorti... ORPHA:913
Cystinosis, Nephropathic
Delayed puberty, Polydipsia, Generalized aminoaciduria, Primary hypothyroidism, Renal Fanconi syn... OMIM:219800
Late-Onset Isolated Acth Deficiency
Anorexia, Normocytic anemia, Generalized bone demineralization, Hypoparathyroidism, Decreased cir... ORPHA:199299
Hypophosphatemic Bone Disease
Rickets, Short stature, Hypophosphatemia, Osteomalacia, Bowing of the legs OMIM:146350
2P21 Microdeletion Syndrome
Hypocalcemia, Nephrolithiasis, Hypogonadism, Cystinuria ORPHA:163693
Tumoral Calcinosis, Normophosphatemic, Familial
Abnormal blood phosphate concentration, Decreased circulating parathyroid hormone level, Abnormal... OMIM:610455
Pseudohypoparathyroidism Type 1A
Calcinosis, Low urinary cyclic AMP response to PTH administration, Hypocalcemic seizures, Decreas... ORPHA:79443
Galactosemia Ii
Cataract, Hypergalactosemia, Galactosuria OMIM:230200
Secondary hyperparathyroidism, Stage 5 chronic kidney disease, Hyperphosphatemia, Arterial calcif... ORPHA:280062
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalciuria, Scoliosis, Elbow flexion contracture, Thoracic kyphosis, Hypothyroi... OMIM:618440
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Hypophosphatemic rickets, Medullary nephrocalcinosis OMIM:613312
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Testicular neoplas... ORPHA:99880
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Fanconi-Bickel Syndrome
Rickets, Postnatal growth retardation, Increased serum bile acid concentration, Hypokalemia, Gene... OMIM:227810
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Metatropic Dysplasia
Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Disproportionate short-limb... OMIM:156530
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration, Foot... OMIM:615883
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... OMIM:611555
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... ORPHA:93284
Idiopathic Hypercalciuria
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis ORPHA:2197
Autosomal Recessive Kenny-Caffey Syndrome
Postnatal growth retardation, Hypocalcemic seizures, Calvarial osteosclerosis, Congenital hypopar... ORPHA:93324
Diastrophic Dysplasia
Kyphoscoliosis, Short finger, Neonatal short-limb short stature, Genu valgum, Irregular epiphyses... OMIM:222600
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Maternal Uniparental Disomy Of Chromosome 9
Kyphoscoliosis, Abnormal vertebral morphology, Congenital hypothyroidism, Hamstring contractures,... ORPHA:96183
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Elevated circulat... OMIM:609115
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Rickets, Polyuria, Proximal tubulopathy, Dehydration, Osteoporosis, Failure to thrive, Type I dia... OMIM:560000
Abnormal metaphysis morphology, Anemia, Bowing of the long bones, Short stature, Failure to thriv... ORPHA:436
Transient Neonatal Diabetes Mellitus
Abnormality of the kidney, Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinem... ORPHA:99886
Celiac Disease, Susceptibility To, 1
Rickets, Delayed puberty, Postnatal growth retardation, Iron deficiency anemia, Macrocytic anemia... OMIM:212750
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Kyphoscoliosis, Delayed pubic bone ossification, Proximal placement of thumb, Hypoplastic iliac w... OMIM:613330
Autosomal Dominant Hypocalcemia
Hypercalciuria, Hypocalcemia, Hypermagnesiuria, Eczematoid dermatitis, Nephrocalcinosis, Hypomagn... ORPHA:428
Bartter Syndrome, Type 5, Antenatal, Transient
Polyuria, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia, Increased circu... OMIM:300971
Mccune-Albright Syndrome
Abnormal femur morphology, Ovarian cyst, Hypophosphatemia, Polyostotic fibrous dysplasia, Monosto... ORPHA:562
Addison Disease
Delayed puberty, Generalized bone demineralization, Decreased circulating cortisol level, Type I ... ORPHA:85138
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level, Abnormality of circulating cortisol level, Left v... ORPHA:320
Progressive Osseous Heteroplasia
Limitation of joint mobility, Ectopic ossification in muscle tissue, Osteoarthritis, Brachydactyl... ORPHA:2762
Familial Tumoral Calcinosis
Calcification of muscles, Skin rash, Nephrocalcinosis ORPHA:53715
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Hypomag... OMIM:613845
Cataract 42
Cataract, Developmental cataract OMIM:115900
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Decreased HDL cholesterol concentration, Cataract OMIM:618463
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Renal salt wasting, Increased circulating corticosterone level, Dehydration, Increa... OMIM:610600
Juvenile Nephropathic Cystinosis
Proximal tubulopathy, Corneal crystals, Hypophosphatemia, Elevated circulating creatinine concent... ORPHA:411634
Renal Tubular Acidosis, Proximal
Rickets, Hypercalciuria, Short stature, Proximal renal tubular acidosis, Osteomalacia, Elevated c... OMIM:179830
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Neoplasm of the adrenal cortex, Scoliosis, S... ORPHA:163634
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Beaking of vertebral bodies, Internal tibial torsion, Stiff neck, Vertebral wedgi... OMIM:616583
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Anemia, Dehydration, Hyperammonemia, Failure to thrive, Dystonia, Thrombocytopenia, Spl... ORPHA:79312
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypokalemia, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hy... OMIM:613677
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho... ORPHA:3337
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia, Abnormal vagina morphology ORPHA:2123
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypercalciuria, Hypocalcemia, Abnormal renal tubular resorption, Hypermag... ORPHA:73224
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Anemia, Transient hypophosphatemia, Abnormality of the medullary cavity of th... OMIM:127000
Primary Hyperoxaluria Type 3
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ... ORPHA:93600
Dystonia 31
Abnormal posturing, Leg dystonia, Writer's cramp, Depression, Craniofacial dystonia, Arm dystonia... OMIM:619565
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Cholelithiasis, Short stature, Failure to thrive, Splenomegaly, Conjugated h... OMIM:211600
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Hypothyroidism, Congenital, Nongoitrous, 7
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Growth delay, Short stat... OMIM:618573
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita OMIM:208155
Propionic Acidemia
Increased level of hippuric acid in urine, Anemia, Pancytopenia, Hyperglycinuria, Dehydration, Os... OMIM:606054
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Abnor... ORPHA:79230
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Enlarged kidney, Polyphagia, Episodic hemolytic anemia, Increased blood urea nit... ORPHA:251004
Linear Verrucous Nevus Syndrome
Abnormality of the kidney, Reduced bone mineral density, Scoliosis, Short metacarpal, Hypophospha... ORPHA:2611
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Paget Disease Of Bone 6
Nephrocalcinosis, Osteoarthritis, Left ventricular hypertrophy OMIM:616833
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Dehydration, Hyperammonemia, Failure to thrive, Renal insufficiency, Lethargy ORPHA:28
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia OMIM:201710
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Renal tubular acidosis, Nephrogenic diabetes insipidus, Glycosuria, Nephroc... OMIM:613404
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Oste... ORPHA:398063
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Hypocalcemia, Ragged-red muscle fibers, Fa... OMIM:606407
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Postnatal growth retardation, Elevated serum 11-deoxycortisol, Abnormal circulating... ORPHA:556030
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Kyphoscoliosis, Spinal rigidity, Scoliosis, Elevated circulating creatine kinase concentration, W... OMIM:620386
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu... OMIM:613673
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Abnormal transferrin saturation, Anterior subcapsular cataract,... OMIM:600886
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Hypercalciuria, Inc... OMIM:239000
Chronic Hiccup
Depression, Dehydration, Abnormal eating behavior, Weight loss ORPHA:396
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Renal Tubular Acidosis Iii
Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, Nephrolithiasis, Hypokalemia OMIM:267200
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hyperoxaluria, Nephrocalcinosis, Hypocitraturia, Nephrolithiasis OMIM:620374
Lowe Oculocerebrorenal Syndrome
Kyphosis, Pathologic fracture, Joint hypermobility, Stage 5 chronic kidney disease, Aggressive be... OMIM:309000
Infantile Myofibromatosis
Abnormal metaphysis morphology, Abnormality of the kidney, Neoplasm of the pancreas, Bone cyst, L... ORPHA:2591
Hyperoxaluria, Primary, Type Ii
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Renal insufficiency OMIM:260000
Combined Oxidative Phosphorylation Deficiency 47
Dehydration, Short palm, Failure to thrive, Short neck, Dysphagia, Platyspondyly, Toe syndactyly,... OMIM:618958
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Renal salt wasting, Dehydration, Increased circulating renin level, Hyponatremia, F... OMIM:203400
Rhizomelic Chondrodysplasia Punctata, Type 1
Kyphoscoliosis, Severe failure to thrive, Rhizomelia, Flared metaphysis, Epiphyseal stippling, Ca... OMIM:215100
Primary Hyperoxaluria Type 2
Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc... ORPHA:93599
Bartter Syndrome, Type 2, Antenatal
Polydipsia, Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Hyperald... OMIM:241200
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Renal salt wasting, Abnormal circulating renin, Congenital hypothyroidism, Precocio... OMIM:614736
Sanjad-Sakati Syndrome
Astigmatism, Hypoparathyroidism, Congenital hypoparathyroidism, Hypoplasia of penis, Hypocalcemia... ORPHA:2323
Non-Functioning Paraganglioma
Hematuria, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, Paraganglio... ORPHA:94080
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Congenital hypopara... OMIM:241410
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Renal insufficiency, Hypocalcemia, Hypothyroidism, Cataract, Nephropathy ORPHA:1563
Oncogenic Osteomalacia
Abnormal fibula morphology, Abnormal femur morphology, Abnormal vertebral morphology, Renal phosp... ORPHA:352540
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Kyphoscoliosis, Second metatarsal posteriorly placed, Elbow flexion contractu... OMIM:214150
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine growth retardation, Severe failure to thrive, Dehydration, Transient neonatal diabet... OMIM:601410
Tuberous Sclerosis Complex
Hyperactivity, Pheochromocytoma, Impulsivity, Pituitary adenoma, Parathyroid adenoma, Stage 5 chr... ORPHA:805
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine level, Pheochromocytoma, Hypercalcemia, Proteinuria OMIM:171420
Kyphoscoliosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Pl... ORPHA:85198
Scleroderma, Familial Progressive
Calcinosis OMIM:181750
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Paget Disease Of Bone 2, Early-Onset
Vertebral compression fracture, Sandwich appearance of vertebral bodies, Osteosclerosis of the ul... OMIM:602080
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Renal salt wasting, Hyperactive renin-angiotensin system, Dehydration, Pseudohypoal... OMIM:264350
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Diabetes mellitus, Hypercholesterolemia, Hypocalcemia OMIM:612526
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Kyphosi... ORPHA:534
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Abnormal circulating creatine kinase concentration, Scoliosis, Kyphosis, Cryptorc... OMIM:618484
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Postnatal growth retardation, Hyperbilirubinemia, Abnormal serum bile acid concentration... ORPHA:79303
Hypercholanemia, Familial 1
Rickets, Failure to thrive, Increased serum bile acid concentration OMIM:607748
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Cataract OMIM:190330
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... OMIM:300539
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Hypocalcemia, Short stature, Failure to thrive, Splenomegaly ORPHA:172
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Disproportionate short stature, Genu valgum, Small epiphyses, Scoliosis, Short lo... OMIM:618363
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypokalemia, Hyper... ORPHA:47159
Malignant Hyperthermia Of Anesthesia
Acute rhabdomyolysis, Acute kidney injury, Hyperkalemia, Abnormality of masseter muscle, Necrotiz... ORPHA:423
Autosomal Recessive Hypophosphatemic Rickets
Tibial bowing, Abnormality of renal excretion, Craniosynostosis, Renal hypophosphatemia, Genu var... ORPHA:289176
Oculoskeletodental Syndrome
Hypocalcemia, Scoliosis, Hyperlordosis, Thoracic kyphosis, Short stature, Hypoplasia of the capit... ORPHA:557003
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Genu valgum, Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Hypo... OMIM:618913
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Growth delay, Hypophosphatemia, Chronic kidney disease, Renal ins... ORPHA:469
Classic Galactosemia
Delayed puberty, Reduced bone mineral density, Depression, Abnormal erythrocyte enzyme concentrat... ORPHA:79239
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Adrenal Hypoplasia, Congenital
Delayed puberty, Renal salt wasting, Adrenal hypoplasia, Dehydration, Precocious puberty, Absence... OMIM:300200
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Delayed proximal femoral epiphyse... ORPHA:95717
Anorexia, Neoplasm of the pancreas, Increased circulating gonadotropin level, Normochromic anemia... ORPHA:97282
Glycine Encephalopathy 1
Hyperactivity, Hyperglycinuria, Impulsivity, Restlessness, Hyperglycinemia, Lethargy, Aggressive ... OMIM:605899
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating thyroglobuli... ORPHA:95716
Rajab Interstitial Lung Disease With Brain Calcifications 1
Reduced bone mineral density, Ascites, Unconjugated hyperbilirubinemia, Intrauterine growth retar... OMIM:613658
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Slender metacarpals, Metaphyseal irregularity, Joint hypermobility, Gen... ORPHA:93360
Nathalie Syndrome
Cataract ORPHA:2663
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormality of the parathyroid gland, Abnormal circulating calcium concentration, Secondary hyper... ORPHA:140286
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Progressive Pseudorheumatoid Dysplasia
Kyphoscoliosis, Sclerotic vertebral endplates, Platyspondyly, Enlarged metacarpophalangeal joints... OMIM:208230
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Kyphoscoliosis, Abnormal fear-induced behavior, Resting tremor, Hyperactivity, Tremor, ... ORPHA:3077
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Failure to thrive, Increased level of methylsuccinic acid in urine, Dyston... ORPHA:26792
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Cone-shaped epi... OMIM:101800
Glucose-Galactose Malabsorption
Hematuria, Nephrolithiasis, Hypernatremia, Hypercalcemia, Renal insufficiency ORPHA:35710
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Bradykinesia, Kyphoscoliosis, Resting tremor, Bruxism, Scoliosis, Tremor, Wrist flexion contractu... OMIM:300055
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Edema, Oliguria, Oligohydramnios, Short stature, Hyponatrem... ORPHA:97362
Warburg Micro Syndrome 1
Kyphoscoliosis, Osteoporosis, Short stature, Failure to thrive, Joint hypermobility, Overlapping ... OMIM:600118
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Cholelithiasis, Dehydration, Glucocortocoid-insensitive primary hyperaldosteronism,... ORPHA:171876
Methylcobalamin Deficiency Type Cble
Postnatal growth retardation, Glomerulopathy, Hemolytic-uremic syndrome, Macrocytic anemia, Pancy... ORPHA:2169
Neurodevelopmental Disorder With Language Delay And Seizures
Obsessive-compulsive trait, Hypothyroidism, Growth delay, Hypomagnesemia, Attention deficit hyper... OMIM:619908
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Acute Adrenal Insufficiency
Delayed puberty, Hyperkalemia, Normocytic anemia, Renal salt wasting, Anorexia, Hyperuricemia, Ad... ORPHA:95409
Osteogenesis Imperfecta, Type Xxii
Abnormal blood phosphate concentration, Reduced bone mineral density, Slender long bone, Bowing o... OMIM:619795
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Osteopenia, Osteomalacia, Scoliosis, Osteoporosis, Coxa vara, Joint stiffness, Severe sh... ORPHA:1901
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Elevated urinary dihydrothymine level, Hyperactivity, Growth delay, Failure to thrive... OMIM:274270
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Agitation, Hyperinsulinemia, Hypophosphatemic rickets, Tremor, Increas... ORPHA:263455
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Premature pubarche, Short stature, Lumbar scoliosis, Lower limb undergrowth, Brac... OMIM:612847
Pearson Syndrome
Reticulocytosis, Splenomegaly, Hypophosphatemia, Dysphagia, Pancreatic fibrosis, Neutropenia, Lac... ORPHA:699
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria OMIM:619813
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Joint hypermobility, Kyphoscoliosis, Elevated circulating creatine kinase concentration, Osteopenia ORPHA:300179
Flynn-Aird Syndrome
Kyphoscoliosis, Increased bone mineral density, Osteoporosis, Joint stiffness, Increased bone den... OMIM:136300
Ck Syndrome
Kyphoscoliosis, Hyperactivity, Long fingers, Slender build, Joint hypermobility, Long toe, Lumbar... ORPHA:251383
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Disproportionate short stature, Reduced bone mineral density, Sco... ORPHA:2501
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Hyp... ORPHA:284426
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Hypophosphatemic rickets, Anemia, Proximal tubulopathy, Organic a... OMIM:619743
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Ankle flexion contracture, Foot joint contracture, Shoulder flexion contracture, ... ORPHA:536516
Rhabdoid Tumor
Renal neoplasm, Anemia, Hematuria, Hypercalcemia, Thrombocytopenia, Weight loss ORPHA:69077
Peroxisome Biogenesis Disorder 10B
Cataract, Neurogenic bladder, Nephrocalcinosis OMIM:617370
Combined Malonic And Methylmalonic Acidemia
Methylmalonic acidemia, Dicarboxylic aciduria, Dehydration, Failure to thrive, Dystonia, Dicarbox... ORPHA:289504
Disproportionate short-limb short stature, Short long bone, Flat acetabular roof, Short metacarpa... OMIM:258480
Short metatarsal, Short metacarpal, Osteoporosis, Pseudohypoparathyroidism, Short stature, Obesit... OMIM:612463
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Agitation, Maturity-onset diabetes of the young, Hyperinsulinemia, Mat... ORPHA:324575
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Hyperprostaglandinuria, Hypokalemia, Hypercalciuria, Imp... ORPHA:89938
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Flexion contracture of toe, Wrist flexion contracture, Anterior bowing of long bo... OMIM:255800
Combined Oxidative Phosphorylation Deficiency 52
Anorexia, Lacticaciduria, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase ... OMIM:619386
Autosomal Dominant Kenny-Caffey Syndrome
Postnatal growth retardation, Abnormal circulating follicle-stimulating hormone concentration, Ca... ORPHA:93325
Tyrosinemia Type 1
Splenomegaly, Rickets of the lower limbs, Generalized aminoaciduria ORPHA:882
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Agitation, Hyperinsulinemia, Diffuse pancreatic islet hyperplasia, Pol... ORPHA:276575
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Kyphoscoliosis, Hypermobility of interphalangeal joints, Atlantoaxial abnormality, Broad thumb, S... ORPHA:3433
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Lymphocytosis, Hyperbilirub... ORPHA:1667
Foxg1 Syndrome
Kyphoscoliosis, Severe postnatal growth retardation, Scoliosis, Decreased body weight, Stereotypi... ORPHA:561854
King-Denborough Syndrome
Kyphoscoliosis, Scoliosis, Thoracic kyphosis, Elevated circulating creatine kinase concentration,... OMIM:619542
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Hypernat... ORPHA:289548
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Oromandibular dystonia, Writer's cramp, Torticollis, Depression, Torsion dyst... OMIM:128100
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Hypernat... ORPHA:168558
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Tremor, Unilateral radi... ORPHA:476126
Bile Acid Conjugation Defect 1
Rickets, Conjugated hyperbilirubinemia OMIM:619232
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Kyphoscoliosis, Patellar hypoplasia, Truncal obesity, Flexion contracture of digit, Hyperextensib... ORPHA:3041
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic oral candidiasis, Hypoparathyroidism, Chronic active hepatitis, Chronic mucocutaneous can... OMIM:240300
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis OMIM:618773
Neuroleptic Malignant Syndrome
Hyperkalemia, Acute kidney injury, Urinary incontinence, Hyperuricemia, Hypocalcemia, Myoglobinur... ORPHA:94093
Wilson Disease
Ascites, Limb dystonia, Splenomegaly, Dysphagia, High nonceruloplasmin-bound serum copper, Joint ... OMIM:277900
Reticular Dysgenesis
Anemia, Dehydration, Failure to thrive, Leukopenia, Weight loss, Aplasia/Hypoplasia of the thymus... ORPHA:33355
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Decreased thyroid-stimulating hormone level, Hypercholesterolemia, Depression, Macr... ORPHA:90674
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Intellectual Developmental Disorder, X-Linked 111
Kyphoscoliosis, Hyperactivity, Compulsive behaviors, Phonic tics, Dystonia, Aggressive behavior OMIM:301107
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Renal tubular acidosis, Nephrogenic diabetes insipidus, Nephrocalcinosis, R... OMIM:208085
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Methylmalonic aciduria, Methylmalonic acidemia, Normochromic anemia, Hyperhom... OMIM:614857
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Kyphoscoliosis, Localized osteoporosis, Akinetic mutism, Pseudobulbar paralysis, Back pain, Cervi... ORPHA:199354
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Agitation, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic isl... ORPHA:276580
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased red blood cell count, Elevated plasma cell coun... ORPHA:90041
Vitamin B12-Unresponsive Methylmalonic Acidemia
Anemia, Macrocytic anemia, Dehydration, Hyperammonemia, Thrombocytopenia, Leukopenia, Choreoathet... ORPHA:27
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypertriglyceridemia, Hypoparathyroidism, Congenital megaureter, Slender long bone, H... ORPHA:369837
Hyperekplexia 4
Kyphoscoliosis, Abnormal circulating acylcarnitine concentration, Camptodactyly, Flexion contract... OMIM:618011
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Kyphoscoliosis, Platyspondyly, Flat capital femoral epiphysis, Flared metaphysis, Dis... OMIM:612350
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased circulating hemoglobin concentration, Elevated circ... OMIM:611783
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Increased circulating androstenedione concentration, Renal salt wasting, Penoscrota... ORPHA:90791
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Corneal opacity, Precocious puberty, Hyperphosphaturia, Horseshoe kidney OMIM:163200
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone deficienc... ORPHA:398079
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Short long bone, Broad femoral neck, Intrauterine growth retardation, Butterfly v... OMIM:611209
Albers-Schönberg Osteopetrosis
Abnormal metaphysis morphology, Genu valgum, Anemia, Abnormal metacarpal morphology, Hypocalcemia... ORPHA:53
Allan-Herndon-Dudley Syndrome
Kyphoscoliosis, Abnormality of thyroid physiology, Polyhydramnios, Decreased body mass index, Sho... ORPHA:59
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Insulinoma, Developmental cataract, Type II diabetes mellitus, Hyperinsul... OMIM:147630
Generalized Pustular Psoriasis
Cheilitis, Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis, Palmop... ORPHA:247353
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased circulating hemoglobin concentration, Elevated circ... OMIM:617907
Osteootohepatoenteric Syndrome
Reduced bone mineral density, Anemia, Increased serum bile acid concentration, Hypokalemia, Dehyd... OMIM:619377
Lymphatic Malformation 3
Lymphedema OMIM:613480
Multiple Myeloma
Osteopenia, Acute kidney injury, Anemia, Vertebral compression fracture, Abnormality of the bladd... ORPHA:29073
Short Stature, Dauber-Argente Type
Osteopenia, Increased insulin like growth factor binding protein acid labile subunit concentratio... OMIM:619489
Erythrocytosis, Familial, 2
Increased red blood cell mass, Failure to thrive, Increased circulating hemoglobin concentration,... OMIM:263400
Primary Intestinal Lymphangiectasia
Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Hypoproteinemia, Pleural effu... ORPHA:90362
Arterial Calcification, Generalized, Of Infancy, 2
Arterial calcification, Nephrocalcinosis, Coronary artery calcification, Hypophosphatemic rickets OMIM:614473
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hematuria, Extraadrenal pheochromocytoma, Glomerular sclerosis, Adrenal pheochromocytoma, Elevate... ORPHA:276621
Hemochromatosis, Type 2A
Arthritis, Increased circulating iron concentration, Splenomegaly, Lethargy, Increased circulatin... OMIM:602390
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Decreased muscle mass, Nephrocalcinosis, Diabetes insipidus, Facial hypotonia ORPHA:500533
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral me... OMIM:614856
Spondylometaphyseal Dysplasia, Kozlowski Type
Narrow greater sciatic notch, Kyphoscoliosis, Carpal bone hypoplasia, Cone-shaped epiphyses of th... OMIM:184252
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Anemia, Hypokalemia, Clubbing of fingers, Hypocalcemia, Cachexia, Clubbing, Hypomagnese... OMIM:175500
Proteus Syndrome
Kyphoscoliosis, Calvarial hyperostosis, Mandibular hyperostosis, Spinal canal stenosis, Facial hy... OMIM:176920
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Agitation, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyp... ORPHA:276556
Familial Hyperaldosteronism Type Iii
Hypokalemia, Hypercalciuria, Abnormal circulating renin, Glucocortocoid-insensitive primary hyper... ORPHA:251274
Autosomal Dominant Brachyolmia
Abnormal metaphysis morphology, Kyphoscoliosis, Increased vertebral height, Short stature, Platys... ORPHA:93304
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Abnormal temper tantrums, Clinodactyly of the 2nd finger, Hypocalciuria, Hypophosphat... ORPHA:73223
Anorexia, Neoplasm of the pancreas, Increased circulating gonadotropin level, Normochromic anemia... ORPHA:97280
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Hyperinsulinemia, Tremor, Increased body weight, Hyperinsulinemic hypoglycemia, Pancre... ORPHA:276608
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormality of the endocrine system, Abnormal blood ion concentration, Psoriasiform dermatitis, T... ORPHA:37042
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Delayed puberty, Kyphoscoliosis, Increased vertebral height, Abnormal vertebral morphology, Hyper... OMIM:616817
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Arthritis, Testicu... ORPHA:465508
Hyperinsulinemia, Neoplasm of the adrenal gland, Tremor, Increased body weight, Polyphagia, Prima... ORPHA:97279
Hypophosphatasia, Adult
Rickets, Pathologic fracture, Osteomalacia, Recurrent fractures, Increased susceptibility to frac... OMIM:146300
Pearson Marrow-Pancreas Syndrome
Complex organic aciduria, Type I diabetes mellitus, Pancreatic fibrosis, Neutropenia, Anorexia, H... OMIM:557000
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Increased body weight, Impulsivity, Kyphosis, Hypogonadism, Hypothalamic l... ORPHA:398069
Anorexia, Neoplasm of the pancreas, Increased circulating gonadotropin level, Hypochromic microcy... ORPHA:97283
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Abnormal form of th... ORPHA:3429
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Kyphoscoliosis, Hyperhomocystinemia, Depression, Homocystinuria, Scoliosis, Limitation of joint m... OMIM:236200
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Kyphoscoliosis, Dysphagia, Knee flexion contracture ORPHA:496689
Bardet-Biedl Syndrome 18
Cataract, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed puberty, Deviation of the 5th toe, Kyphoscoliosis, Slender toe, Small for gestational age... ORPHA:391408
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... ORPHA:556037
Hypokalemic Tubulopathy And Deafness
Increased circulating renin level, Renal salt wasting, Hyperaldosteronism OMIM:619406
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Anorexia, Failure to thrive, Lethargy ORPHA:79283
Developmental And Epileptic Encephalopathy 40
Small for gestational age, Choreoathetosis, Lethargy, Intrauterine growth retardation OMIM:617065
Hereditary Central Diabetes Insipidus
Polydipsia, Diabetes insipidus, Growth delay, Weight loss, Lethargy ORPHA:30925
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyperactive renin-angiotensin system, Dehydration, Pseudohypoaldosteronism, Increas... OMIM:177735
Richieri Costa-Da Silva Syndrome
Kyphoscoliosis, Beaking of vertebral bodies, Genu valgum, Generalized bone demineralization, Vert... ORPHA:3101
Anorexia, Neoplasm of the pancreas, Increased circulating gonadotropin level, Cholelithiasis, Adr... ORPHA:97278
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis, Short stature, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe... OMIM:600384
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Unilateral renal dysplasia, Hypoparathyroidism, Nephrotic syndrome, Thickened glomerul... OMIM:146255
Juvenile Dermatomyositis
Calcinosis, Elevated circulating C-reactive protein concentration, Myositis, Arthritis, Skin rash... ORPHA:93672
White Sponge Nevus 2
Edema OMIM:615785
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypoparathyroidism, Unilateral renal agenesis, Hypocalcemia, Polycystic ki... ORPHA:2237
X-Linked Agammaglobulinemia
Chronic otitis media, Hypocalcemia, Arthritis, Skin rash, Sinusitis, Recurrent pneumonia, Conjunc... ORPHA:47
Hereditary Pheochromocytoma-Paraganglioma
Hematuria, Extraadrenal pheochromocytoma, Glomerular sclerosis, Adrenal pheochromocytoma, Elevate... ORPHA:29072
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Postnatal growth retardation, Osteopetrosis, Stage 3 chronic kidney disease, Anemia... OMIM:620366
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Hypertriglyceridemia, Polyuria, A... OMIM:618183
Spondyloepiphyseal Dysplasia, Maroteaux Type
Kyphoscoliosis, Genu valgum, Generalized osteoporosis, Short palm, Mucopolysacchariduria, Atlanto... OMIM:184095
Severe Canavan Disease
Joint stiffness, Elevated urine N-acetylaspartic acid level, Lethargy, Oral-pharyngeal dysphagia ORPHA:314911
Neu-Laxova Syndrome
Rickets, Osteopenia, Polyhydramnios, Scoliosis, Osteoporosis, Opisthotonus, Flexion contracture, ... ORPHA:2671
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Kyphoscoliosis, Flexion contracture of toe, Flared metaphysis, Dislocated rad... OMIM:610758
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Band keratopathy, Cerebral calcification, Bicarbonate-wasting renal tubular acidosis... OMIM:604278
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s... ORPHA:90673
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperinsulinemia, Elbow flexion contracture, Hyperlipidemia, Camptodactyly, Flexion c... OMIM:248370
Carpenter Syndrome
Polydactyly, Kyphoscoliosis, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad th... ORPHA:65759
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Methylmalonic Aciduria, Cbla Type
Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, Methylmalonic acidemia, Ane... OMIM:251100
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Dehydration, Decreased c... ORPHA:79159
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Postural tremor, Ankle flexion contracture, Wrist flexion contracture, Kyphoscoliosis OMIM:616668
Bacterial Toxic-Shock Syndrome
Myocarditis, Elevated circulating creatinine concentration, Renal insufficiency, Myositis, Arthri... ORPHA:36234
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Methylmalonic aciduria, Dehydration OMIM:614265
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Homocystinuria, Megaloblastic ane... OMIM:236270
Occipital Horn Syndrome
Large iliac wing, Absent tibia, Kyphosis, Dysphagia, Aplasia/hypoplasia of the humerus, Joint hyp... ORPHA:198
Bangstad Syndrome
Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Deviation of finger, Short stature,... ORPHA:1227
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemia, Proximal tubulopathy, Increased serum prostaglandi... OMIM:241150
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Brachyolmia Type 1, Hobaek Type
Osteopenia, Short iliac bones, Squared-off platyspondyly, Lumbar hypolordosis, Platyspondyly, Int... OMIM:271530
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Joint hypermobility, Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Delayed ossification of carpal bones, Decreased body weight, Kyphos... OMIM:618392
Hyperlysinuria With Hyperammonemia
Hyperlysinemia, Growth delay, Hyperammonemia, Dibasicaminoaciduria, Hyperlysinuria, Lethargy OMIM:238750
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal circulating calcium-phosphate regulating hormone concentration, Aplasia/hypoplasia of th... ORPHA:2636
Mitochondrial Complex I Deficiency, Nuclear Type 8
Kyphoscoliosis, Stiff neck, Axial dystonia, Dystonia, Dysphagia OMIM:618230
Ring Chromosome 10 Syndrome
Hypocalcemia, Renal hypoplasia/aplasia ORPHA:1438
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Nephrocalcinosis, Diabetes insipidus, Facial hypotonia OMIM:611087
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Anemia, Pancytopenia, Increased bone min... OMIM:259700
19P13.3 Microduplication Syndrome
Kyphoscoliosis, Hip subluxation, Hyperactivity, Osteoporosis, Unilateral cryptorchidism, Precocio... ORPHA:447980
Intellectual Developmental Disorder, X-Linked 19
Kyphoscoliosis, Scoliosis, Small for gestational age OMIM:300844
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Skeletal muscle steatosis, Glycosuria, Hyperphosphaturia, Proteinuria, Aminoaciduria, Renal Fanco... ORPHA:436271
Primary Hyperoxaluria
Hematuria, Aciduria, Calcium oxalate nephrolithiasis, Hypercalciuria, Hyperoxaluria, Calcinosis c... ORPHA:416
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Renal tubular dysfunction, Growth delay, Hyperammonemia, Dystonia, Thrombocytopenia, Chor... ORPHA:289916
Colchicine Poisoning
Myocarditis, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagne... ORPHA:31824
Hyperphenylalaninemia, Bh4-Deficient, B
Decreased urinary biopterin level, Hyperphenylalaninemia, Tremor, Dystonia, Decreased urinary neo... OMIM:233910
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Decreased glomerular filtration rate... OMIM:613090
Arthrogryposis, Distal, Type 2A
Rocker bottom foot, Kyphoscoliosis, Flexion contracture of toe, Wrist flexion contracture, Flexio... OMIM:193700
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Delayed puberty, Kyphoscoliosis, Small pituitary gland, Short stature, Limb joint contracture, Ce... OMIM:612079
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Calcinosis, Hyperlipidemia ORPHA:90154
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures, Short stature, Glycosuria, Stage 5 chronic kidney disease, Renal Fa... OMIM:268315
Pheochromocytoma, Elevated urinary norepinephrine level, Renal artery stenosis, Hypercalcemia, Pr... OMIM:171300
Arthrogryposis, Distal, Type 3
Kyphoscoliosis, Scoliosis, Decreased hip abduction, Cryptorchidism, Camptodactyly of toe, Camptod... OMIM:114300
Anorexia, Neoplasm of the pancreas, Increased circulating gonadotropin level, Cholelithiasis, Adr... ORPHA:97261
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Polyuria, Diabetes insipidus, Hypertonic dehydration, Short stature, Hypernatremia, F... OMIM:304800
Nephrogenic Diabetes Insipidus
Polydipsia, Anorexia, Polyhydramnios, Hydroureter, Hyposthenuria, Enuresis nocturna, Nephrogenic ... ORPHA:223
13Q12.3 Microdeletion Syndrome
Kyphoscoliosis, Hyperactivity, Camptodactyly, Short stature, Failure to thrive, Obesity, Hip dysp... ORPHA:412035
Glutaric Acidemia Type 3
Glutaric aciduria, Sacral dimple, Impulsivity, Failure to thrive, Abnormal circulating enzyme con... ORPHA:35706
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Roussy-Lévy Syndrome
Kyphoscoliosis, Genu valgum, Scoliosis, Urinary bladder sphincter dysfunction, Postural tremor ORPHA:3115
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Polyuria, Hypertonic dehydration, Nephrogenic diabetes insipidus, Short stature, Hype... OMIM:125800
Orthostatic Hypotension 1
Reduced circulating prolactin concentration, Increased blood urea nitrogen, Hypomagnesemia, Noctu... OMIM:223360
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Kyphoscoliosis, Polyhydramnios, Hypothyroidism, Failure to thrive, Short stature, Joi... OMIM:618005
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Short long bone, Hyperlordosis,... ORPHA:457395
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Tremor, Dystonia, Dysphagia, Increased susceptibility to fractures OMIM:304700
Cerebral calcification, Abnormal skeletal muscle morphology, Calcification of muscles, Iridocycli... ORPHA:1560
Chondrodysplasia Punctata 2, X-Linked Dominant
Kyphoscoliosis, Postnatal growth retardation, Polyhydramnios, Rhizomelia, Epiphyseal stippling, S... OMIM:302960
Leukodystrophy, Hypomyelinating, 17
Kyphoscoliosis, Flexion contracture, Growth delay OMIM:618006
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Hyperphosphaturia, Increased intramyocellular lipid droplets, Proteinuria, Weakness o... OMIM:220110
Multiple Endocrine Neoplasia, Type I
Glucagonoma, Adrenocortical adenoma, Pancreatic islet cell adenoma, Pituitary prolactin cell aden... OMIM:131100
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Kyphoscoliosis, Disproportionate short-limb short stature, Delayed ossification of carpal bones, ... OMIM:271510
Increased level of hippuric acid in urine, Cerebral calcification, Hyperphenylalaninemia, Elevate... OMIM:261600
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Depression, Pituitary hypothyroidism, Abnormal circu... ORPHA:99832
Spondyloepimetaphyseal Dysplasia, Di Rocco Type