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Gene: Lhx3 MGI:102673

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
LIM homeobox protein 3
Synonyms:
Lim3,  mLim-3,  P-LIM

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Lhx3 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 Lhx3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Pituitary dwarfism, Hyp... ORPHA:226307
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Pituitary Hormone Deficiency, Combined, 3
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... OMIM:221750

The table below shows human diseases predicted to be associated to Lhx3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... OMIM:262600
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Isolated Growth Hormone Deficiency, Type Ib
Micropenis, Reduced circulating growth hormone concentration, Decreased response to growth hormon... OMIM:612781
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... OMIM:613986
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Decreased circulating luteiniz... OMIM:614837
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... OMIM:618157
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... ORPHA:2235
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... ORPHA:3363
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... ORPHA:453533
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Ovarian Dysgenesis 5
Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ... OMIM:617690
Thyroid Hormone Metabolism, Abnormal, 1
Increased circulating free T4 concentration, Short stature, Elevated circulating thyroid-stimulat... OMIM:609698
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Decreased response t... ORPHA:157954
Pituicytoma
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:251623
Wolfram-Like Syndrome
Diabetes mellitus, Severe postnatal growth retardation, Primary gonadal insufficiency, Delayed pu... ORPHA:411590
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612964
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... OMIM:619755
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... ORPHA:261529
Pituitary Dwarfism With Large Sella Turcica
Growth delay, Pituitary dwarfism, Hypothyroidism, Decreased response to growth hormone stimulatio... OMIM:262710
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... OMIM:613038
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level OMIM:202150
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor... OMIM:614129
Thyroid Hormone Metabolism, Abnormal, 3
Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Incre... OMIM:620198
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Joubert Syndrome 26
Short stature, Decreased response to growth hormone stimulation test, Central hypothyroidism, Mic... OMIM:616784
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Moynahan Syndrome
Short stature, Hypogonadism, Cachexia ORPHA:2574
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Diencephalic Syndrome
Cachexia, Long penis, Hyperhidrosis, Decreased body weight, Abnormality of the hypothalamus-pitui... ORPHA:1672
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Pituitary Stalk Interruption Syndrome
Death in infancy, Hypoplasia of penis, Ectopic posterior pituitary, Failure to thrive, Short stat... ORPHA:95496
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Fem... ORPHA:432
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Pituitary dwarfism, Hyp... ORPHA:226307
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... OMIM:173100
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa... ORPHA:1227
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... ORPHA:163976
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Severe short stature, Hypogonadotropic hypogonadism, Decreased response to g... OMIM:275400
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Sheehan Syndrome
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p... ORPHA:91355
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Short stature, Increased circulating gonadotropin level, Absence ... ORPHA:2410
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Precocious Puberty, Central, 1
Short stature, Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elev... OMIM:176400
Pituitary Hormone Deficiency, Combined, 4
Pituitary dwarfism, Short stature, Severe postnatal growth retardation, Adrenal insufficiency, Im... OMIM:262700
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve... OMIM:300869
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Premature ovarian insufficiency, Hypothyroidism, Short stature OMIM:618625
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233300
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301033
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Short stature, Cryptorchidism, Increased circulating... ORPHA:163971
Endocardial Fibroelastosis
Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism ORPHA:2022
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret... OMIM:616113
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ... OMIM:264300
Müllerian Aplasia And Hyperandrogenism
Short stature, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosteron... ORPHA:247768
Seckel Syndrome 7
Severe short stature, Primary amenorrhea, Central hypothyroidism, Hypoplasia of the uterus, Intra... OMIM:614851
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Shor... ORPHA:813
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ne... ORPHA:2495
49,Xxxyy Syndrome
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... ORPHA:261534
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration OMIM:615999
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Weight loss, Increased serum serotonin, Elevated circulating ... ORPHA:100083
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Hypopl... ORPHA:3464
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98754
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Short stature, Increased circulating gonadotropin ... ORPHA:243
Riboflavin Transporter Deficiency
Cachexia, Hypogonadism, Diabetes insipidus ORPHA:97229
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Renpenning Syndrome
Severe short stature, Diabetes mellitus, Hypospadias, Cachexia, Growth delay, Decreased testicula... ORPHA:3242
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98793
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Congenital adrenal hyperplasia, Am... OMIM:202010
Mcdonough Syndrome
Cryptorchidism, Short stature, Cachexia ORPHA:2471
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Hypogonadism-Cataract Syndrome
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti... OMIM:240950
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177904
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... ORPHA:254516
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177901
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Oocyte/Zygote/Embryo Maturation Arrest 10
Miscarriage, Female infertility OMIM:619176
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Perrault Syndrome 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Short stature, Primary amenorrhea OMIM:233400
Li-Campeau Syndrome
Cryptorchidism, Micropenis, Hypothyroidism, Short stature OMIM:619189
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Obesity, Birth ... OMIM:300148
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... OMIM:300068
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... OMIM:614736
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Prostate cancer, Ovarian neoplasm OMIM:616534
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Maffucci Syndrome
Neoplasm of the adrenal cortex, Short stature, Neoplasm of the parathyroid gland, Pituitary adeno... ORPHA:163634
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Abnormal endocrine physiology, Hyperthyroidism, Primary hypercor... ORPHA:562
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... ORPHA:96179
Ovarian Dysgenesis 4
Short stature, Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimu... OMIM:616185
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:739
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
Potocki-Shaffer Syndrome
Micropenis, Hypothyroidism, Delayed puberty ORPHA:52022
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... ORPHA:90674
49,Xyyyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:99330
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Hypothyroidism, Short stature OMIM:275120
Pseudohypoparathyroidism, Type Ic
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyr... OMIM:612462
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Satoyoshi Syndrome
Short stature, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,... ORPHA:3130
Neurodevelopmental Disorder With Language Delay And Seizures
Growth delay, Cryptorchidism, Hypothyroidism, Hypothalamic hamartoma OMIM:619908
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Cryptorchidism, Neonatal death, Decreased circulating T4 concentration, Intraut... OMIM:608104
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Hypospadias, Dysmenorrhea, Small for gestational age, Postnatal growth retardation... ORPHA:397590
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Hydatidiform Mole
Hyperthyroidism, Miscarriage, Menometrorrhagia, Enlarged uterus ORPHA:99927
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Hypothyroidism, Uterus didelphys, Short stature ORPHA:2491
Dystonia 28
Precocious puberty, Hypothyroidism, Short stature ORPHA:589618
Pituitary Hormone Deficiency, Combined, 3
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... OMIM:221750
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... OMIM:618187
Fetal Iodine Syndrome
Hypothyroidism ORPHA:1910
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Cryptorchidism, Hypothyroidism OMIM:613970
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Central Precocious Puberty In Male
Abnormality of the testis size, Pituitary microadenoma, Hypothalamic hamartoma, Abnormal response... ORPHA:649929
Orthostatic Hypotension 1
Retrograde ejaculation, Reduced circulating prolactin concentration OMIM:223360
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... OMIM:612702
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Pseudohypoparathyroidism, Type Ia
Short stature, Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level,... OMIM:103580
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... ORPHA:347
Congenital Atransferrinemia
Hypothyroidism ORPHA:1195
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Galloway-Mowat Syndrome 6
Short stature, Decreased response to growth hormone stimulation test, Growth delay, Decreased bod... OMIM:618347
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Midshaft hypospadias, Anterior hypopituitarism, Short stature ORPHA:2863
4H Leukodystrophy
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to growth ho... ORPHA:289494
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... OMIM:613239
Hypothyroidism, Congenital, Nongoitrous, 4
Decreased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypothyroidi... OMIM:275100
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s... ORPHA:363528
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism OMIM:619647
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Amed Syndrome, Digenic
Hypoplasia of the uterus, Failure to thrive, Short stature, Adrenal hypoplasia OMIM:619151
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss ORPHA:298
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Hypogonadotropic hypogonadism, Short stature, Central adrenal insufficiency, Small pituitary glan... OMIM:612079
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Short stature, Cryptorchidism, Growth delay, Delayed puberty, Intraute... OMIM:616817
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Postnatal... OMIM:614732
Bonnemann-Meinecke-Reich Syndrome
Short stature, Decreased response to growth hormone stimulation test ORPHA:1261
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... ORPHA:67045
Pituitary Gigantism
Premature pubarche, Elevated circulating growth hormone concentration, Hyperhidrosis, Increased c... ORPHA:99725
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
Thyroid Dyshormonogenesis 5
Growth delay, Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Growth delay, Hypothyroidism, Goiter OMIM:274800
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Secondary amenorrhea, Goiter OMIM:617175
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:403
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, ... OMIM:620211
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... ORPHA:672
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Weight loss, Infertility, Erect... ORPHA:465508
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... OMIM:219080
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... ORPHA:95715
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Growth delay, Intraut... ORPHA:217346
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Increased body weight, Clitoral hypoplasi... ORPHA:398069
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Va... OMIM:615109
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Growth delay, Hypoplasia of penis, Decreased response to growth hormone stimulation test, Congeni... OMIM:601427
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... OMIM:614450
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615108
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... OMIM:615954
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Hypospadias, Cryptorchidism, Obesity, Congenital hypothyroidism, Mild short st... OMIM:614613
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Short stature, Decreased response to gr... OMIM:146510
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Short stature, Cachexia, Obesity, Hyperhidrosis, Hypogonadism, Decreased tes... ORPHA:85293
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Mild postnatal growth retardation, Short stature, Cryptorchidism, Elev... OMIM:101800
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity, Infertility, Oligomenorrhea OMIM:604931
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Short stature OMIM:601076
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Short stat... ORPHA:280679
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Lig4 Syndrome
Small for gestational age, Cryptorchidism, Type II diabetes mellitus, Micropenis, Failure to thri... OMIM:606593
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Premature ovarian insufficiency, Female hypogonadism, Cholelithiasis, Decreas... OMIM:240300
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Short stature, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, G... OMIM:615866
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Cachexia, Testicular neoplasm, Weight loss, Ovarian neoplasm ORPHA:83469
Gne Myopathy
Hypothyroidism ORPHA:602
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Failure to thrive, Hypospadias, Sho... ORPHA:209905
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp... OMIM:615830
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Septopreoptic Holoprosencephaly
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus ORPHA:280195
Allan-Herndon-Dudley Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism OMIM:300523
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypogonadism, Infertility, Oligomenorrhea, Type II diabetes mellitus, Type I diabetes mellitus, D... ORPHA:412057
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... ORPHA:226313
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Aarskog-Scott Syndrome
Short stature, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorc... OMIM:305400
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus, Cachexia ORPHA:2047
Maternal Uniparental Disomy Of Chromosome 9
Intrauterine growth retardation, Failure to thrive, Congenital hypothyroidism ORPHA:96183
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Cog2-Cdg
Small pituitary gland ORPHA:435934
Alexander Disease Type I
Failure to thrive, Abnormal thalamic MRI signal intensity, Cachexia ORPHA:363717
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Erythrokeratodermia Variabilis
Diabetes mellitus, Abnormal testis morphology, Short stature, Weight loss ORPHA:317
Giant Axonal Neuropathy
Abnormal pituitary gland morphology ORPHA:643
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Short stature, Precocious puberty, Insulin-resistant d... ORPHA:769
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Myoectodermal Gonadal Dysgenesis Syndrome
Small for gestational age, Short stature, Elevated circulating luteinizing hormone level, Hypopla... OMIM:618419
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Short stature, Central hypothyroidism, ... OMIM:301035
Reni Syndrome
Cryptorchidism, Hypogonadism, Adrenal insufficiency, Micropenis, Hypothyroidism OMIM:617575
Athyreosis
Thyroid agenesis, Growth delay, Hypothyroidism, Short stature ORPHA:95713
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia OMIM:618160
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Small for gestational age, Increase... OMIM:609152
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Weight los... ORPHA:2905
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Multifocal Atrial Tachycardia
Cryptorchidism, Hypothyroidism ORPHA:3282
Bangstad Syndrome
Severe short stature, Small for gestational age, Insulin-resistant diabetes mellitus, Primary gon... OMIM:210740
Isolated Atp Synthase Deficiency
Hypothyroidism, Hypogonadism, Short stature ORPHA:254913
Pallister-Hall-Like Syndrome
Death in infancy, Short stature, Hypothalamic hamartoma, Micropenis, Anterior hypopituitarism OMIM:241800
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Hypoplasia of penis, Short stature, Cryptorchidism, Hypothyroidism ORPHA:85321
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Growth delay, Azoospermia, Hypogonadism, Adrenal insufficiency, Abnormality of the hypothalamus-p... ORPHA:300298
Ring Chromosome 12 Syndrome
Small for gestational age, Cryptorchidism, Glandular hypospadias, Growth delay, Uterine leiomyoma... ORPHA:1439
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Short stature, Anterior pituitary hypoplasia, Crypt... OMIM:615849
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Growth delay, Hypothyroidism, Testicular atrophy OMIM:222300
Intellectual Developmental Disorder, Autosomal Dominant 52
Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Overweight, Hypothyroidism OMIM:617796
Satoyoshi Syndrome
Hypoplasia of the uterus, Short stature, Amenorrhea OMIM:600705
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Hawkinsinuria
Failure to thrive, Hypothyroidism ORPHA:2118
Temple Syndrome
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert... OMIM:616222
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Microform Holoprosencephaly
Hypoplasia of penis, Short stature, Maternal diabetes, Panhypopituitarism, Ambiguous genitalia, I... ORPHA:280200
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... ORPHA:90673
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Boomerang Dysplasia
Cryptorchidism, Severe short-limb dwarfism, Decreased response to growth hormone stimulation test ORPHA:1263
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Decreased response to growth hormone stimulation test, Overweight, Micropenis, Dec... ORPHA:457240
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... ORPHA:54595
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Short stature, Precocious puberty, Insulin-resistant diabetes mellitus... OMIM:262190
Thyroid Dyshormonogenesis 1
Growth delay, Hypothyroidism, Goiter OMIM:274400
Septooptic Dysplasia
Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:182230
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
19P13.12 Microdeletion Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Obesity, Intrauterine growth retardation, Hypoth... ORPHA:254346
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypothyroidism, Short stature OMIM:619013
Lig4 Syndrome
Hypoplasia of penis, Cryptorchidism, Growth delay, Type II diabetes mellitus, Hypothyroidism ORPHA:99812
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter ORPHA:319487
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Boucher-Neuhauser Syndrome
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism OMIM:215470
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia ORPHA:2576
Hypotonia-Cystinuria Syndrome
Postnatal growth retardation, Failure to thrive, Hypergonadotropic hypogonadism, Decreased respon... OMIM:606407
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... ORPHA:251274
Allan-Herndon-Dudley Syndrome
Small for gestational age, Abnormality of thyroid physiology, Failure to thrive in infancy, Short... ORPHA:59
Autosomal Dominant Optic Atrophy, Classic Form
Hypothyroidism, Diabetes mellitus, Hypogonadism ORPHA:98673
Premature Ovarian Failure 2A
Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Elevated circula... OMIM:300511
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert... ORPHA:96184
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Elevated circulating f... OMIM:618014
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... ORPHA:97289
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Increased circulating free T3, Thyrotoxicosis with diffuse goiter,... ORPHA:525731
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... OMIM:609757
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
15Q24 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Sh... ORPHA:94065
Intellectual Developmental Disorder, Autosomal Dominant 67
Hypothyroidism OMIM:619927
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Hyperhidrosis, Weight loss, Pheochromocytoma, Elevated circulating c... ORPHA:1332
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn... ORPHA:1359
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Hypothyroidism, Short stature ORPHA:2349
Trichothiodystrophy 5, Nonphotosensitive
Short stature, Intrauterine growth retardation, Micropenis, Panhypopituitarism, Decreased testicu... OMIM:300953
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Short stature, Secondary amenorrhea, Premature pubarche OMIM:612847
Congenital Macroglossia
Hypothyroidism ORPHA:2430
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Small pituitary gland,... OMIM:619476
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Obesity, ... ORPHA:254531
Webb-Dattani Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:615926
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Papillary thyroid carcinoma, Goiter ORPHA:97290
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Donohue Syndrome
Precocious puberty, Postnatal growth retardation, Long penis, Hyperinsulinemia, Ovarian cyst, Pan... OMIM:246200
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Hypothyroidism, Hypospadias, Intrauterine growth retardation ORPHA:1923
Wolman Disease
Growth delay, Adrenal insufficiency, Adrenal calcification, Cachexia ORPHA:75233
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Severe short stature, Hypospadias, Decreased response to growth hormone stimulation test, Bilater... OMIM:618336
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Failure to thrive, Diabetes mellitus, Mild postnatal growth retardation, Aplasia/Hypoplasia of th... ORPHA:456312
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Intrauterine growth retardation, Postnatal growth retardation, Obesity ORPHA:254525
Silver-Russell Syndrome 1
Small for gestational age, Hypospadias, Decreased response to growth hormone stimulation test, Te... OMIM:180860
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Oculoskeletodental Syndrome
Small for gestational age, Cryptorchidism, Hypothyroidism, Short stature OMIM:618440
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... OMIM:176270
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Aredyld Syndrome
Short stature, Cachexia, Type II diabetes mellitus, Type I diabetes mellitus, Intrauterine growth... ORPHA:1133
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Congenital Muscular Dystrophy Due To Lmna Mutation
Death in infancy, Cachexia ORPHA:157973
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Insulin Autoimmune Syndrome
Insulin-resistant diabetes mellitus, Weight loss, Hyperinsulinemic hypoglycemia ORPHA:411593
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea OMIM:616946
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Dilated Cardiomyopathy With Ataxia
Hypoplasia of penis, Bilateral cryptorchidism, Perineal hypospadias, Growth delay, Intrauterine g... ORPHA:66634
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Hypothyroidism, Short stature, Delayed puberty ORPHA:2994
14Q11.2 Microduplication Syndrome
Hypothyroidism, Obesity ORPHA:261229
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circu... ORPHA:3044
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Overweight, Failure to thrive, Diabetes mellitus, Hypothyroidism ORPHA:391372
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hyperthyroidism, Goiter OMIM:188580
Monosomy 18Q
Short stature, Bilateral cryptorchidism, Hypothyroidism, Growth delay, Micropenis, Failure to thr... ORPHA:1600
Potocki-Lupski Syndrome
Small for gestational age, Failure to thrive, Hypothyroidism, Short stature OMIM:610883
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Hyperinsuline... ORPHA:528
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Severe short stature, Thyroid agenesis, Cryptorchidism, Growth delay, Ectopic... ORPHA:3047
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Small for gestational age, Proportionate short stature, Severe postnatal growt... ORPHA:391408
Kearns-Sayre Syndrome
Anterior hypopituitarism ORPHA:480
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... ORPHA:199244
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Thyroid Lymphoma
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Death in infancy, Short stature, Decreased response to growth hormone stimulation test, Hypothyro... OMIM:618922
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Smith-Magenis Syndrome
Failure to thrive in infancy, Short stature, Precocious puberty, Obesity, Delayed puberty, Hypoth... ORPHA:819
Mpi-Cdg
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Glutaric Aciduria Iii
Failure to thrive, Hyperthyroidism, Goiter OMIM:231690
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
African Trypanosomiasis
Miscarriage, Abnormality of the menstrual cycle, Abnormality of the endocrine system, Abnormality... ORPHA:3385
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Short stature, Cryptorchidism, Truncal obesity, Disproportionate short-limb sh... OMIM:616541
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Late-Onset Familial Hypoaldosteronism
Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le... ORPHA:556037
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Cryptorchidism, Growth delay, Gonadal dysgenesis, Hypogonadism ORPHA:3306
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Microsporidiosis
Cachexia, Abnormality of the parathyroid gland, Abnormal endometrium morphology, Thyroiditis, Wei... ORPHA:2552
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Leukodystrophy, Hypomyelinating, 24
Severe short stature, Hypothyroidism OMIM:619851
Early-Onset Familial Hypoaldosteronism
Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le... ORPHA:556030
Anaplastic Thyroid Carcinoma
Nodular goiter, Weight loss, Anaplastic thyroid carcinoma, Goiter ORPHA:142
Whipple Disease
Cachexia, Hypothyroidism, Erectile dysfunction ORPHA:3452
Martin-Probst Syndrome
Bifid scrotum, Short stature, Cryptorchidism, Chordee, Hypoplastic nipples, Micropenis, Hypothyro... OMIM:300519
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Short stature, Hypohidrosis ORPHA:1882
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:369929
Rhyns Syndrome
Short stature, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, A... OMIM:602152
Christianson Syndrome
Death in early adulthood, Cachexia ORPHA:85278
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth retardation, Apla... OMIM:266810
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Short stature, Cachexia, Thyroid carcinoma, Hashimoto thyroiditis... ORPHA:109
Chromosome 1P35 Deletion Syndrome
Cryptorchidism, Intrauterine growth retardation, Short stature, Congenital hypothyroidism OMIM:617930
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Cachexia, Weight loss ORPHA:1979
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insufficiency, Decrea... ORPHA:199299
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno... ORPHA:90790
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Short stature, Decreased response to growth hormone stimulation test OMIM:615286
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... ORPHA:424
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism OMIM:241850
Pendred Syndrome
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter ORPHA:705
Solitary Fibrous Tumor
Vaginal neoplasm, Weight loss, Prostate cancer, Hypoinsulinemia, Abnormal prostate morphology, Ut... ORPHA:2126
Ohdo Syndrome, Sbbys Variant
Cryptorchidism, Hypospadias, Hypothyroidism OMIM:603736
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Hypohidrosis, Hypothyroidism ORPHA:1812
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ... OMIM:608747
Congenital Disorder Of Glycosylation, Type Ii
Hypothyroidism, Short stature, Decreased body weight OMIM:607906
Triple A Syndrome
Anterior hypopituitarism, Adrenal insufficiency, Short stature ORPHA:869
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, D... OMIM:618183
Fanconi Anemia, Complementation Group I
Short stature, Decreased response to growth hormone stimulation test, Decreased body weight, Intr... OMIM:609053
Deeah Syndrome
Death in infancy, Short stature, Decreased response to growth hormone stimulation test, Anterior ... OMIM:619004
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
Beta-Thalassemia Intermedia
Hypoparathyroidism, Diabetes mellitus, Hypogonadism, Adrenal insufficiency, Cholelithiasis, Hypot... ORPHA:231222
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Intrauterine growth retardation, Failure to thrive in infancy, Cachexia OMIM:616801
Trisomy 18
Short stature, Cachexia, Cryptorchidism, Growth delay, Intrauterine growth retardation, Abnormal ... ORPHA:3380
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... OMIM:300942
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... OMIM:610978
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Bone Marrow Failure Syndrome 5
Hypogonadism, Growth delay, Testicular atrophy, Short stature OMIM:618165
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism ORPHA:88643
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Microphthalmia, Syndromic 9
Severe short stature, Short stature, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus,... OMIM:601186
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Anterior hypopituitarism, Hypohidrosis ORPHA:181
Blepharochalasis And Double Lip
Goiter OMIM:109900
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Posterior pituitary hypoplasia, Abnormality of the anterior pituitary ORPHA:75389
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Developmental And Epileptic Encephalopathy 90
Hypothyroidism OMIM:301058
Hypertriglyceridemia 1
Hypopituitarism OMIM:145750
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Diabetes mellitus, Pancreatic fibrosis, Short stature, Postnatal growth retardation, Delayed pube... OMIM:616263
Rhyns Syndrome
Hypopituitarism ORPHA:140976
Tetrasomy 12P
Short stature, Cachexia, Hypohidrosis ORPHA:884
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism ORPHA:663
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism, Obesity, Short stature OMIM:600430
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Severe short stature, Failure to thrive, Decreased response to growth hormone stimulation test OMIM:245590
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Short stature, Decreased response to growth hormone stimulation test, Growth delay, Delayed puber... OMIM:619234
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
16P12.1P12.3 Triplication Syndrome
Bilateral cryptorchidism, Intrauterine growth retardation, Failure to thrive, Decreased response ... ORPHA:485405
Koolen-De Vries Syndrome
Cryptorchidism, Hypospadias, Hypothyroidism, Short stature ORPHA:96169
Atelis Syndrome 1
Hypothyroidism OMIM:620184
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Intrauterine growth retardation, Short stature, Vaginal atresia OMIM:617914
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Exocrine pancreatic insuffi... OMIM:137920
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple, Congenital hypothyroidism ORPHA:2519
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism ORPHA:1226
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Fragile X Tremor/Ataxia Syndrome
Impotence, Premature ovarian insufficiency, Hypothyroidism OMIM:300623
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:619243
Congenital Disorder Of Glycosylation, Type Ia
Death in infancy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Death in child... OMIM:212065
Mosaic Variegated Aneuploidy Syndrome 2
Small for gestational age, Rhizomelia, Decreased response to growth hormone stimulation test, Sho... OMIM:614114
Tbck-Related Intellectual Disability Syndrome
Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchidism, Central a... ORPHA:488632
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Hypospadias, Short stature, Bilateral cryptorchidism, Cryptorchidism, Central hypothyroidism, Gro... OMIM:300998
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... ORPHA:276399
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... ORPHA:90301
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Weight loss, Intrauterine growth retardation, Micropenis, Failure to thrive, ... OMIM:619487
Pulmonary Blastoma
Weight loss ORPHA:64741
Myasthenic Syndrome, Congenital, 22
Short stature, Decreased response to growth hormone stimulation test OMIM:616224
Ddost-Cdg
Failure to thrive, Short stature, Primary hypothyroidism ORPHA:300536
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... OMIM:146255
Cystinosis
Short stature, Nephrogenic diabetes insipidus, Delayed puberty, Type I diabetes mellitus, Failure... ORPHA:213
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Hypospadias, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Papillar... ORPHA:93111
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Premature o... ORPHA:85138
Mogs-Cdg
Hydrocele testis, Hypothyroidism, External genital hypoplasia, Inappropriate antidiuretic hormone... ORPHA:79330
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypospadias, Decreased response to growth hormone stimulation test, Premature thelarche, Small fo... ORPHA:268261
Meckel Syndrome 12
Hypoplasia of the uterus, Intrauterine growth retardation, Vaginal atresia OMIM:616258
B4Galt1-Cdg
Small for gestational age, Hypothyroidism ORPHA:79332
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Short stature, Follicular thyroid carcinoma, En... ORPHA:201
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty, Failure to thrive ORPHA:293181
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Metrorrhagia, Precocious puberty, Ovarian neoplasm, Weight loss, Neopla... ORPHA:370348
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Small for gestational age, Growth delay, Death in childhood, Failure to thrive, Hypothyroidism OMIM:619147
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Intrauterine growth retardation, Short stature, Cachexia ORPHA:371364
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Growth delay, Adrenal insuff... ORPHA:231226
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ... ORPHA:249
Melas
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Short stature, Recurrent pa... ORPHA:550
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Thyroid Hypoplasia
Growth delay, Hypothyroidism, Thyroid hypoplasia, Short stature ORPHA:95720
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Pr... ORPHA:96182
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypothyroidism, Short stature OMIM:619750
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Cachexia OMIM:618186
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Postnatal growth retardation, ... OMIM:620305
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia OMIM:201400
Nabais Sa-De Vries Syndrome, Type 2
Hypothyroidism, Failure to thrive in infancy OMIM:618829
Ritscher-Schinzel Syndrome 1
Intrauterine growth retardation, Hypospadias, Decreased response to growth hormone stimulation te... OMIM:220210
Acetazolamide-Responsive Myotonia
Hypothyroidism ORPHA:99736
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypothyroidism, Short stature, Hypohidrosis ORPHA:1563
Anemia, Congenital Dyserythropoietic, Type Iv
Hypospadias, Short stature, Weight loss, Micropenis, Hypothyroidism OMIM:613673
Leprechaunism
Enlarged ovaries, Overgrowth of external genitalia, Postnatal growth retardation, Labial hypertro... ORPHA:508
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty ORPHA:457260
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Short stature, Female infertility, Mitochondrial hypertrophy, Fa... OMIM:619518
Rothmund-Thomson Syndrome Type 1
Premature ovarian insufficiency, Small for gestational age, Short stature, Cryptorchidism, Growth... ORPHA:221008
Monosomy 18P
Hypothyroidism, Short stature ORPHA:1598
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism ORPHA:90065
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism, Short stature OMIM:617763
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypothyroidism, Premature thelarche, Premature pubarche OMIM:616878
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Micropenis, Pituitary hypothyroidism, Anterior pituitary hypoplasia OMIM:619983
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia ORPHA:1438
Down Syndrome
Type II diabetes mellitus, Hypothyroidism, Decreased fertility, Obesity ORPHA:870
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Thyroid Hormone Resistance, Selective Pituitary
Hyperthyroidism, Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulatin... OMIM:145650
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Decreased body weight OMIM:300958
Intrahepatic Cholestasis Of Pregnancy
Small for gestational age, Abnormal pineal melatonin secretion, Hypothyroidism ORPHA:69665
Lynch Syndrome
Neoplasm of the pancreas, Death in infancy, Pancreatic adenocarcinoma, Death in early adulthood, ... ORPHA:144
Juberg-Hayward Syndrome
Short stature, Decreased response to growth hormone stimulation test OMIM:216100
Autoinflammation, Immune Dysregulation, And Eosinophilia
Failure to thrive, Hypothyroidism, Short stature OMIM:618999
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, Female infertility,... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, Female infertility,... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, Female infertility,... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, Female infertility,... ORPHA:881
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Severe short stature, Cachexia, Death in adolescence, Failure to... OMIM:610965
Nephrotic Syndrome, Type 1
Small for gestational age, Growth delay, Hypothyroidism OMIM:256300
Acromelic Frontonasal Dysplasia
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia ORPHA:1827
Optic Pathway Glioma
Precocious puberty, Growth delay ORPHA:2086
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Failure to thrive in infancy, Growth delay, Adrenal insuff... ORPHA:231214
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hyperthyroidism, Failure to thrive in infancy, Cachexia, Abnormality of the endocrine system, Thy... ORPHA:37042
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Short stature, Central hypothyroidism, Growth delay... ORPHA:1667
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism OMIM:603373
Peters Plus Syndrome
Hypospadias, Short stature, Rhizomelia, Postnatal growth retardation, Cryptorchidism, Congenital ... ORPHA:709
Schwartz-Jampel Syndrome
Death in infancy, Short stature, Cachexia, Decreased body weight, Testicular torsion, Decreased t... ORPHA:800
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cryptorchidism, Failure to thrive, Hypothyroidism, Intrauterine growth retardation ORPHA:453499
Noonan Syndrome 12
Decreased response to growth hormone stimulation test OMIM:618624
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Cachexia ORPHA:1933
Isolated Biliary Atresia
Small for gestational age, Atretic gallbladder, Bile duct proliferation, Severe failure to thrive... ORPHA:30391
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... ORPHA:2237
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Short stature, Decreased response to growth hormone stimulation test, Epididymitis, Delayed puber... OMIM:307200
Immunodeficiency 102
Hypothyroidism OMIM:301082
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... ORPHA:97287
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... OMIM:171400
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Short stature, Failure to thrive in infancy, Type I diabetes mellitus, Hypothyroidism, Hashimoto ... OMIM:613385
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Alexander Disease
Diabetes mellitus, Precocious puberty, Hyperhidrosis, Failure to thrive, Hypothyroidism ORPHA:58
Norrie Disease
Diabetes mellitus, Cachexia, Cryptorchidism, Uterine rupture, Erectile dysfunction, Delayed puber... ORPHA:649
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Short stature, Irregular menstruation, Thyroiditis, Polycystic ovaries, Growth delay, Menorrhagia... ORPHA:79259
Stiff Person Spectrum Disorder
Diabetes mellitus, Hypothyroidism, Hyperhidrosis ORPHA:3198
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Short stature, Delayed puberty, Type I diabetes mellitus, Hypothyroidism, Exocrine pancreatic ins... OMIM:615952
19P13.3 Microduplication Syndrome
Precocious puberty, Intrauterine growth retardation, Growth delay, Unilateral cryptorchidism ORPHA:447980
Lymphatic Malformation 6
Hydrocele testis, Hypothyroidism, Short stature OMIM:616843
Slc35A2-Cdg
Failure to thrive in infancy, Short stature, Precocious puberty, Elevated circulating thyroid-sti... ORPHA:356961
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Short stature, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hy... OMIM:309801
Ollier Disease
Precocious puberty ORPHA:296
Fanconi Anemia, Complementation Group F
Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Microphallu... OMIM:603467
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Omenn Syndrome
Failure to thrive, Hypothyroidism, Thyroiditis ORPHA:39041
Camurati-Engelmann Disease
Slender build, Hypogonadism, Cachexia, Delayed puberty ORPHA:1328
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... ORPHA:143
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:314769
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Slender ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Slender ... ORPHA:363958
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Short stature, Decreased response to growth hormone stimulation test ORPHA:436174
Isolated Exencephaly
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes ORPHA:563612
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Postnatal growth retardation, Growth delay, Intrauterine growth retardation, Conge... ORPHA:93325
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Abnormal circulating l... ORPHA:2298
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty OMIM:619877
Meier-Gorlin Syndrome 6
Severe short stature, Small for gestational age, Decreased response to growth hormone stimulation... OMIM:616835
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Jung Syndrome
Hypothyroidism ORPHA:2321
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:963
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... ORPHA:440437
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Short stature, Primary amenorrhea, Growth delay, Increased circulating prolactin... OMIM:617675
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Cryptorchidism, Micropenis, Labial hypoplasia OMIM:620073
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Tuberculosis
Weight loss ORPHA:3389
Adiposis Dolorosa
Xerostomia, Hypothyroidism, Obesity ORPHA:36397
Aa Amyloidosis
Hypothyroidism, Adrenal insufficiency ORPHA:85445
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Dyskeratosis Congenita, Autosomal Recessive 2
Growth delay, Testicular atrophy OMIM:613987
Spondyloenchondrodysplasia
Hypothyroidism, Decreased response to growth hormone stimulation test, Short stature, Disproporti... ORPHA:1855
Distal Xq28 Microduplication Syndrome
Hypothyroidism, Short stature ORPHA:293939
Hypercalcemia, Infantile, 1
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Cervical neoplasm, Thyroid C cell hyperplasia, Primary hyperparat... ORPHA:653
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Woolly Hair Nevus
Precocious puberty ORPHA:79414
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Cockayne Syndrome
Anhidrosis, Diabetes mellitus, Severe short stature, Cachexia, Postnatal growth retardation, Cryp... ORPHA:191
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Growth delay, Hypopituitarism, Failure to thrive, Delayed puberty OMIM:600462
Gabriele-De Vries Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... ORPHA:506358
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology, Primary hypothyroidism OMIM:225050
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, Diabetes mellitus, Hypothyroidism ORPHA:263297
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:97282
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Growth delay, Hypopituitarism, Failure to thrive, Hypohidrosis ORPHA:98813
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty OMIM:619356
Ppoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... ORPHA:97278
Pseudohypoparathyroidism Type 1B
Elevated circulating parathyroid hormone level, Decreased response to growth hormone stimulation ... ORPHA:94089
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Hyperthyroidism, Short stature, Primary amenorrhea, Growth delay, Increased circulating prolactin... ORPHA:502423
Mosaic Variegated Aneuploidy Syndrome
Short stature, Vaginal neoplasm, Growth delay, Ambiguous genitalia, Intrauterine growth retardati... ORPHA:1052
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Short stature, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Abnormali... ORPHA:438213
Tuberous Sclerosis 1
Precocious puberty, Adenoma sebaceum, Hypothyroidism OMIM:191100
Pelizaeus-Merzbacher Disease
Short stature, Failure to thrive in infancy, Cachexia ORPHA:702
Secondary Short Bowel Syndrome
Weight loss, Growth delay, Central hypothyroidism, Primary hypothyroidism, Failure to thrive ORPHA:95427
Timothy Syndrome
Hypothyroidism OMIM:601005
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Mpdu1-Cdg
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation test ORPHA:79323
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Failure to thrive, Hypothyroidism OMIM:304790
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... ORPHA:85450
Hereditary Central Diabetes Insipidus
Growth delay, Diabetes insipidus, Weight loss ORPHA:30925
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Growth delay, Azoospermia, Delayed puberty, Cholelithiasis ORPHA:2072
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Thyroid Ectopia
Short stature, Abnormality of the thyroid gland, Growth delay, Ectopic thyroid, Hypothyroidism ORPHA:95712
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, Abnorm... ORPHA:2166
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Pheochromocytoma, Elevated circulating calcitonin concentration, Pa... OMIM:162300
Grfoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... ORPHA:97261
Subcorneal Pustular Dermatosis
Hyperthyroidism, Hypothyroidism ORPHA:48377
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensitive primary hyp... ORPHA:171876
Acquired Hypertrichosis Lanuginosa
Weight loss, Ovarian neoplasm ORPHA:2221
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Adrenocortic... ORPHA:1435
Fg Syndrome Type 1
Short stature, Hypospadias, Cryptorchidism, Small pituitary gland, Slender build ORPHA:93932
Aicardi-Goutieres Syndrome 1
Short stature, Hypothyroidism, Diabetes insipidus OMIM:225750
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Cryptorchidism, Severe postnatal growth retardation, Intrauterine growth retardation, Hypothyroid... OMIM:620005
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97283
Immunodeficiency, Common Variable, 8, With Autoimmunity
Thyroiditis, Growth delay, Type I diabetes mellitus, Failure to thrive, Hypothyroidism OMIM:614700
Idiopathic Achalasia
Weight loss ORPHA:930
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Short stature, Weight loss ORPHA:388
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Type I diabetes mellitus, Hypothyroidism, Thyroiditis, Failure to thrive in infancy OMIM:606367
Fucosidosis
Failure to thrive, Hypothyroidism, Hyperhidrosis ORPHA:349
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Autoimmune Polyendocrinopathy Type 3
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insufficiency, Xer... ORPHA:227982
Celiac Disease, Susceptibility To, 1
Short stature, Postnatal growth retardation, Thyroiditis, Weight loss, Infertility, Delayed puber... OMIM:212750
Chromosome 18Q Deletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Failure to thrive in infancy,... OMIM:601808
Cohen Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... OMIM:216550
Autoimmune Polyendocrinopathy Type 4
Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Xerostomia, Anterior pituitary dys... ORPHA:227990
Hallermann-Streiff Syndrome
Cryptorchidism, Hypothyroidism, Proportionate short stature ORPHA:2108
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Short stature, Congenital hypothyroidism, Hydrocele testis,... OMIM:620186
Digeorge Syndrome
Parathyroid agenesis, Short stature, Decreased circulating parathyroid hormone level, Obesity, Pa... OMIM:188400
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Diabetes mellitus, Hyperthyroidism, Hypothyroidism ORPHA:449291
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology ORPHA:314621
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Intrauterine growth retardation, Failure to thrive, Hypothyroidism, Short stature OMIM:618005
Acrocardiofacial Syndrome
Death in infancy, Hypoplasia of penis, Hyperthyroidism, Hypospadias, Cryptorchidism, Intrauterine... ORPHA:2008
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Microphthalmia, Syndromic 6
Failure to thrive, Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Anteri... OMIM:607932
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Short stature ORPHA:2479
3-Methylglutaconic Aciduria Type 7
Growth delay, Hypothyroidism ORPHA:445038
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of the thyroid gland, Short stature, Cachexia ORPHA:1969
Combined Oxidative Phosphorylation Deficiency 33
Intrauterine growth retardation, Hypothyroidism OMIM:617713
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Xerostomia, Cachexia OMIM:175500
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypospadias, Small for gestational age, Urethrovaginal fistula, Septate vagina... OMIM:243800
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Hypothyroidism, Intrauterine growth retardation ORPHA:1556
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Hyperthyroidism, Failure to thrive, Hypothyroidism, Goiter ORPHA:254892
Tuberous Sclerosis 2
Precocious puberty, Adenoma sebaceum, Hypothyroidism OMIM:613254
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Weight loss ORPHA:54251
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Neoplasm of the t... ORPHA:744
8P23.1 Microdeletion Syndrome
Hypospadias, Short stature, Cryptorchidism, Obesity, Weight loss, Growth delay, Intrauterine grow... ORPHA:251071
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Endometrial carcinoma, Hypothyroidism ORPHA:457212
Cenani-Lenz Syndrome
Hypothyroidism ORPHA:3258
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Short stature, Cryptorchidism, Obesity, Hypopla... ORPHA:567
Reticular Dysgenesis
Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss ORPHA:33355
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Decreased female libido, Adrenal hypoplasia, Primary adrena... ORPHA:95409
Solitary Median Maxillary Central Incisor
Anterior hypopituitarism, Short stature, Decreased response to growth hormone stimulation test OMIM:147250
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Cervix cancer, Multinodular goiter OMIM:620189
Holoprosencephaly 9
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:610829
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Failure to thrive, Short ... ORPHA:857
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Type I diabetes mellitus, Hypothyroidism, Thyroiditis, Failure to thrive in infancy ORPHA:228426
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Growth delay, Hypothyroidism OMIM:226300
Bone Marrow Failure Syndrome 6
Hypothyroidism OMIM:618849
Hartsfield Syndrome
Hypospadias, Cryptorchidism, Gonadotropin deficiency, Growth delay, Micropenis, Diabetes insipidus OMIM:615465
Histiocytosis-Lymphadenopathy Plus Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Short stat... OMIM:602782
Galloway-Mowat Syndrome 10
Congenital hypothyroidism OMIM:619609
Juvenile Polyposis Of Infancy
Cachexia, Short stature, Freckled genitalia ORPHA:79076
X-Linked Creatine Transporter Deficiency
Short stature, Cachexia ORPHA:52503
Basilicata-Akhtar Syndrome
Precocious puberty OMIM:301032
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Pearson Syndrome
Hypoparathyroidism, Diabetes mellitus, Pancreatic fibrosis, Decreased response to growth hormone ... ORPHA:699
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia... ORPHA:861
White-Kernohan Syndrome
Hypothyroidism, Rectovaginal fistula, Obesity OMIM:619426
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Short stature, Cryptorchidism, Obesity, Hypogonadism, Abnormali... ORPHA:1606
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... ORPHA:733
Cardiofaciocutaneous Syndrome 4
Short stature, Decreased response to growth hormone stimulation test, Hyperhidrosis OMIM:615280
Primary Myelofibrosis
Cachexia ORPHA:824
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Cachexia, Primary adrenal insufficiency, Weight loss, Failure to thrive ORPHA:275761
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Diabetes mellitus, Pancreatic cysts, Elevated circulating thyroid-stimulating hormone concentrati... OMIM:610199
Acute Monoblastic/Monocytic Leukemia
Weight loss, Central hypothyroidism ORPHA:514
Gomez-Lopez-Hernandez Syndrome
Short stature, Decreased response to growth hormone stimulation test OMIM:601853
Rett Syndrome
Short stature, Cachexia OMIM:312750
Central Diabetes Insipidus
Failure to thrive, Diabetes insipidus, Weight loss ORPHA:178029
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Failure to thrive in infancy, Short stature, Hypohidrosis, W... OMIM:219800
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Microphthalmia, Syndromic 2
Hypospadias, Short stature, Septate vagina, Cryptorchidism, Adrenal insufficiency, Decreased body... OMIM:300166
Isaacs Syndrome
Weight loss, Hyperhidrosis ORPHA:84142
Attrv30M Amyloidosis
Impotence, Weight loss ORPHA:85447
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Short stature, Obesity, Hypot... ORPHA:444077
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased respons... OMIM:214800
Carpenter Syndrome 1
Short stature, External genital hypoplasia, Precocious puberty, Cryptorchidism, Obesity OMIM:201000
Fanconi Anemia, Complementation Group W
Growth delay, Intrauterine growth retardation, Decreased response to growth hormone stimulation test OMIM:617784
Cystic Echinococcosis
Ovarian cyst, Abnormality of the testis size, Weight loss ORPHA:400
Snakebite Envenomation
Hypopituitarism ORPHA:449285
Huntington Disease-Like 2
Weight loss ORPHA:98934
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97280
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Hypothyroidism, Thyroiditis, Aplasia of the thymus ORPHA:83471
Immunodeficiency 31C
Diabetes mellitus, Short stature, Weight loss, Growth delay, Delayed puberty, Hypothyroidism OMIM:614162
Ring Chromosome 13 Syndrome
Bifid scrotum, Hypoplasia of the gallbladder, Hypospadias, Growth delay, Primary hypothyroidism, ... ORPHA:96176
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty, Failure to thrive, Short stature, Large for gestational age ORPHA:261652
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Short stature, Postnat... OMIM:206900
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Supernumerary nipple, Cryptorchidism, Hyperhidrosis, Growth delay, Hypothyroidism ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Supernumerary nipple, Cryptorchidism, Hyperhidrosis, Growth delay, Hypothyroidism ORPHA:352665
Thymoma
Neoplasm of the thyroid gland, Prostate neoplasm, Weight loss ORPHA:99867
Igg4-Related Retroperitoneal Fibrosis
Hashimoto thyroiditis, Weight loss, Hydrocele testis, Retrograde ejaculation, Impotence, Varicocele ORPHA:49041
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Myhre Syndrome
Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Precoc... ORPHA:2588
Phakomatosis Pigmentokeratotica
Precocious puberty, Cryptorchidism, Pheochromocytoma, Hyperhidrosis ORPHA:2874
Fragile X-Associated Tremor/Ataxia Syndrome
Impotence, Hypothyroidism ORPHA:93256
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ... OMIM:615577
Charge Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Short stature, Postnatal growth retardation, Crypto... ORPHA:138
Paternal Uniparental Disomy Of Chromosome 6
Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, Labial hypertro... ORPHA:96191
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Hyperhidrosis ORPHA:86893
Trichohepatoneurodevelopmental Syndrome
Recurrent pancreatitis, Hypoplastic nipples, Decreased body weight, Cholelithiasis, Hypothyroidis... OMIM:618268
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hypothyroidism OMIM:251900
Bainbridge-Ropers Syndrome
Death in infancy, Supernumerary nipple, Precocious puberty, Cryptorchidism, Growth delay, Intraut... OMIM:615485
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, External genital hypoplasia, Decrea... ORPHA:177907
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Fanconi Anemia
Hypospadias, Short stature, Abnormal preputium morphology, Cryptorchidism, Weight loss, Growth de... ORPHA:84
Acrootoocular Syndrome
Failure to thrive, Small for gestational age, Decreased response to growth hormone stimulation te... ORPHA:2980
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Rhizomelia, Postnatal growth retarda... OMIM:261540
Pycnodysostosis
Decreased serum insulin-like growth factor 1, Rhizomelia, Decreased response to growth hormone st... ORPHA:763
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Small for gestational age, Bifid uterus, Crypt... OMIM:107480
Galactose Epimerase Deficiency
Growth delay, Weight loss ORPHA:79238
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Dysbetalipoproteinemia
Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Obesity ORPHA:412
Holoprosencephaly
Hypoplasia of penis, Diabetes mellitus, Failure to thrive in infancy, Cryptorchidism, Panhypopitu... ORPHA:2162
Phocomelia, Schinzel Type
Hypoplasia of penis, Cryptorchidism, Disproportionate short stature, Aplasia of the uterus, Intra... ORPHA:2879
9P13 Microdeletion Syndrome
Precocious puberty, Short stature, External genital hypoplasia ORPHA:324313
Neuroendocrine Tumor Of The Colon
Atypical pulmonary carcinoid tumor, Carcinoid tumor, Increased serum serotonin, Weight loss ORPHA:100080
Igg4-Related Ophthalmic Disease
Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroiditis, Sialadeni... ORPHA:449563
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Episodic hyperhidrosis, Paraganglioma, Weight loss ORPHA:94080
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Abnormality of thyroid physiology, Short stature, Disproportionate sho... ORPHA:1830
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis... OMIM:269200
Limb-Mammary Syndrome
Absent nipple, Primary amenorrhea, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasia, Hyp... ORPHA:69085
Autosomal Dominant Dopa-Responsive Dystonia
Hypothyroidism ORPHA:98808
Neuhauser Syndrome
Short stature, Primary hypothyroidism OMIM:249310
Beckwith-Wiedemann Syndrome
Adrenocortical cytomegaly, Large for gestational age, Cryptorchidism, Adrenocortical carcinoma, A... ORPHA:116
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypospadias, Precocious puberty, Postnatal growth retardation, Disproportionate short stature, Tr... OMIM:210720
Lesch-Nyhan Syndrome
Testicular atrophy, Short stature OMIM:300322
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Disproportionate short stature, Truncal obesity, Abnormality of female extern... ORPHA:2637
Renal Nutcracker Syndrome
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Weight loss, Infertility, Varicocele ORPHA:71273
Huntington Disease
Weight loss, Decreased body mass index, Abnormal libido ORPHA:399
Cowden Syndrome 7
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter OMIM:616858
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism OMIM:603671
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Small for gestational age, Cryptorchidism, Birth length less than 3rd percentile, Po... ORPHA:464311
Intellectual Developmental Disorder, X-Linked 98
Postnatal growth retardation, Failure to thrive, Central hypothyroidism OMIM:300912
Aicardi-Goutières Syndrome
Micropenis, Diabetes mellitus, Hypothyroidism, Short stature ORPHA:51
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Short stature, Decreased response to growth hormone stimulation test, Central diabetes insipidus,... ORPHA:293987
Radio-Tartaglia Syndrome
Precocious puberty, Obesity OMIM:619312
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Genitopatellar Syndrome
Small scrotum, Enlarged labia minora, Cryptorchidism, Labial hypoplasia, Micropenis, Hypothyroidi... OMIM:606170
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Weight loss, Ovarian carcinoma, Exocrine pancreatic... ORPHA:1333
Eec Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Short stature, Xerostomia, Hy... ORPHA:1896
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Cryptorchidism, Micropenis, Aplasia/Hypoplasia of the gallbladder ORPHA:96092
Ventilator-Induced Diaphragmatic Dysfunction
Hypothyroidism ORPHA:505395
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Disproportionate short-limb short stature, Micropenis, Hypospadias, Small pituitary gland OMIM:619479
Thymic Carcinoma
Neoplasm of the thymus, Weight loss, Hyperhidrosis ORPHA:99868
Coffin-Siris Syndrome 12
Hypospadias, Short stature, Cryptorchidism, Failure to thrive, Hypothyroidism OMIM:619325
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Peritoneal Cystic Mesothelioma
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss ORPHA:168816
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Neuroendocrine Tumor Of The Rectum
Atypical pulmonary carcinoid tumor, Carcinoid tumor, Increased serum serotonin, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Atypical pulmonary carcinoid tumor, Carcinoid tumor, Increased serum serotonin, Weight loss ORPHA:100082
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Growth delay, Short stature OMIM:163200
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Death in early adulthood, Slender build, Cachexia, Weight loss OMIM:603041
Chromosome 17Q12 Deletion Syndrome
Short stature, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicor... OMIM:614527
Branchiootorenal Syndrome 1
Euthyroid goiter OMIM:113650
Spondyloenchondrodysplasia With Immune Dysregulation
Hypothyroidism, Short stature OMIM:607944
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Obesity ORPHA:163681
Syndromic Diarrhea
Small for gestational age, Short stature, Hypoplasia of the thymus, Intrauterine growth retardati... ORPHA:84064
Pseudoxanthoma Elasticum
Hypothyroidism ORPHA:758
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Pancreatitis, Weight loss ORPHA:65682
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism OMIM:618569
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... ORPHA:93924
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... ORPHA:220386
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Stüve-Wiedemann Syndrome
Short stature, Hypohidrosis, Hyperhidrosis, Ectopic thyroid, Intrauterine growth retardation, Hyp... ORPHA:3206
Sponastrime Dysplasia
Rhizomelia, Hypospadias, Small for gestational age, Precocious puberty, Disproportionate short-li... ORPHA:93357
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Adrenal ph... ORPHA:29072
Kabuki Syndrome 1
Short stature, Premature thelarche, Postnatal growth retardation, Cryptorchidism, Congenital hypo... OMIM:147920
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Erdheim-Chester Disease
Weight loss, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyperhidrosis ORPHA:35687
Wolf-Hirschhorn Syndrome
Hypospadias, Small for gestational age, Short stature, Precocious puberty, Cryptorchidism, Growth... OMIM:194190
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma... ORPHA:322
Chronic Hiccup
Weight loss ORPHA:396
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Exocr... ORPHA:2255
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hypogonadotropic hypogonadism, Absence of Stensen duct, Decreased response to growth hormone stim... OMIM:129900
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Hypogonadotropic hypogonadism, Decreased response to growth hormone stim... OMIM:604292
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Palmoplantar hyperhidrosis, Congenital hypothyroidism OMIM:617527
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Short stature, Decreased response to growth hormone stimulation test, Supernumerary nipple, Large... OMIM:213980
Interstitial Lung And Liver Disease
Failure to thrive, Hypothyroidism OMIM:615486
Chromosome 1P36 Deletion Syndrome, Distal
Abnormal external genitalia, Hypospadias, Cryptorchidism, Obesity, Congenital hypothyroidism, Gro... OMIM:607872
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Severe short stature, Elevated circulating luteinizing hor... OMIM:617253
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Precocious puberty, Obesity, Growth delay, Type I diabetes mellitus OMIM:619269
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Short stature, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Stillbirth, Adrenal gland dysgenesis, Intrauterine growth retardation,... OMIM:236680
Neuroendocrine Tumor Of Stomach
Increased circulating ACTH level, Weight loss, Paraganglioma, Atypical pulmonary carcinoid tumor,... ORPHA:100075
Primary Hepatic Neuroendocrine Carcinoma
Weight loss, Carcinoid tumor, Increased serum serotonin, Neuroendocrine neoplasm ORPHA:100085
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Secondary am... ORPHA:529962
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Seckel Syndrome
Intrauterine growth retardation, Short stature, Cachexia ORPHA:808
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Peripartum Cardiomyopathy
Diabetes mellitus, Abnormality of thyroid physiology, Obesity ORPHA:563
Gm1 Gangliosidosis
Failure to thrive, Abnormality of the scrotum, Short stature, Weight loss ORPHA:354
Primrose Syndrome
Diabetes mellitus, Hypergonadotropic hypogonadism, Short stature, Bilateral cryptorchidism, Crypt... OMIM:259050
Williams Syndrome
Death in early adulthood, Hypoplasia of penis, Hypogonadotropic hypogonadism, Failure to thrive i... ORPHA:904
Sarcoidosis
Hyperthyroidism, Diabetes insipidus, Abnormal reproductive system morphology, Enlarged lacrimal g... ORPHA:797
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Cachexia ORPHA:220295
Aicardi-Goutieres Syndrome 7
Intrauterine growth retardation, Hypothyroidism, Weight loss OMIM:615846
Frontorhiny
Hypopituitarism, Diabetes insipidus ORPHA:391474
Huntington Disease-Like 2
Weight loss OMIM:606438
Isolated Succinate-Coq Reductase Deficiency
Intrauterine growth retardation, Severe short stature, Proportionate short stature, Weight loss ORPHA:3208
Abetalipoproteinemia
Failure to thrive, Hypothyroidism ORPHA:14
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Short stature, Precocious puberty, Cryptorchidism, Obesity, Fai... ORPHA:2322
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Compensated hypothyroidism ORPHA:247691
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Growth delay, Short stature, Decreased response to growth hormone ... OMIM:616007
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Thyroiditis, Weight loss, Sialadenitis, Prostatitis, Pancr... ORPHA:449395
Wilson Disease
Weight loss, Failure to thrive, Increased body weight, Abnormality of the menstrual cycle ORPHA:905
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Unilateral breast hypoplasia, Abnormality of thyroid physiology, Short stature OMIM:300968
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Thyroiditis, Xerostomia, Weight loss, Enlargement of parotid gland, Nod... ORPHA:79078
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Failure to thrive in infancy, Annular pancreas, Central hypothyroidism... ORPHA:798
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Thyroid C cell hyperplasia OMIM:300952
Juvenile Huntington Disease
Weight loss ORPHA:248111
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Compensated hypothyroidism ORPHA:480864
Juvenile Nephropathic Cystinosis
Growth delay, Failure to thrive, Hypothyroidism ORPHA:411634
Tay-Sachs Disease
Precocious puberty, Abnormal thalamic MRI signal intensity ORPHA:845
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Adrenal ph... ORPHA:276621
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Wiedemann-Steiner Syndrome
Rhizomelia, Short stature, Decreased response to growth hormone stimulation test, Postnatal growt... ORPHA:319182
Short Syndrome
Severe short stature, Diabetes mellitus, Weight loss ORPHA:3163
Bone Dysplasia, Lethal Holmgren Type
Severe short-limb dwarfism, Failure to thrive, Rhizomelia, Weight loss ORPHA:1842
Tetraamelia Syndrome 1
Adrenal gland agenesis OMIM:273395
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Rectovaginal fistula OMIM:608980
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Short stature, Adrenal hypoplasia, Mild intrauterine growth retardation, Stillbirth, Thyroid hypo... OMIM:308050
Scleromyxedema
Abnormality of thyroid physiology ORPHA:167635
Takayasu Arteritis
Weight loss, Hyperhidrosis ORPHA:3287
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Short stature, Aplasia of the thymus, Decreased response to growth hormone st... OMIM:618223
Helsmoortel-Van Der Aa Syndrome
Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Obesity, Pi... OMIM:615873
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Vaginal neoplasm, Abnormality of the female genitalia, Weight loss, Failure to thrive, Uterine ne... ORPHA:1018
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Death in infancy, Small scrotum, Hypospadias, Short stature, Septate vagina, Preco... OMIM:270400
Granulomatosis With Polyangiitis
Diabetes insipidus, Weight loss, Abnormality of the hypothalamus-pituitary axis, Prostatitis, Pan... ORPHA:900
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Weight loss ORPHA:90003
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Hypoparathyroidism, Obesity ORPHA:369837
Wiedemann-Rautenstrauch Syndrome
Hyperthyroidism, Hypogonadotropic hypogonadism, Hypospadias, Decreased response to growth hormone... ORPHA:3455
Pulmonary Alveolar Microlithiasis
Gonadal calcification, Testicular microlithiasis, Decreased fertility, Weight loss ORPHA:60025
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... OMIM:618280
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Shwachman-Diamond Syndrome
Failure to thrive, Diabetes mellitus, Short stature, Decreased response to growth hormone stimula... ORPHA:811
Bilateral Polymicrogyria
Central hypothyroidism ORPHA:268940
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Rhizomelia, Hypospadias OMIM:615877
Fanconi Anemia, Complementation Group L
Growth delay, Intrauterine growth retardation, Micropenis, Aplasia of the uterus OMIM:614083
Nijmegen Breakage Syndrome
Short stature, Cachexia ORPHA:647
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism, Stillbirth, Neonatal death, Intrauterine growth retardation OMIM:256520
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Cerebrotendinous Xanthomatosis
Cholelithiasis, Hypothyroidism ORPHA:909
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Short stature, Abnormality of the endocrine system, Thyroiditis, Growth delay, Primary hypothyroi... ORPHA:391487
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Intellectual Developmental Disorder, Autosomal Dominant 42
Growth delay, Failure to thrive, Congenital hypothyroidism OMIM:616973
Al Amyloidosis
Abnormal salivary gland morphology, Xerostomia, Autonomic erectile dysfunction, Weight loss ORPHA:85443
Classic Hodgkin Lymphoma
Weight loss, Hyperhidrosis ORPHA:391
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Short stature, Decreased response to growth hormone stimulation test OMIM:617260
Williams-Beuren Syndrome
Diabetes mellitus, Failure to thrive in infancy, Short stature, Obesity, Early onset of sexual ma... OMIM:194050
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Cryptorchidism, Small pituitary gland, Uni... OMIM:619503
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, W... ORPHA:103918
Thrombocytopenia-Absent Radius Syndrome
Pancreatic cysts, Death in infancy, Short stature, Aplasia of the uterus OMIM:274000
Toxic Epidermal Necrolysis
Abnormal vagina morphology, Pancreatitis, Weight loss ORPHA:537
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Rhizomelia, Disproportionate short-limb short stature, Congenital hypothyroidism OMIM:271510
Drug Reaction With Eosinophilia And Systemic Symptoms
Thyroiditis, Weight loss ORPHA:139402
Huntington Disease-Like 1
Weight loss ORPHA:157941
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Pleural Mesothelioma
Weight loss ORPHA:50251
Sotos Syndrome
Hypospadias, Phimosis, Cryptorchidism, Decreased fertility, Hydrocele testis, Hypothyroidism ORPHA:821
Hydranencephaly
Postnatal growth retardation, Thalamic edema, Intrauterine growth retardation, Dysgenesis of the ... ORPHA:2177
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Follicular Lymphoma
Weight loss ORPHA:545
Aicardi Syndrome
Precocious puberty, Postnatal growth retardation, Dilated third ventricle OMIM:304050
Myasthenia Gravis
Hyperthyroidism, Abnormal thymus morphology, Primary adrenal insufficiency, Hashimoto thyroiditis ORPHA:589
Brucellosis
Small for gestational age, Miscarriage, Orchitis, Epididymitis, Hyperhidrosis, Weight loss, Failu... ORPHA:1304
Pyomyositis
Weight loss, Testicular teratoma ORPHA:764
Down Syndrome
Hypothyroidism, Short stature OMIM:190685
Giant Cell Arteritis
Weight loss, Diabetes insipidus, Hyperhidrosis ORPHA:397
Acquired Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:95626
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Disproportionate short stature, Anteriorly displaced ... OMIM:276820
Inflammatory Bowel Disease (Crohn Disease) 1
Growth delay, Weight loss OMIM:266600
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Weight loss, Hypoplastic male external genitalia, Se... ORPHA:740
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Weight loss, Pancreatic hypoplasia, Intrauterine gr... ORPHA:99885
X-Linked Agammaglobulinemia
Failure to thrive, Short stature, Weight loss ORPHA:47
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Neurofibromatosis Type 1
Short stature, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Pheochrom... ORPHA:636
Coffin-Siris Syndrome 1
Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Aplasia of the uterus, ... OMIM:135900
Ehlers-Danlos Syndrome, Vascular Type
Short stature, Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse OMIM:130050
Witteveen-Kolk Syndrome
Unilateral cryptorchidism, Hypospadias, Decreased response to growth hormone stimulation test, Ph... OMIM:613406
Acute Promyelocytic Leukemia
Metrorrhagia, Weight loss ORPHA:520
Ileal Neuroendocrine Tumor
Small intestine carcinoid, Increased serum serotonin, Weight loss ORPHA:100078
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis, Obesity OMIM:301066
Stickler Syndrome
Short stature, Slender build, Cachexia ORPHA:828
Doors Syndrome
Ambiguous genitalia, Adrenal hyperplasia, Congenital hypothyroidism ORPHA:79500
Rhabdoid Tumor
Weight loss ORPHA:69077
Infantile Nephropathic Cystinosis
Growth delay, Failure to thrive, Abnormality of thyroid physiology ORPHA:411629
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Short stature, Precocious puberty, Growth delay, Macroorchidism, Failure to thrive OMIM:619950
Pfapa Syndrome
Weight loss ORPHA:42642
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Cryptorchidism OMIM:616682
Immunodeficiency 27A
Weight loss OMIM:209950
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Mast Cell Sarcoma
Weight loss ORPHA:66661
Floating-Harbor Syndrome
Hypospadias, Small for gestational age, Short stature, Precocious puberty, Cryptorchidism, Growth... ORPHA:2044
Early Infantile Epileptic Encephalopathy
Precocious puberty, Micropenis, Failure to thrive ORPHA:1934
Axenfeld-Rieger Syndrome, Type 1
Hypospadias, Decreased response to growth hormone stimulation test OMIM:180500
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Yao Syndrome
Xerostomia, Weight loss OMIM:617321
Perry Syndrome
Weight loss ORPHA:178509
Aicardi Syndrome
Precocious puberty, Delayed puberty ORPHA:50
Leishmaniasis
Weight loss ORPHA:507
Kaposi Sarcoma
Weight loss ORPHA:33276
Holocarboxylase Synthetase Deficiency
Growth delay, Weight loss ORPHA:79242
Postinfectious Vasculitis
Orchitis, Weight loss ORPHA:48435
Behçet Disease
Orchitis, Pancreatitis, Weight loss ORPHA:117
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Malt Lymphoma
Abnormality of the thyroid gland, Weight loss, Hyperhidrosis ORPHA:52417
Focal Myositis
Weight loss ORPHA:48918
Fatal Familial Insomnia
Weight loss, Hyperhidrosis OMIM:600072
Stevens-Johnson Syndrome
Dyspareunia, Pancreatitis, Weight loss ORPHA:36426
Primary Sclerosing Cholangitis
Thyroiditis, Weight loss, Neoplasm of the gallbladder, Type I diabetes mellitus, Cholelithiasis, ... ORPHA:171
Tolchin-Le Caignec Syndrome
Precocious puberty OMIM:618971
Chronic Beryllium Disease
Weight loss ORPHA:133
Carney-Stratakis Syndrome
Paraganglioma, Weight loss ORPHA:97286
Systemic Capillary Leak Syndrome
Pancreatitis, Weight loss ORPHA:188
Alveolar Echinococcosis
Pancreatic cysts, Abnormal adrenal morphology, Weight loss ORPHA:284
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Holoprosencephaly 7
Fusion of the left and right thalami, Panhypopituitarism OMIM:610828
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Eosinophilic Fasciitis
Weight loss ORPHA:3165
17Q11 Microdeletion Syndrome
Short stature, Precocious puberty, Glomus jugular tumor, Elevated circulating parathyroid hormone... ORPHA:97685
Osteosarcoma
Weight loss ORPHA:668
Polyarteritis Nodosa
Weight loss ORPHA:767
Pallister-Killian Syndrome
Anhidrosis, Small scrotum, Hypospadias, Rhizomelia, Supernumerary nipple, Mesomelic/rhizomelic li... OMIM:601803
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Okamoto Syndrome
Severe postnatal growth retardation, Bifid uterus ORPHA:2729
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Weight loss ORPHA:100086
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Loeffler Endocarditis
Weight loss ORPHA:75566
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Cap Polyposis
Weight loss ORPHA:160148
Viss Syndrome
Failure to thrive, Hypothyroidism, Short stature OMIM:619472
Felty Syndrome
Weight loss ORPHA:47612
Polymyositis
Weight loss ORPHA:732
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Hermansky-Pudlak Syndrome
Menometrorrhagia, Weight loss ORPHA:79430
Perry Syndrome
Weight loss OMIM:168605
Igg4-Related Aortitis
Weight loss ORPHA:449400
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Weight loss ORPHA:20
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Lysinuric Protein Intolerance
Pancreatitis, Failure to thrive, Decreased response to growth hormone stimulation test ORPHA:470
Primary Intestinal Lymphangiectasia
Growth delay, Weight loss ORPHA:90362
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Chronic Graft Versus Host Disease
Weight loss, Abnormal vagina morphology, Xerostomia, Phimosis ORPHA:99921
Familial Thrombocytosis
Weight loss, Miscarriage, Hyperhidrosis ORPHA:71493
Liposarcoma
Weight loss ORPHA:69078
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Vascular Ehlers-Danlos Syndrome
Hypospadias, Short stature, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse ORPHA:286
Refractory Celiac Disease
Weight loss ORPHA:398063
Eosinophilic Granulomatosis With Polyangiitis
Weight loss ORPHA:183
Caroli Disease
Cholelithiasis, Weight loss ORPHA:53035
Ménétrier Disease
Weight loss ORPHA:2494
Rat-Bite Fever
Pancreatitis, Parotitis, Weight loss ORPHA:31205
Acrodermatitis Enteropathica
Failure to thrive, Short stature, Weight loss ORPHA:37
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Oromandibular Dystonia
Weight loss ORPHA:93958
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565
Nocardiosis
Abnormality of the adrenal glands, Thyroiditis, Weight loss ORPHA:31204
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Rheumatoid Arthritis
Weight loss OMIM:180300
Nephroblastoma
Weight loss ORPHA:654
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Pneumocystosis
Weight loss ORPHA:723
Beta-Ketothiolase Deficiency
Weight loss ORPHA:134
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Mucolipidosis Type Ii
Postnatal growth retardation, Short stature, Weight loss ORPHA:576
Pemphigus Vulgaris
Weight loss ORPHA:704
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Anoperineal fistula, Weight loss OMIM:301074
Pancreatoblastoma
Pancreatic calcification, Weight loss ORPHA:677
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss OMIM:607459
Simple Cryoglobulinemia
Weight loss ORPHA:91139
Pancreatic Triacylglycerol Lipase Deficiency
Growth delay, Weight loss, Exocrine pancreatic insufficiency ORPHA:309031
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss ORPHA:98849
Budd-Chiari Syndrome
Weight loss ORPHA:131
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Riddle Syndrome
Short stature, Weight loss ORPHA:420741
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Polycythemia Vera
Weight loss ORPHA:729
Q Fever
Weight loss ORPHA:781
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Enlarged lacrimal glands, Weight loss OMIM:181000
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Weight loss ORPHA:85408
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Kikuchi-Fujimoto Disease
Enlargement of parotid gland, Weight loss ORPHA:50918
Immunodeficiency 82 With Systemic Inflammation
Anoperineal fistula, Weight loss OMIM:619381
Castleman Disease
Weight loss ORPHA:160
Klatskin Tumor
Weight loss ORPHA:99978
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Multiple Myeloma
Weight loss ORPHA:29073
Reactive Arthritis
Weight loss ORPHA:29207
Dermatomyositis
Weight loss ORPHA:221
Primary Fanconi Renotubular Syndrome
Growth delay, Weight loss ORPHA:3337
Choreoacanthocytosis
Weight loss ORPHA:2388
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss ORPHA:91500
Goodpasture Syndrome
Weight loss OMIM:233450

Histopathology

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

There is no histopathology data for Lhx3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lhx3.

No publications found that use IMPC mice or data for Lhx3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Lhx3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Lhx3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lhx3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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